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- AG Funktionelle Genetik der Neurodegeneration und neurologische Erkrankungen
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Publikationsliste
Abiusi E, Costa-Roger M, Bertini ES, Tiziano FD, Tizzano EF; SMN2 Study group; Abiusi E, Baranello G, Bertini E, Boemer F, Burghes A, Codina-Solà M, Costa-Roger M, Dangouloff T, Groen E, Gos M, Jędrzejowska M, Kirschner J, Lemmink HH, Müller-Felber W, Ouillade MC, Quijano-Roy S, Rucinski K, Saugier-Veber P, Tiziano FD, Tizzano EF, Wirth B.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Neuromuscul Disord. 2024 Jan;34:114-122. doi: 10.1016/j.nmd.2023.12.008. Epub 2023 Dec 14.
PubMed PMID: 38183850
Adam D, Langerscheidt F, Zempel H
Amyloid-β-induced disruption of axon-initial-segment mitochondria localization: consequences for TAU missorting in Alzheimer's disease pathology.
Neural Regen Res. 2025 May 1;20(5):1407-1408. doi: 10.4103/NRR.NRR-D-24-00253. Epub 2024 Jun 3.
PubMed PMID: 39075906
Al Kabbani MA, Köhler C, Zempel H.
Effects of P301L-TAU on post-translational modifications of microtubules in human iPSC-derived cortical neurons and TAU transgenic mice.
Neural Regen Res. 2024 Jun 26. doi: 10.4103/NRR.NRR-D-23-01742. Epub ahead of print.
PubMed PMID: 38934386
Allroggen N, Breuer H, Bachmann S, Bell M, Zempel H.
Studying Microtubule Dynamics in Human Neurons: Two-Dimensional Microtubule Tracing and Kymographs in iPSC- and SH-SY5Y-Derived Neurons for Tau
Research. Methods Mol Biol. 2024;2754:561-580. doi: 10.1007/978-1-0716-3629-9_33.
PubMed PMID: 38512690.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yis U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genet Med. 2024 Mar 5:101117. doi: 10.1016/j.gim.2024.101117. Epub ahead of print.
PubMed PMID: 38459834
Buchholz S, Bell-Simons M, Cakmak C, Klimek J, Gan L, Zempel H.
Cultivation, Differentiation, and Lentiviral Transduction of Human-Induced Pluripotent Stem Cell (hiPSC)-Derived Glutamatergic Neurons for Studying Human Tau.
Methods Mol Biol. 2024;2754:533-549. doi: 10.1007/978-1-0716-3629-9_31.
PubMed PMID: 38512688
Buchholz S, Bell-Simons M, Haag N, Zempel H.
Tracking Tau in Neurons: How to Grow, Fix, and Stain Primary Neurons for the Investigation of Tau in All Developmental Stages.
Methods Mol Biol. 2024;2754:507-519. doi: 10.1007/978-1-0716-3629-9_29.
PubMed PMID: 38512686
Buchholz S, Bell-Simons M, Zempel H.
Tracking Tau in Neurons: How to Transfect and Track Exogenous Tau in Primary Neurons.
Methods Mol Biol. 2024;2754:499-506. doi: 10.1007/978-1-0716-3629-9_28.
PubMed PMID: 38512685
Buchholz S, Zempel H
Suppression of mature TAU isoforms prevents Alzheimer's disease-like amyloid-beta oligomer-induced spine loss in rodent neurons.
Neural Regen Res. 2024 Aug 1;19(8):1655-1657. doi: 10.4103/1673-5374.389644. Epub 2023 Dec 11.
PubMed PMID: 38103227
Buchholz S, Zempel H.
The six brain-specific TAU isoforms and their role in Alzheimer's disease and related neurodegenerative dementia syndromes.
Alzheimers Dement. 2024 May;20(5):3606-3628. doi: 10.1002/alz.13784. Epub 2024 Mar 31.
PubMed PMID: 38556838
Fages V, Bourre F, Larrue R, Wenzel A, Gibier JB, Bonte F, Dhaenens CM, Kidd K, Kmoch S, Bleyer A, Glowacki F, Grunewald O.
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection.
Kidney Int Rep. 2024 Feb 3;9(5):1451-1457. doi: 10.1016/j.ekir.2024.01.058.
PubMed PMID: 38707821
Grass T, Dokuzluoglu Z, Buchner F, Rosignol I, Thomas J, Caldarelli A, Dalinskaya A, Becker J, Rost F, Marass M, , Beyer M, Bonaguro L, Rodriguez-Muela N.
Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.
Cell Rep Med. 2024 Aug 20;5(8):101659. doi: 10.1016/j.xcrm.2024.101659. Epub 2024 Jul 26.
PubMed PMID: 39067446
James R, Faller KME, Groen EJN, Wirth B, Gillingwater TH.
Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy.
Commun Med (Lond). 2024 May 15;4(1):86. doi: 10.1038/s43856-024-00515-w.
PubMed PMID: 38750213
Martin-Higueras C, Borghese L, Torres A, Fraga-Bilbao F, Santana-Estupiñán R, Stefanidis CJ, Tory K, Walli A, Gondra L, Kempf C, Gessner M, Habbig S, Eifler L, Schmitt CP, Rüdel B, Bartram MP, Beck BB, Hoppe B.
Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Kidney Int Rep. 2023 Oct 6;9(1):114-133. doi: 10.1016/j.ekir.2023.10.004.
PubMed PMID: 38312792
Kömhoff M, Gracchi V, Dijkman H, Beck BB, Monnens L.
Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
Pediatr Nephrol. 2024 Jan;39(1):125-129. doi: 10.1007/s00467-023-06079-6. Epub 2023 Jul 14.
PubMed PMID: 37450011
Kołbuc M, Kołek MF, Motyka R, Bieniaś B, Habbig S, Burgmaier K, Prikhodina L, Papizh S, Tasic V, Okorn C, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Tkaczyk M, Pańczyk-Tomaszewska M, Miklaszewska M, Pawlaczyk K, Bukowska-Olech E, Jamsheer A, Jankauskiene A, König J, Cheong HI, Ahn YH, Kaspar S, Sikora P, Beck BB, Zaniew M.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol. 2024 Jan 10. doi: 10.1007/s00467-023-06262-9. Epub ahead of print.
PubMed PMID: 38196016
Langerscheidt F, Bell-Simons M, Zempel H.
Differentiating SH-SY5Y Cells into Polarized Human Neurons for Studying Endogenous and Exogenous Tau Trafficking: Four Protocols to Obtain Neurons with Noradrenergic, Dopaminergic, and Cholinergic Properties.
Methods Mol Biol. 2024;2754:521-532. doi: 10.1007/978-1-0716-3629-9_30.
PubMed PMID: 38512687
Langerscheidt F, Wied T, Al Kabbani MA, van Eimeren T, Wunderlich G, Zempel H.
Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies.
J Neurol. 2024 Jun;271(6):2992-3018. doi: 10.1007/s00415-024-12314-3. Epub 2024 Mar 30.
PubMed PMID: 38554150
Lilis P, Al Kabbani MA, Zempel H.
Optimized Calcium-Phosphate-Based Co-transfection of Tau and tdTomato into Human iPSC-Derived Neurons for the Study of Intracellular Distribution of Wild-type and Mutant Human Tau.
Methods Mol Biol. 2024;2754:551-560. doi: 10.1007/978-1-0716-3629-9_32.
PubMed PMID: 38512689
Maus I, Dreiner M, Zetzsche S, Metzen F, Ross BC, Mählich D, Koch M, Niehoff A, Wirth B.
Osteoclast-specific Plastin 3 knockout in mice fail to develop osteoporosis despite dramatic increased osteoclast resorption activity.
JBMR Plus. 2024 Jan 4;8(1):ziad009. doi: 10.1093/jbmrpl/ziad009.
PMID: 38549711
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20.
PubMed PMID: 38117302
Zempel H.
Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies.
Cytoskeleton (Hoboken). 2024 Jan;81(1):66-70. doi: 10.1002/cm.21793. Epub 2023 Oct 5.
PubMed PMID: 37795931
Zaninello M, Schlegel T, Nolte H, Pirzada M, Savino E, Barth E, Klein I, Wüstenberg H, Uddin T, Wolff L, Wirth B, Lehmann HC, Cioni JM, Langer T, Rugarli EI.
CLUH maintains functional mitochondria and translation in motoneuronal axons and prevents peripheral neuropathy.
Sci Adv. 2024 May 31;10(22):eadn2050. doi: 10.1126/sciadv.adn2050. Epub 2024 May 29.
Pubmed PMID: 38809982
Abdel-Salam GMH, Afifi HH, Abdel-Hamid MS, Ahmed NEB, Taher MB, El-Kamah G, Thiele H, Nürnberg PN, Bolz HJ.
Expanding the phenotypic spectrum and clinical severity associated with WLS gene. J Hum Genet. 2023 Apr 28. doi: 10.1038/s10038-023-01152-2. Epub 2023 Apr 28.
PubMed PMID: 37106064
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079.
PubMed PMID: 37796616
Arjune S, Oehm S, Todorova P, Gansevoort RT, Bakker SJL, Erger F, Benzing T, Burst V, Grundmann F, Antczak P, Müller RU.
Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study.
Clin Kidney J. 2023 May 25;16(11):2194-2204. doi: 10.1093/ckj/sfad118.
PubMed PMID: 37915893
Bell-Simons M, Buchholz S, Klimek J, Zempel H.
Laser-Induced Axotomy of Human iPSC-Derived and Murine Primary Neurons Decreases Somatic Tau and AT8 Tau Phosphorylation: A Single-Cell Approach to Study Effects of Acute Axonal Damage.
Cell Mol Neurobiol. 2023 Oct;43(7):3497-3510. doi: 10.1007/s10571-023-01359-z. Epub 2023 May 12.
PubMed PMID: 37171549
Birtel J, Diederen RM, Herrmann P, Kaspar S, Beck BB, Garrelfs SF, Hoppe B, Charbel Issa P.
The retinal phenotype in primary hyperoxaluria type 2 and 3.
Pediatr Nephrol. 2023 May;38(5):1485-1490. doi: 10.1007/s00467-022-05765-1. Epub 2022 Oct 19.
PubMed PMID: 36260161
Bolz HJ, Kochs CL, Holz FG, Bucher F, Herrmann P.
Erbliche Netzhautdystrophien in Deutschland – Versorgungsstrukturelle und diagnostische Herausforderungen [Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics].
Ophthalmologie. 2023 Dec;120(12):1251-1257. German. doi: 10.1007/s00347-023-01903-8. Epub 2023 Aug 22.
PubMed PMID: 37606831
Cengiz Winter N, Karakaya M, Mosen P, Brusius I, Anlar B, Haliloglu G, Winter D, Wirth B.
Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.
J Proteome Res. 2023 Sep 1;22(9):3081-3095. doi: 10.1021/acs.jproteome.3c00402. Epub 2023 Aug 16.
PubMed PMID: 37585105
Chen C, Piano V, Alex A, Han SJY, Huis In 't Veld PJ, Roy B, Fergle D, Musacchio A, Joglekar AP.
The structural flexibility of MAD1 facilitates the assembly of the Mitotic Checkpoint Complex.
Nat Commun. 2023 Mar 18;14(1):1529. doi: 10.1038/s41467-023-37235-z.
PubMed PMID: 36934097
Chudobová J, Zempel H.
Microtubule affinity regulating kinase (MARK/Par1) isoforms differentially regulate Alzheimer-like TAU missorting and Aβ-mediated synapse pathology.
Neural Regen Res. 2023 Feb;18(2):335-336. doi: 10.4103/1673-5374.346477.
PubMed PMID: 35900423
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22.
PubMed PMID: 37216524
Ermanoska B, Asselbergh B, Morant L, Petrovic-Erfurth ML, Hosseinibarkooie S, Leitão-Gonçalves R, Almeida-Souza L, Bervoets S, Sun L, Lee L, Atkinson D, Khanghahi A, Tournev I, Callaerts P, Verstreken P, Yang XL, Wirth B, Rodal AA, Timmerman V, Goode BL, Godenschwege TA, Jordanova A.
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Nat Commun. 2023 Mar 8;14(1):999. doi: 10.1038/s41467-023-35908-3.
PubMed PMID: 36890170
Etich J, Semler O, Stevenson NL, Stephan A, Besio R, Garibaldi N, Reintjes N, Dafinger C, Liebau MC, Baumann U, Mörgelin M, Forlino A, Stephens DJ, Netzer C, Zaucke F, Rehberg M.
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
EMBO Mol Med. 2023 Jul 10;15(7):e17528. doi: 10.15252/emmm.202317528. Epub 2023 Jun 9.
PubMed PMID: 37292039
Fistrek Prlic M, Huljev Frkovic S, Beck B, Tonkovic Durisevic I, Bulimbasic S, Coric M, Lamot L, Ivandic E, Vukovic Brinar I.
Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.
Front Pediatr. 2023 Nov 10;11:1283325. doi: 10.3389/fped.2023.1283325.
PubMed PMID: 38027261
Fortuna TR, Kour S, Chimata AV, Muiños-Bühl A, Anderson EN, Nelson Iv CH, Ward C, Chauhan O, O'Brien C, Rajasundaram D, Rajan DS, Wirth B, Singh A, Pandey UB.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Acta Neuropathol. 2023 Sep;146(3):477-498. doi: 10.1007/s00401-023-02607-8. Epub 2023 Jun 27.
PubMed PMID: 37369805
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J.
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5.
PubMed PMID: 36604599
Hardt R, Dehghani A, Schoor C, Gödderz M, Cengiz Winter N, Ahmadi S, Sharma R, Schork K, Eisenacher M, Gieselmann V, Winter D.
Proteomic investigation of neural stem cell to oligodendrocyte precursor cell differentiation reveals phosphorylation-dependent Dclk1 processing.
Cell Mol Life Sci. 2023 Aug 18;80(9):260. doi: 10.1007/s00018-023-04892-8.
PubMed PubPMID: 37594553
Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, Gökce I, Mekahli D, Mir S, Obrycki L, Shroff R, Stabouli S, Szczepanska M, Teixeira A, Weber LT, Wenzel A, Wühl E, Zachwieja K, Dötsch J, Schaefer F, Liebau MC.
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Kidney Int Rep. 2023 Apr 13;8(7):1449-1454. doi: 10.1016/j.ekir.2023.04.006.
PubMed PMID: 37441483
Heusser K, Erger F, Ebner U, Namer B, Eisenhofer G, Haensch CA, Weis H, Schmidt M, Drzezga A, Tank J, Netzer C, Jordan J.
Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency.
Hypertension. 2023 Aug;80(8):e137-e139. doi: 10.1161/HYPERTENSIONAHA.123.21172. Epub 2023 May 10.
PubMed PMID: 37161764
Kruse T, Shamai S, Leflerovà D, Wirth B, Heller R, Schloss N, Lehmann HC, Brakemeier S, Hagenacker T, Braumann B, Wunderlich G.
Objective measurement of oral function in adults with spinal muscular atrophy. Orphanet J Rare Dis. 2023 May 3;18(1):103. doi: 10.1186/s13023-023-02688-4.
PubMed PMID: 37138365
Kurz B, Koschitzki KT, Hehr U, Germer U, Schreml J, Langhammer F, Schreml S.
Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10.
JAAD Case Rep. 2023 Mar 18;35:74-76. doi: 10.1016/j.jdcr.2023.02.028.
PubMed PMID: 37101807
Lindemann CH, Wenzel A, Erger F, Middelmann L, Borde J, Hahnen E, Krauß D, Oehm S, Arjune S, Todorova P, Burgmaier K, Liebau MC, Grundmann F, Beck BB, Müller RU.
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Kidney Int Rep. 2022 Dec 28;8(3):455-466. doi: 10.1016/j.ekir.2022.12.025.
PubMed PMID: 36938073
Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria.
Genetic assessment in primary hyperoxaluria: why it matters.
Pediatr Nephrol. 2023 Mar;38(3):625-634. doi: 10.1007/s00467-022-05613-2. Epub 2022 Jun 13.
PubMed PMID: 35695965
Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K.
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
J Neuromuscul Dis. 2023;10(1):55-65. doi: 10.3233/JND-221577.
PubMed PMID: 36463459
Muiños-Bühl A, Rombo R, Ling KK, Zilio E, Rigo F, Bennett CF, Wirth B.
Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.
Int J Mol Sci. 2023 Feb 20;24(4):4198. doi: 10.3390/ijms24044198.
PubMed PMID: 36835624
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156.
PubMed PMID: 36862503
Odenthal J, Dittrich S, Ludwig V, Merz T, Reitmeier K, Reusch B, Höhne M, Cosgun ZC, Hohenadel M, Putnik J, Göbel H, Rinschen MM, Altmüller J, Koehler S, Schermer B, Benzing T, Beck BB, Brinkkötter PT, Habbig S, Bartram MP.
Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes.
Kidney Int Rep. 2022 Oct 31;8(2):317-329. doi: 10.1016/j.ekir.2022.10.024.
PubMed PMID: 36815115
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278.
PubMed PMID: 35979925
Rauterberg J, Schreml J, Tantcheva-Poór I.
Cutaneous Vascular Malformations in a 53-Year-Old Woman With Neurologic Symptoms.
JAMA Dermatol. 2023 Oct 1;159(10):1133-1134. doi: 10.1001/jamadermatol.2023.3216.
PubMed PMID: 37703032
Strathmann EA, Hölker I, Tschernoster N, Hosseinibarkooie S, Come J, Martinat C, Altmüller J, Wirth B.
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Am J Hum Genet. 2023 Mar 2;110(3):442-459. doi: 10.1016/j.ajhg.2023.02.004. Epub 2023 Feb 21.
PubMed PMID: 36812914
Truong HM, Cruz-Colón KO, Martínez-Márquez JY, Willer JR, Travis AM, Biswas SK, Lo WK, Bolz HJ, Pearring JN.
The tectonic complex regulates membrane protein composition in the photoreceptor cilium.
Nat Commun. 2023 Sep 13;14(1):5671. doi: 10.1038/s41467-023-41450-z.
PubMed PMID: 37704658
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1.
PubMed PMID: 37612755
Abdel-Salam GMH, Abdel-Hamid MS, Sayed ISM, Zechner U, Bolz HJ.
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
2022 Jan;67(1):55-64.
PubMed PMID: 34354232
Al Kabbani MA, Wunderlich G, Köhler C, Zempel H
AAV-based gene therapy approaches for genetic forms of tauopathies and related neurogenetic disorders.
Biocell, 46(4), 847-853.
doi:http://dx.doi.org/10.32604/biocell.2022.018144
Bell M, Zempel H
A simple human cell model for TAU trafficking and tauopathy-related TAU pathology. Neural Regen Res. 2022 Apr;17(4):770-772.
PubMed PMID: 34472464
Bell M, Zempel H
SH-SY5Y-derived neurons: a human neuronal model system for investigating TAU sorting and neuronal subtype-specific TAU vulnerability.
Rev Neurosci. 2021 Apr 19;33(1):1-15. doi: 10.1515/revneuro-2020-0152.
PubMed PMID: 33866701
Boeckhaus J, Hoefele J, Riedhammer KM, Nagel M, Beck B, Choi M, Gollasch M, Bergmann C, Sonntag JE, Troesch V, Stock J, Gross O.
Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study.
Nephrol Dial Transplant. 2022 Jan 12:gfac006. doi: 10.1093/ndt/gfac006. Epub ahead of print.
PubMed PMID: 35022790
Brown SJ, Kline RA, Synowsky SA, Shirran SL, Holt I, Sillence KA, Claus P, Wirth B, Wishart TM, Fuller HR.
The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap.
Cells. 2022 Aug 23;11(17):2624. doi: 10.3390/cells11172624.
PubMed PMID: 36078032
Chen L, Roake CM, Maccallini P, Bavasso F, Dehghannasiri R, Santonicola P, Mendoza-Ferreira N, Scatolini L, Rizzuti L, Esposito A, Gallotta I, Francia S, Cacchione S, Galati A, Palumbo V, Kobin MA, Tartaglia GG, Colantoni A, Proietti G, Wu Y, Hammerschmidt M, De Pittà C, Sales G, Salzman J, Pellizzoni L, Wirth B, Di Schiavi E, Gatti M, Artandi SE, Raffa GD.
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Nucleic Acids Res. 2022 Nov 28;50(21):12400-12424. doi: 10.1093/nar/gkac659. Erratum in: Nucleic Acids Res. 2022 Sep 12;:
PubMed PMID: 35947650
Deesker LJ, Garrelfs SF, Mandrile G, Oosterveld MJS, Cochat P, Deschênes G, Harambat J, Hulton SA, Gupta A, Hoppe B, Beck BB, Collard L, Topaloglu R, Prikhodina L, Salido E, Neuhaus T, Groothoff JW, Bacchetta J.
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Kidney Int Rep. 2022 Apr 20;7(7):1608-1618. doi: 10.1016/j.ekir.2022.04.012.
PubMed PMID: 35812297
Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muiños-Bühl A, Storbeck M, Guillén Boixet J, Barresi S, Pizzi S, Hölker I, Körber F, Franzmann TM, Bertini ES, Kirschner J, Alberti S, Tartaglia M, Wirth B.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Cell Mol Life Sci. 2022 Sep 22;79(10):526. doi: 10.1007/s00018-022-04544-3.
PubMed PMID: 36136249
Hudecova I, Smith CG, Hänsel-Hertsch R, Chilamakuri CS, Morris JA, Vijayaraghavan A, Heider K, Chandrananda D, Cooper WN, Gale D, Garcia-Corbacho J, Pacey S, Baird RD, Rosenfeld N, Mouliere F.
Characteristics, origin, and potential for cancer diagnostics of ultrashort plasma cell-free DNA.
Genome Res. 2022 Feb;32(2):215-227. doi: 10.1101/gr.275691.121. Epub 2021 Dec 20.
PubMed PMID: 34930798
Leenen E, Erger F, Altmüller J, Wenzel A, Thiele H, Harth A, Tschernoster N, Lokhande S, Joerres A, Becker JU, Ekici A, Huettel B, Beck B, Weidemann A.
Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.
Nephrol Dial Transplant. 2022 Sep 22;37(10):1895-1905. doi: 10.1093/ndt/gfac163.
PubMed PMID: 35485766
Metry EL, Garrelfs SF, Peters-Sengers H, Hulton SA, Acquaviva C, Bacchetta J, Beck BB, Collard L, Deschênes G, Franssen C, Kemper MJ, Lipkin GW, Mandrile G, Mohebbi N, Moochhala SH, Oosterveld MJS, Prikhodina L, Hoppe B, Cochat P, Groothoff JW; OxalEurope Consortium.
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.
Kidney Int Rep. 2021 Nov 26;7(2):210-220
PubMed PMID: 35155860
Muinos-Bühl A, Rombo R, Janzen E, Ling KK, Hupperich K, Rigo F, Bennett CF, Wirth B.
Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks.
Neurobiol Dis. 2022 Sep;171:105795. doi: 10.1016/j.nbd.2022.105795. Epub 2022 Jun 18.
PubMed PMID: 35724821
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Duenas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong H, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ.
Loss of CEP162 function at the primary cilium delays ciliogenesis and causes retinal ciliopathy in humans.
bioRxix 2021
doi: https://doi.org/10.1101/2021.11.23.469779
Overhoff M, Tellkamp F, Hess S, Tolve M, Tutas J, Faerfers M, Ickert L, Mohammadi M, De Bruyckere E, Kallergi E, Delle Vedove A, Nikoletopoulou V, Wirth B, Isensee J, Hucho T, Puchkov D, Isbrandt D, Krueger M, Kloppenburg P, Kononenko NL.
Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse.
EMBO J. 2022 Nov 17;41(22):e110963. doi: 10.15252/embj.2022110963. Epub 2022 Oct 11.
PubMed PMID: 36217825
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain. 2022 Jul 27:awac278. doi: 10.1093/brain/awac278. Epub ahead of print
PubMed PMID: 35979925
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet. 2022;59(2):170-179.
PubMed PMID: 33323470
Recker P, Beck BB, Sikora P, Göbel H, Kemper MJ, Nazco A, Martin-Higueras C, Hoppe B.
Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I.
Sci Rep. 2022 Oct 6;12(1):16725. doi: 10.1038/s41598-022-19584-9.
PubMed PMID: 36202824
Reusch B, Bartram MP, Dafinger C, Palacio-Escat N, Wenzel A, Fenton RA, Saez-Rodriguez J, Schermer B, Benzing T, Altmüller J, Beck BB, Rinschen MM.
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
J Proteomics. 2022 Feb 10;252:104424
PubMed PMID: 34775100
Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium; Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A.
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4.
PubMed PMID: 35318785
Schurek HJ, Maisel P, Helmchen U, Reusch B, Pekrun A.
Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?
Case Rep Nephrol Dial. 2022 Nov 11;12(3):226-233. doi: 10.1159/000527330.
PubMed PMID: 36465576
Sikora P, Grenda R, Kowalczyk M, Kieć-Wilk B, Bieniaś B, Rubik J, Szymczak M, Nosek H, Surowiec P, Marquardt T, Beck BB, Zaniew M.
Nephropathic cystinosis in Poland: a 40-year retrospective study.
Pol Arch Intern Med. 2022 Nov 25;132(11):16320. doi: 10.20452/pamw.16320. Epub 2022 Aug 22.
PubMed PMID: 35997069
Tjiang N, Zempel H.
A mitochondria cluster at the proximal axon initial segment controls axodendritic TAU trafficking in rodent primary and human iPSC-derived neurons.
Cell Mol Life Sci. 2022 Feb 4;79(2):120.
PubMed PMID: 35119496
Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, Altmüller J.
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
J Mol Diagn. 2022 Jun;24(6):619-631. doi: 10.1016/j.jmoldx.2022.02.006. Epub 2022 Apr 8.
PubMed PMID: 35398599
Vrettou S, Wirth B.
S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases.
Int J Mol Sci. 2022 Dec 13;23(24):15849. doi: 10.3390/ijms232415849.
PubMed PMID: 36555492
Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schürfeld C, Seitz R, Bernhardt W, Gödel M, Wiesener A, Popp B, Stark KJ, Gröne HJ, Friedrich B, Weiß M, Basic-Jukic N, Schiffer M, Schröppel B, Huettel B, Beck BB; Genomics England Research Consortium; Sayer JA, Ziegler C, Büttner-Herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS.
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int. 2022 Aug;102(2):405-420. doi: 10.1016/j.kint.2022.04.031. Epub 2022 May 26.
PubMed PMID: 35643372
Zilio E, Piano V, Wirth B.
Mitochondrial Dysfunction in Spinal Muscular Atrophy.
Int J Mol Sci. 2022 Sep 17;23(18):10878. doi: 10.3390/ijms231810878.
PubMed PMID: 36142791
Bachmann S, Bell M, Klimek J, Zempel H.
Differential Effects of the Six Human TAU Isoforms: Somatic Retention of 2N-TAU and Increased Microtubule Number Induced by 4R-TAU.
Front Neurosci. 2021 May 25;15:643115. doi: 10.3389/fnins.2021.643115.
PubMed PMID: 34113229
Bachmann S, Linde J, Bell M, Spehr M, Zempel H, Zimmer-Bensch G.
DNA Methyltransferase 1 (DNMT1) Shapes Neuronal Activity of Human iPSC-Derived Glutamatergic Cortical Neurons.
Int J Mol Sci. 2021 Feb 18;22(4):2034.
PubMed PMID: 33670788
Bell M, Zempel H.
SH-SY5Y-derived neurons: a human neuronal model system for investigating TAU sorting and neuronal subtype-specific TAU vulnerability.
Rev Neurosci. 2021 Apr 16. doi: 10.1515/revneuro-2020-0152. Epub ahead of print.
PubMed PMID: 33866701
Bell M, Bachmann S, Klimek J, Langerscheidt F, Zempel H.
Axonal TAU Sorting Requires the C-terminus of TAU but is Independent of ANKG and TRIM46 Enrichment at the AIS.
Neuroscience. 2021 May 1;461:155-171
PubMed PMID: 33556457
Bergbreiter A, Jaeger T, Karle A, Bitzinger D, Ettl T, Spanier G, Jägle H, Neu R, Söder Y, Evert M, Reichert TE, Berneburg M, Brochhausen C, Schreml J, Fliegauf M, Salzer U, Redel A, Schreml S.
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation.
Eur J Med Genet. 2021 Mar;64(3):104144.
PubMed PMID: 33486103
Birtel J, Spital G, Book M, Habbig S, Bäumnern S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, Charbel Issa P
Occult retinopathy in patients with severe kidney disease: NPHP1-associated ciliopathy
Invest Ophtal & Visual Sci;2021: 62 (8)
Birtel J, Spital G, Book M, Habbig S, Bäumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, Issa PC.
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Kidney Int. 2021 Jun 18:S0085-2538(21)00600-1
PMID: 34153329
Bolz HJ.
Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective. Klin Monbl Augenheilkd. 2021 Mar;238(3):261-266.
PubMed PMID: 33784789
Buettner JM, Sime Longang JK, Gerstner F, Apel KS, Blanco-Redondo B, Sowoidnich L, Janzen E, Langenhan T, Wirth B, Simon CM.
Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models.
iScience. 2021 Oct 30;24(11):103376.
PubMed PMID: 34825141
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Kidney Int. 2021 Apr 30:S0085-2538(21)00459-2.
PubMed PMID: 33940108
Cakmak C, Zempel H
A perspective on human cell models for POLG-spectrum disorders: advantages and disadvantages of CRISPR-Cas-based vs. patient-derived iPSC models
Medizinische Genetik, vol. 33, no. 3, 2021, pp. 245-249.
doi.org/10.1515/medgen-2021-2090
Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L, Polavarapu K, Vengalil S, Preethish-Kumar V, Nandeesh BN, Gökçe Güneş N, Akan O, Candan F, Schrank B, Zuchner S, Murphy D, Kapoor M, Ryten M, Wirth B, Reilly MM, Nalini A, Houlden H, Sarraf P.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol. 2020; 28(4):1344-1355.
PubMed PMID: 33220101
Erger F, Beck BB
A new era of treatment for primary hyperoxaluria type 1.
Nat Rev Nephrol. 2021 Sep;17(9):573-574.
PubMed PMID: 34113016
Fabretti F, Tschernoster N, Erger F, Hedergott A, Buescher AK, Dafinger C, Reusch B, Köntges VK, Kohl S, Bartram MP, Weber LT, Thiele H, Altmueller J, Schermer B, Beck BB, Habbig S.
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Kidney Int Rep. 2021 Jan 29;6(5):1368-1378.
PubMed PMID: 34013115
Fédou C, Camus M, Lescat O, Feuillet G, Mueller I, Ross B, Buléon M, Neau E, Alves M, Goudounéche D, Breuil B, Boizard F, Bardou Q, Casemayou A, Tack I, Dreux S, Batut J, Blader P, Burlet-Schiltz O, Decramer S, Wirth B, Klein J, Saulnier-Blache JS, Buffin-Meyer B, Schanstra JP.
Mapping of the amniotic fluid proteome of fetuses with congenital anomalies of the kidney and urinary tract identifies plastin 3 as a protein involved in glomerular integrity.
J Pathol. 2021 Aug;254(5):575-588.
PubMed PMID: 33987838
Haag N, Zempel H
Persistent astrocytic IL-3 stimulation of microglia slows disease in Alzheimer's: treatment perspectives for Alzheimer's
Signal Transduct Target Ther. 2021 Nov 9;6(1):388.
PubMed PMID: 34753904
Keller N, Paketci C, Altmueller J, Fuhrmann N, Wunderlich G, Schrank B, Unver O, Yilmaz S, Boostani R, Karimiani EG, Motameny S, Thiele H, Nürnberg P, Maroofian R, Yis U, Wirth B, Karakaya M.
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum Mutat. 2021 Apr;42(4):460-472.
PubMed PMID: 33600046
Keller N, Paketci C, Edem P, Thiele H, Yis U, Wirth B, Karakaya M.
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.
Eur J Med Genet. 2021 Feb;64(2):104134
PubMed PMID: 33387674
Kołbuc M, Bieniaś B, Habbig S, Kołek MF, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Motyka R, Tkaczyk M, Sikora P, Beck BB, Zaniew M.
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
J Clin Med. 2021 Jul 24;10(15):3265. doi: 10.3390/jcm10153265.
PubMed PMID: 34362049
Lauffer MC
Organ-on-a-chip technologies to study neuromuscular disorders: possibilities, limitations, and future hopes
Medizinische Genetik, vol. 33, no. 3, 2021, pp. 261-267. doi.org/10.1515/medgen-2021-2085
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet Med. 2021 Apr 8. doi: 10.1038/s41436-021-01152-7. Epub ahead of print.
PubMed PMID: 33833410
Mählich D, Glasmacher A, Müller I, Oppermann J, Grevenstein D, Eysel P, Heilig J, Wirth B, Zaucke F, Niehoff A.
Expression and Localization of Thrombospondins, Plastin 3, and STIM1 in Different Cartilage Compartments of the Osteoarthritic Varus Knee.
Int J Mol Sci. 2021 Mar 17;22(6):3073
PubMed PMID: 33802838
Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, Acquaviva C, Zaniew M, Sikora P, Beck BB, Hoppe B.
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3.
Kidney Int. 2021 Apr 16:S0085-2538(21)00386-0
PubMed PMID: 33865885
Meeser A, Beck BB, Dübbers M, Habbig S, Kobe C, Koerber F, Dötsch J, Nüsken KD, Weber LT, Landgraf P, DeCarolis B, Liebau MC.
Arterial Hypertension in a 10-Year-Old Girl.
Am J Kidney Dis. 2021 Mar;77(3):A11-A13
PubMed PMID: 33618821
Morlot S and Netzer C
Genetic counseling in times of genomic analyses – current aspects of common topics in human genetics practice
Medizinische Genetik, vol. 33, no. 1, 2021, pp. 1-2.
doi.org/10.1515/medgen-2021-2050
Motyka R, Kołbuc M, Wierzchołowski W, Beck BB, Towpik IE, Zaniew M.
Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.
Am J Case Rep. 2021 Feb 2;22:e928994
PubMed PMID: 33526762
Netzer C, Velmans C, Erger F, Schreml J
Carrier testing for autosomal recessive disorders: a look at current practice in Germany
Medizinische Genetik, vol. 33, no. 1, 2021, pp. 13-19.
https://doi.org/10.1515/medgen-2021-2052
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium, Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain. 2021 Mar 3;144(2):584-600.
PubMed PMID: 33559681
Pavinato L, Nematian-Ardestani E, Zonta A, De Rubeis S, Buxbaum J, Mancini C, Bruselles A, Tartaglia M, Pessia M, Tucker SJ, D'Adamo MC, Brusco A.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int J Mol Sci. 2021 Jun 4;22(11):6064. doi: 10.3390/ijms22116064.
PubMed PMID: 34199759
Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Med Genet A. 2021 Jun;185(6):1712-1720.
PubMed PMID: 33675273
Petry-Schmelzer JN, Keller N, Karakaya M, Wirth B, Fink GR, Wunderlich G. VPS13D: One Family, Same Mutations, Two Phenotypes.
Mov Disord Clin Pract. 2021 May 5;8(5):803-806. doi: 10.1002/mdc3.13232.
PubMed PMID: 34307758
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol. 2021 Nov;32(11):2885-2899.
PubMed PMID: 34607910
Schloss, N, Wirth, B, Kruse, T et al.
Diagnostik und Therapie der spinalen Muskelatrophie (SMA) bei Erwachsenen.
DGNeurologie 4, 501–515 (2021).
doi.org/10.1007/s42451-021-00386-8
Schützmann MP, Hasecke F, Bachmann S, Zielinski M, Hänsch S, Schröder GF, Zempel H, Hoyer W.
Endo-lysosomal Aβ concentration and pH trigger formation of Aβ oligomers that potently induce Tau missorting.
Nat Commun. 2021 Jul 30;12(1):4634. doi: 10.1038/s41467-021-24900-4.
PubMed PMID: 34330900
Theobald SJ, Simonis A, Georgomanolis T, Kreer C, Zehner M, Eisfeld HS, Albert MC, Chhen J, Motameny S, Erger F, Fischer J, Malin JJ, Gräb J, Winter S, Pouikli A, David F, Böll B, Koehler P, Vanshylla K, Gruell H, Suárez I, Hallek M, Fätkenheuer G, Jung N, Cornely OA, Lehmann C, Tessarz P, Altmüller J, Nürnberg P, Kashkar H, Klein F, Koch M, Rybniker J.
Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
EMBO Mol Med. 2021 Jun 16:e14150. doi: 10.15252/emmm.202114150. Epub ahead of print.
PubMed PMID: 34133077
Tkaczyk M, Gadomska-Prokop K, Załuska-Leśniewska I, Musiał K, Zawadzki J, Jobs K, Porowski T, Rogowska-Kalisz A, Jander A, Kirolos M, Haliński A, Krzemień A, Sobieszczańska-Droździel A, Zachwieja K, Beck BB, Sikora P, Zaniew M.
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Ren Fail. 2021 Dec;43(1):62-70.
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Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet. 2021 Jul 28:jmedgenet-2020-107470. doi: 10.1136/jmedgenet-2020-107470. Epub ahead of print.
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Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Czibere L, Durner J, Eggermann K, Olgemöller B, Harms E, Schara U, Kölbel H, Müller-Felber W.
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Orphanet J Rare Dis. 2021 Mar 31;16(1):153.
PubMed PMID: 33789695
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet. 2021 Feb 4;108(2):357-367.
PubMed PMID: 33508234
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Spinal Muscular Atrophy: In the Challenge Lies a Solution.
Trends Neurosci. 2021 Apr;44(4):306-322.
PubMed PMID: 33423791
Wolff L, Strathmann EA, Müller I, Mählich D, Veltman C, Niehoff A, Wirth B.
Plastin 3 in health and disease: a matter of balance.
Cell Mol Life Sci. 2021 Jul;78(13):5275-5301.
PubMed PMID: 34023917
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet. 2021 Jul 10:ddab192. doi: 10.1093/hmg/ddab192. Epub ahead of print.
PubMed PMID: 34245260
Zimmer-Bensch G, Zempel H.
DNA Methylation in Genetic and Sporadic Forms of Neurodegeneration: Lessons from Alzheimer's, Related Tauopathies and Genetic Tauopathies.
Cells. 2021 Nov 7;10(11):3064.
PubMed PMID: 34831288
Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P.
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Ophthalmol Retina. 2020 May;4(5):523-529.
PubMed PMID: 32147488
Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P. Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Genes (Basel). 202028;11(2):137.
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Bolz HJ.
Update of a classic.
Eur J Hum Genet. 2020 May;28(5):691.
PubMed PMID: 31754266
Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, Gokce I, König J, Kowalewska C, Massella L, Mastrangelo A, Mekahli D, Pape L, Patzer L, Potemkina A, Schalk G, Schild R, Shroff R, Szczepanska M, Taranta-Janusz K, Tkaczyk M, Weber LT, Wühl E, Wurm D, Wygoda S, Zagozdzon I, Dötsch J, Oh J, Schaefer F, Liebau MC; ARegPKD consortium.
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
Sci Rep. 2020 Sep 29;10(1):16025.
PubMed PMID: 32994492
Butt L, Unnersjö-Jess D, Höhne M, Edwards A, Binz-Lotter J, Reilly D, Hahnfeldt R, Ziegler V, Fremter K, Rinschen MM, Helmstädter M, Ebert LK, Castrop H, Hackl MJ, Walz G, Brinkkoetter PT, Liebau MC, Tory K, Hoyer PF, Beck BB, Brismar H, Blom H, Schermer B, Benzing T.
A molecular mechanism explaining albuminuria in kidney disease
Nat Metab. 2020 May;2(5):461-474.
PubMed PMID: 32694662
Czibere L, Burggraf S, Fleige T, Glück B, Keitel LM, Landt O, Durner J, Röschinger W, Hohenfellner K, Wirth B, Müller-Felber W, Vill K, Becker M.
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
Eur J Hum Genet. 2020;28:23-30
PubMed PMID: 31363188
Eggermann K, Gläser D, Abicht A, Wirth B
Spinal muscular atrophy (5qSMA): best practice of diagnostics, newborn screening and therapy
Medizinische Genetik 32 (3), 263-272
https://www.degruyter.com/view/journals/medgen/32/3/article-p263.xml
Erger F, Nörling D, Borchert D, Leenen E, Habbig S, Wiesener MS, Bartram MP, Wenzel A, Becker C, Toliat MR, Nürnberg P, Beck BB, Altmüller J.
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA. Genome Med. 2020;12(1):54.
PubMed PMID: 32580754
Etich J, Leßmeier L, Rehberg M, Sill H, Zaucke F, Netzer C, Semler O.
Osteogenesis imperfecta-pathophysiology and therapeutic options.
Mol Cell Pediatr. 2020;7(1):9.
PubMed PMID: 32797291
Hackl A, Erger F, Skerka C, Wenzel A, Tschernoster N, Ehren R, Burgmaier K, Riehmer V, Licht C, Kirschfink M, Weber LT, Altmueller J, Zipfel PF, Habbig S.
Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies.
Clin Nephrol. 2020 Oct;94(4):197-206.
PubMed PMID: 32870147
Keller N, Mendoza-Ferreira N, Maroofian R, Chelban V, Khalil Y, Mills PB, Boostani R, Torbati PN, Karimiani EG, Thiele H, Houlden H, Wirth B, Karakaya M.
Hereditary Polyneuropathy With Optic Atrophy Due to PDXK Variant Leading to Impaired Vitamin B6 Metabolism
Neuromuscul Disord. 2020 Jul;30(7):583-589.
PubMed PMID: 32522499
Kirschner J, Becker J, Schorling D, Pechmann A, Wirth B.
Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Neurology. 2020;95(3):145.
PubMed PMID: 32690781
Koehler S, Kuczkowski A, Kuehne L, Jüngst C, Hoehne M, Grahammer F, Eddy S, Kretzler M, Beck BB, Höhfeld J, Schermer B, Benzing T, Brinkkoetter PT, Rinschen MM.
Proteome Analysis of Isolated Podocytes Reveals Stress Responses in Glomerular Sclerosis.
J Am Soc Nephrol. 2020;31(3):544-559.
PubMed PMID: 32047005
Kołbuc M, Leßmeier L, Salamon-Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, Wysocki J, Beck BB, Zaniew M.
Hypomagnesemia is underestimated in children with HNF1B mutations.
Pediatr Nephrol. 2020 Oct;35(10):1877-1886.
PubMed PMID: 32388583
Kruse T, Heller R, Wirth B, Glöggler J, Wurster CD, Ludolph AC, Braumann B. Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.
Acta Myol. 2020;39(2):83-89.
PubMed PMID: 32904902
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A.
The adult phenotype of Schaaf-Yang syndrome.
Orphanet J Rare Dis. 2020 Oct 19;15(1):294.
PubMed PMID: 33076953
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S;
RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
J Mol Diagn. 2020;22(9):1205-1215.
PubMed PMID: 32619640
Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet. 2020 Sep 10;107(4):763-777.
PubMed PMID: 32937143
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H.
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening -Opportunity or Burden?
J Neuromuscul Dis. 2020;7(2):109-117
PubMed PMID: 32144995
Negrete-Hurtado A, Overhoff M, Bera S, De Bruyckere E, Schätzmüller K, Kye MJ, Qin C, Lammers M, Kondylis V, Neundorf I, Kononenko NL.
Autophagy lipidation machinery regulates axonal microtubule dynamics but is dispensable for survival of mammalian neurons.
Nat Commun. 2020 Mar 24;11(1):1535.
PubMed PMID: 32210230
Paketci C, Karakaya M, Edem P, Bayram E, Keller N, Daimagüler HS, Cirak S, Jordanova A, Hiz S, Wirth B, Yiş U.
Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.
Rev Neurol (Paris). 2020 Jul 21;S0035-3787(20)30589-0.
PubMed PMID: 32709422
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S.
The genomic and clinical landscape of fetal akinesia.
Genet Med. 2020;22(3):511-523.
PubMed PMID: 31680123
Rehberg M, Etich J, LessmeierL, Sill H, NetzerC, Semler O.
Osteogenesis imperfecta: Pathophysiology and current treatment strategies.
Med Gen. 2020;31(4)372-381
Rohrschneider K, Bolz HJ.
[The Bardet-Biedl Syndrome - Diagnosis and Follow-up].
Klin Monbl Augenheilkd. 2020;237(3):239-247.
PubMed PMID: 32182628
Schiltz D, Tschernitz S, Ortner C, Anker A, Klein S, Felthaus O, Biermann N, Schreml J, Prantl L, Schreml S.
Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat.
Aesthetic Plast Surg. 2020 Jun;44(3):855-861
PubMed PMID: 32157376
Sikora P, Zaniew M, Grenda R, Jobs K, Rubik J, Zawadzki J, Myślak M, Durlik M, Erger F, Bieniaś B, Hoppe B, Beck BB.
Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.
Pol Arch Intern Med. 2020 Dec 22;130(12):1053-1063. doi: 10.20452/pamw.15698. Epub 2020 Dec 4.
PubMed PMID: 33274618
Taylan C, Wenzel A, Erger F, Göbel H, Weber LT, Beck BB.
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease.
Front Pediatr. 2020;8:42.
PubMed PMID: 32219082
Thelen MP, Kye MJ.
The Role of RNA Binding Proteins for Local mRNA Translation: Implications in Neurological Disorders.
Front Mol Biosci. 2020;15;6:161.
PubMed PMID: 32010708
Thelen MP, Wirth B, Kye MJ.
Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons.
Acta Neuropathol Commun. 2020 Dec 22;8(1):223. doi: 10.1186/s40478-020-01101-6.
PubMed PMID: 33353564
van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nüchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Mörgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Am J Hum Genet. 2020 Nov 5;107(5):989-999.
PubMed PMID: 33053334
Walsh MB, Janzen E, Wingrove E, Hosseinibarkooie S, Muela NR, Davidow L, Dimitriadi M, Norabuena EM, Rubin LL, Wirth B, Hart AC.
Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.
BMC Biol. 2020;18(1):127.
PubMed PMID: 32938453
Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N.
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Annu Rev Genomics Hum Genet. 2020 Aug 31;21:231-261.
PubMed PMID: 32004094
Wunram HL, Neufang S, Körber F, Heller R, Blick S, Malchau G, Bloch W, Dabringhaus A, Kraemer M, Clajus TC, Ziemendorff A, Abuhsin F, Steffen A, Schönau E, Dötsch J, Bender S, Fricke O
Insulin-Like-Growth Factor 1 Moderates the Influence of the BDNF P.Val66Met Variant on Depression Severity in Adolescent Depression
Journal of Psychiatry and Psychiatric Disorders 4 (2020): 235-255.
Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat. 2020;41(3):591-599.
PubMed PMID: 31821646
Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, Wenzel A, Tory K, Häeffner K, Wolf MTF, Bleyer ME, Sayer JA, Ong ACM, Balogh L, Jakubowska A, Łaszkiewicz A, Clissold R, Shaw-Smith C, Munshi R, Haws RM, Izzi C, Capelli I, Santostefano M, Graziano C, Scolari F, Sussman A, Trachtman H, Decramer S, Matignon M, Grimbert P, Shoemaker LR, Stavrou C, Abdelwahed M, Belghith N, Sinclair M, Claes K, Kopel T, Moe S, Deltas C, Knebelmann B, Rampoldi L, Kmoch S, Bleyer AJ.
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.
Kidney Int. 2020 Aug 1;S0085-2538(20)30838-3.
PubMed PMID: 32750457
Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B.
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.
J Obstet Gynaecol. 2019;39(3):395-397.
PubMed PMID: 29893154
Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J.
Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
J Bone Miner Res. 2019;34(1):93-105.
PubMed PMID: 30347474
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P.
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PLoS One. 2018 Dec 13;13(12):e0207958.
PubMed PMID: 30543658
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P.
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Clin Exp Ophthalmol. 2019 Aug;47(6):779-786
PubMed PMID: 30977268
Charbel Issa P, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, Downes SM, MacLaren RE, Betz C, Bolz HJ.
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.
Invest Ophthalmol Vis Sci. 2019;60(10):3388-3397.
PubMed PMID: 31387115
Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003.
PubMed PMID: 30609407
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nuernberg P, Motameny S, Thiele H, Cirak S.
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Cold Spring Harb Mol Case Stud. 2019 Oct 11. pii: mcs.a004465. doi: 10.1101/mcs.a004465. [Epub ahead of print]
PubMed PMID: 31604777
Edem P, KarakayaM, WirthB, Okur TD, Yiş U.
Giant axonal neuropathy: A differential diagnosis of consideration.
Turk J Pediatr. 2019;61(2):275-278
PubMed PMID: 31951341
Erger F, Schaaf CP, Netzer C.
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
Mol Cell Probes. 2019;45:84-88.
PubMed PMID: 30914295
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med. 2019 Aug;21(8):1797-1807
PubMed PMID: 30679821
Garrelfs SF, Rumsby G, Peters-Sengers H, ErgerF, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin GW, Hoppe B, Hulton SA; OxalEurope Consortium.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Kidney Int. 2019 Dec;96(6):1389-1399.
PubMed PMID: 31685312
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A
Report of a novel ATP7A mutation causing distal motor neuropathy.
Neuromuscul Disord. 2019 Aug 23. 29(10):776-785
PubMed PMID: 31558336
Hoyer-Kuhn H, Rehberg M, Netzer C, Schoenau E, Semler O.
Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort.
Orphanet J Rare Dis. 2019 Sep 18;14(1):219.
PubMed PMID: 31533771
Jansen E, Wolff L, Mendoza-Ferreira N, Hupperich K, Delle Vedove A, Hosseinibarkooie S, Kye MJ, Wirth B.
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Front Neurosci. 2019 Sep 19;13:993.
PubMed PMID: 31607845
Kalbe E, Roheger M, Paluszak K, Meyer J, Becker J, Fink GR, Kukolja J, Rahn A, Szabados F, Wirth B, Kessler J.
Effects of a Cognitive Training With and Without Additional Physical Activity in Healthy Older Adults: A Follow-Up 1 Year After a Randomized Controlled Trial.
Front Aging Neurosci. 2018 Dec 18;10:407
PubMed PMID: 30618714
Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B.
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Am J Med Genet A. 2019 Aug;179(8):1580-1584
PubMed PMID: 31102495
Karakaya M, Wirth B.
Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein.
Brain. 2019 Oct 1;142(10):2895-2897.
PubMed PMID: 31560060
Lagies R, Udink Ten Cate FEA, Feldkötter M, Beck BB, Sreeram N, Hoppe B, Herberg U. Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study.
Pediatr Nephrol. 2019 Aug 22
PubMed PMID: 31440827
Laugsch M, Bartusel M, Rehimi R, Alirzayeva H, Karaolidou A, Crispatzu G, Zentis P, Nikolic M, Bleckwehl T, Kolovos P, van Ijcken WFJ, Šarić T, Koehler K, Frommolt P, Lachlan K, Baptista J, Rada-Iglesias A.
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.
Cell Stem Cell. 2019;24(5):736-752.
PubMed PMID: 30982769
Lindner A, Marbach F, Tschernitz S, Ortner C, Berneburg M, Felthaus O, Prantl L, Kye MJ, Rappl G, Altmüller J, Thiele H, Schreml S, Schreml J.
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.
Sci Rep. 20191;9(1):8444.
Pubmed PMID: 31186450
Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet. 2019;104(4):749-757.
Pubmed PMID: 30905398
Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR.
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Stem Cell Res. 2019 Dec;41:101626.
PubMed PMID: 31715429
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet. 2019 Oct 3;105(4):836-843.
PubMed PMID: 31564437
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet. 2019 Aug 1;105(2):384-394
PubMed PMID: 31256876
Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S.
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Pediatr Nephrol. 2019;34(6):1065-1075.
PubMed PMID: 30666461
Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J. 2019 Oct;33(10):11507-11527.
Pubmed PMID: 31345061
Rehorst WA, Thelen MP, Nolte H, Türk C, Cirak S, Peterson JM, Wong GW, Wirth B, Krüger M, Winter D, Kye MJ
Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy.
Acta Neuropathol Commun. 2019 Oct 15;7(1):154
PubMed PMID: 31615574
Schorling DC, Becker J, Pechmann A, Langer T, Wirth B, Kirschner J.
Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Neurology. 2019 Aug 6;93(6):267-269.
PubMed PMID: 31235659
Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN. Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
J Autism Dev Disord. 2018 Oct 20.
PubMed PMID: 30343463
Torres-Benito L, Schneider S, Rombo R, Ling KK, Grysko V, Upadhyay A, Kononenko NL, Rigo F, Bennett CF, Wirth B.
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
Am J Hum Genet. 2019;105(1):221-230.
PubMed PMID: 31230718
Upadhyay A, Hosseinibarkooie S, Schneider S, Kaczmarek A, Torres-Benito L, Mendoza-Ferreira N, Overhoff M, Rombo R, Grysko V, Kye MJ, Kononenko NL, Wirth B.
Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.
Front Mol Neurosci. 2019 Feb 12
PubMed PMID: 30853885
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med. 2019;21(6):1295-1307.
PubMed PMID: 30696996
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W.
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428.
PubMed PMID: 31594245
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med. 2018;21(3):663-675.
PubMed PMID: 30158690
Zempel H, Mandelkow E.
Mechanisms of Axonal Sorting of Tau and Influence of the Axon Initial Segment on Tau Cell Polarity.
Adv Exp Med Biol. 2019;1184:69-77.
PubMed PMID: 32096029
Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B.
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.
J Obstet Gynaecol. 2018 Jun 12:1-3. doi: 10.1080/01443615.2018.1454415. [Epub ahead of print]
No abstract available.
PubMed PMID: 29893154
Beck BB.
“Old friends, new friends” – Neues zu ATKD-MUC1.
Nephrol. 2018;13:43-44.
Beck BB, Netzer C
Einführung zum Thema: Erbliche Nierenerkrankungen. Die Nephrogenetik wird erwachsen.
Medizinische Genetik 2018;30(4):389-390.
Belostotsky R, Lyakhovetsky R, Sherman MY, Shkedy F, Tzvi-Behr S, Bar R, Hoppe B, Reusch B, Beck BB, Frishberg Y.
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
J Mol Med (Berl). 2018 Jul;96(7):621-630. doi: 10.1007/s00109-018-1651-8. Epub 2018 May 18.
PubMed PMID: 29777253
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P.
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.
PubMed PMID: 29555955
Boehm V, Britto-Borges T, Steckelberg AL, Singh KK, Gerbracht JV, Gueney E, Blazquez L, Altmüller J, Dieterich C, Gehring NH.
Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity.
Mol Cell. 2018 Nov 1;72(3):482-495.e7. doi: 10.1016/j.molcel.2018.08.030.
PubMed PMID: 30388410
Bolz HJ.
Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.
Eur J Hum Genet. 2018 Jul;26(7):930. doi: 10.1038/s41431-018-0162-y. Epub 2018 May 25. No abstract available.
PubMed PMID: 29795473
Bolz HJ.
Despite Challenges and Pitfalls: How Ophtalmology Benefits from the Use of next-generation Sequencing Klin Monbl Augenheilkd. 2018 Mar;235(3):258-263. doi: 10.1055/s-0043-122076. Epub 2018 Feb 1
PubMed PMID: 29390234
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
PubMed PMID: 30179222
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium.
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J Pediatr. 2018; 199:22-28.
PubMed PMID: 29753540
Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T. Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.
PubMed PMID: 29800053
Dron JS, Wang J, Berberich AJ, Iacocca MA, Cao H, Yang P, Knoll J, Tremblay K, Brisson D, Netzer C, Gouni-Berthold I, Gaudet D, Hegele RA.
Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.
J Lipid Res. 2018 Aug;59(8):1529-1535. doi: 10.1194/jlr.P086280. Epub 2018 Jun 4.
PubMed PMID: 29866657
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12.
PubMed PMID: 29309402
Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C.
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0195-2. [Epub ahead of print]
PubMed PMID: 29891879
Erger F
Monoogene Formen der arteriellen Hypertonie.
Medizinische genetik 2018;30(4): 391-399
Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.
PubMedPMID: 29305137
George J, Walter V, Peifer M, Alexandrov LB, Seidel D, Leenders F, Maas L, Müller C, Dahmen I, Delhomme TM, Ardin M, Leblay N, Byrnes G, Sun R, De Reynies A, McLeer-Florin A, Bosco G, Malchers F, Menon R, Altmüller J, Becker C, Nürnberg P, Achter V, Lang U, Schneider PM, Bogus M, Soloway MG, Wilkerson MD, Cun Y, McKay JD, Moro-Sibilot D, Brambilla CG, Lantuejoul S, Lemaitre N, Soltermann A, Weder W, Tischler V, Brustugun OT, Lund-Iversen M, Helland Å, Solberg S, Ansén S, Wright G, Solomon B, Roz L, Pastorino U, Petersen I, Clement JH, Sänger J, Wolf J, Vingron M, Zander T, Perner S, Travis WD, Haas SA, Olivier M, Foll M, Büttner R, Hayes DN, Brambilla E, Fernandez-Cuesta L, Thomas RK.
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.
Nat Commun. 2018 Mar 13;9(1):1048. doi: 10.1038/s41467-018-03099-x.
PubMed PMID: 29535388
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002.
PubMed PMID: 30100084
Gillentine MA, Lozoya R, Yin J, Grochowski CM, White JJ, Schaaf CP, Calarge CA.
CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders.
J Affect Disord. 2018 Jul 11;239:247-252. doi: 10.1016/j.jad.2018.07.017. [Epub ahead of print]
PubMed PMID: 30029151
Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP.
An estimation of the prevalence of genomic disorders using chromosomal microarray data.
J Hum Genet. 2018 Jul;63(7):795-801. doi: 10.1038/s10038-018-0451-x. Epub 2018 Apr 24.
PubMed PMID: 29691480
Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ.
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Sci Rep. 2018 May 21;8(1):7907. doi: 10.1038/s41598-018-26347-y. Erratum in: Sci Rep. 2018 Jul 3;8(1):10294.
PubMed PMID: 29784949
Harms FL, Nampoothiri S, Kortüm F, Thomas J, Panicker VV, Alawi M, Altmüller J, Yesodharan D, Kutsche K.
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Br J Dermatol. 2018 Nov;179(5):1192-1194. doi: 10.1111/bjd.16912. Epub 2018 Aug 12.
PubMed PMID: 29947416
Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E.
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.
PubMed PMID: 29522266
Hoefele J, Beck BB, Weber LT, Brinkkötter P.
Steroid-resistentes nephrotisches Syndrom.
Medizinische Genetik 2018;30(4): 410-421
Höhne M, Frese CK, Grahammer F, Dafinger C, Ciarimboli G, Butt L, Binz J, Hackl MJ, Rahmatollahi M, Kann M, Schneider S, Altintas MM, Schermer B, Reinheckel T, Göbel H, Reiser J, Huber TB, Kramann R, Seeger-Nukpezah T, Liebau MC, Beck BB, Benzing T, Beyer A, Rinschen MM.
Single-nephron proteomes connect morphology and function in proteinuric kidney disease.
Kidney Int. 2018 Jun;93(6):1308-1319. doi: 10.1016/j.kint.2017.12.012. Epub 2018 Mar 9.
PubMed PMID: 29530281
Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.
PubMed PMID: 30148849
Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
Brain. 2018 Aug; 141(8): 2343–2361. Published online 2018 Jun 28. doi: 10.1093/brain/awy167
PubMed PMID: 29961886
Karakaya M, Storbeck M, Strathmann EA, Vedove AD, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25.
PubMed PMID: 29858556
Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ.
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9.
PubMed PMID: 28369829
Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS.
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26.
PubMed PMID: 30049680
Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ;
Project Cure SMA Investigator's Network. Clinical trial of L-carnitine and valproic acid in spinal muscular atrophy type I.
Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.
PubMed PMID: 28833236
Madsen JOB, Sauer S, Beck B, Johannesen J.
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.
J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):83-86. doi: 10.4274/jcrpe.4841. Epub 2017 Sep 6.
PubMed PMID: 28874334
Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Hum Mol Genet. 2018 May 15;27(10):1772-1784. doi: 10.1093/hmg/ddy086.
PubMed PMID: 29528393
McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP.
Schaaf-Yang syndrome overview: Report of 78 individuals.
Am J Med Genet A. 2018 Oct 10. doi: 10.1002/ajmg.a.40650. [Epub ahead of print]
PubMed PMID: 30302899
Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B.<
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.
PubMed PMID: 29379881
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.
PubMed PMID: 29290580
Neugebauer J, Heilig J, Hosseinibarkooie S, Ross BC, Mendoza-Ferreira N, Nolte F, Peters M, Hölker I, Hupperich K, Tschanz T, Grysko V, Zaucke F, Niehoff A, Wirth B.
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
Hum Mol Genet. 2018 Sep 10. doi: 10.1093/hmg/ddy318. [Epub ahead of print]
PubMed PMID: 30204862
Peeva V, Blei D, Trombly G, Corsi S, Szukszto MJ, Rebelo-Guiomar P, Gammage PA, Kudin AP, Becker C, Altmüller J, Minczuk M, Zsurka G, Kunz WS.
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Nat Commun. 2018 Apr 30;9(1):1727. doi: 10.1038/s41467-018-04131-w.
PubMed PMID: 29712893
Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.
PubMed PMID: 30388404
Shorrock HK, van der Hoorn D, Boyd PJ, Llavero Hurtado M, Lamont DJ, Wirth B, Sleigh JN, Schiavo G, Wishart TM, Groen EJN, Gillingwater TH.
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy.
Brain. 2018 Oct 1;141(10):2878-2894. doi: 10.1093/brain/awy237.
PubMed PMID: 30239612
Staubach S, Wenzel A, Beck BB, Rinschen MM, Müller S, Hanisch FG.
Autosomal Tubulointerstitial Kidney Disease - Muc1 Type: Differential Proteomics Suggests that Mutated Muc1(Insc) Affects Vesicular Transport in Renal Epithelial Cells.
Proteomics. 2018;18(7). doi: 10.1002/pmic.201700456.
PubMed PMID: 29436780
Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.
Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
PLoS One. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018.
PubMed PMID: 30188931
Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN.
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
J Autism Dev Disord. 2018 Oct 20. doi: 10.1007/s10803-018-3775-7. [Epub ahead of print]
PubMed PMID: 30343463
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet. 2018;103(1):154-162.
PubMed PMID: 29961569
van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Mujgan Sonmez F, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med. 2018 Nov 8. doi: 10.1038/s41436-018-0330-z. [Epub ahead of print]
PubMed PMID: 30349098
van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF.
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Nephron. 2018;139(4):359-366.
PubMed PMID: 29791908
Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.
Pediatr Nephrol. 2018 Jul;33(7):1275-1276. doi: 10.1007/s00467-018-3944-0.
PubMed PMID: 29637271
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J,Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.
PubMed PMID: 29368626
Weigert A, Beck BB, Hoppe B.
Genetische Nierensteinerkrankungen.
Medizinische Genetik 2018;30(4): 438-447.
Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB.
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0.
PubMed PMID: 29520014
Wirth B.
CHP1-Mutation causes cerebellar ataxia
Medizinische Genetik 2018;30(1):226-226
Yu PH, Kuo YR, Altmüller J, Hwang DY.
Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Kaohsiung J Med Sci. 2018 Oct;34(10):588-589. doi: 10.1016/j.kjms.2018.03.010. Epub 2018 Apr 19. No abstract available.
PubMed PMID: 30309488
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med. 2018 Aug 30. doi: 10.1038/s41436-018-0085-6. [Epub ahead of print]
PubMed PMID: 30158690
Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol. 2018 Jul 2. pii: ASN.2018020180. doi: 10.1681/ASN.2018020180. [Epub ahead of print]
PubMed PMID: 29967284
Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MM, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
Genetic heterogeneity in Pakistani microcephaly families revisited.
Clin Genet. 2017;92(1):62-68.
PubMed PMID: 28004384
Ardicli D, Gocmen R, Talim B, Sprute R, Haliloglu G, Cirak S, Topaloglu H.
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
Neuromuscul Disord. 2017;27(3):239-242.
PubMed PMID: 28109637
Awazawa M, Gabel P, Tsaousidou E, Nolte H, Krüger M, Schmitz J, Ackermann PJ, Brandt C, Altmüller J, Motameny S, Wunderlich FT, Kornfeld JW, Blüher M, Brüning JC.
A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Nat Med. 2017 Dec;23(12):1466-1473. doi: 10.1038/nm.4420. Epub 2017 Nov 6.
PubMed PMID: 29106399
Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, Müller RU.
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
BMC Med Genet. 2017;18(1):53.
PubMed PMID: 28499369
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17.
PubMed PMID: 27866708
Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2017;32(5):733-741
PubMed PMID: 27289364
Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Am J Med Genet A. 2017;173(3):806-808.
PubMed PMID: 27901313
Diao Y, Cui L, Chen Y, Burbridge TJ, Han W, Wirth B, Sestan N, Crair MC, Zhang J.
Reciprocal Connections Between Cortex and Thalamus Contribute to Retinal Axon Targeting to Dorsal Lateral Geniculate Nucleus.
Cereb Cortex. 2017;10:1-15.
PubMed PMID: 28334242
Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC.
Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Pediatr Nephrol. 2017;32(7):1269-1273
PubMed PMID: 28364132
Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber LT, Beck BB, Liebau MC.
A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome.
Clin Nephrol. 2017;88(1):45-51.
PubMed PMID: 28502323
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet. 2017;101(5)
PubMed PMID: 29100093
Erger F, Brüchle NO, Gembruch U, Zerres K.
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Arch Gynecol Obstet. 2017;295(4):897-906.
PubMed PMID: 28283827
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R.
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum Mol Genet. 2017 Oct 15;26(20):4055-4066. doi: 10.1093/hmg/ddx296.
PubMed PMID: 29016863
Finkel RS, Sejersen T, Mercuri E; ENMC SMA Workshop Study Group (incl. Wirth B).
218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.
Neuromuscul Disord. 2017;27(6):596-605.
PubMed PMID: 28392274
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nat Genet. 2017;49(2):249-255.
PubMed PMID: 28067911
Hackl A, Ehren R, Kirschfink M, Zipfel PF, Beck BB, Weber LT, Habbig S.
Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS.
Pediatr Nephrol. 2017;32(6):1081-1087.
PubMed PMID: 28220235
Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, Habbig S.
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Pediatr Nephrol. 2017;32(5):791-800.
PubMed PMID: 28083701
Hahnen E, Lederer B, Hauke J, Loibl S, Kröber S, Schneeweiss A, Denkert C, Fasching PA, Blohmer JU, Jackisch C, Paepke S, Gerber B, Kümmel S, Schem C, Neidhardt G, Huober J, Rhiem K, Costa S, Altmüller J, Hanusch C, Thiele H, Müller V, Nürnberg P, Karn T, Nekljudova V, Untch M, von Minckwitz G, Schmutzler RK.
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
JAMA Oncol. 2017 Oct 1;3(10):1378-1385. doi: 10.1001/jamaoncol.2017.1007.
PubMed PMID: 28715532
Haverkampf S, Heider J, Weiß KT, Berneburg M, Karrer S, Schreml S, Haubner F, Ettl T, Schreml J, Hedtrich S, von Süßkind-Schwendi M, Dissemond J.
NHE1 expression at wound margins increases time-dependently during physiological healing.
Exp Dermatol. 2017;26(2):124-126.
PubMed PMID: 27249231
Hosseinibarkooie S, Schneider S, Wirth B.
Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.
Expert Rev Proteomics.2017;14(7):581-592.
PubMed PMID: 28635376
Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J.
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7.
PubMed PMID: 29018201
Karakaya M*, Mazaheri N*, Polat I*, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B.
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Brain. 2017;140(10):e65.
PubMed PMID: 28969388
Karakaya M, Yilmaz S, Storbeck M, Hoelker I, Heller R, Serdaroglu G, Gökben S, Yis U, Wirth B.
PRUNE1: a disease-causing gene for secondary microcephaly.
Brain. 2017;140(10):e61
PubMedPMID: 28969376
Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Sci Rep. 2017;3;7(1):1411.
PubMed PMID: 28469144
Khan AO, Lenzner S, Bolz HJ.
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
Ophthalmic Genet. 2016.38(4):380-382
PubMed PMID: 27668459
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain. 2017;140(6):1561-1578.
PubMed PMID: 28459997
Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B.
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Mol Genet Genomic Med. 2017 Jul 28;5(5):580-584.
PubMed PMID: 28944240
Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit G, Wollnik B.
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Am J Med Genet A. 2017;173(1):264-267.
PubMed PMID: 27753196
Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I.
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin Genet. 2017;92(3):342-343.
PubMed PMID: 28369852
Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B.
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Mol Genet Genomic Med. 2017 Jul 28;5(5):580-584. doi: 10.1002/mgg3.287. eCollection 2017 Sep.
PubMed PMID: 28944240
Neidhardt G, Becker A, Hauke J, Horváth J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmüller J, Nürnberg P, Meindl A, Rhiem K, Blümcke B, Wappenschmidt B, Schmutzler RK, Hahnen E.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Eur J Cancer Prev. 2017 Mar;26(2):165-169. doi: 10.1097/CEJ.0000000000000240.
PubMed PMID: 27622768
Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592.
PubMed PMID: 28033443
Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Clin Genet. 2017;91(6):892-900.
PubMed PMID: 27808407
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26mutated in Heimler syndrome.
Mol Genet Genomic Med. 2017;5(5):531-552.
PubMed PMID: 28944237
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.
PubMed PMID: 29053855
Novak JS, Hogarth MW, Boehler JF, Nearing M, Vila MC, Heredia R, Fiorillo AA, Zhang A, Hathout Y, Hoffman EP, Jaiswal JK, Nagaraju K, Cirak S, Partridge TA.
Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.
Nat Commun. 2017 Oct 16;8(1):941. doi: 10.1038/s41467-017-00924-7.
PubMed PMID: 29038471
O'Hern PJ, do Carmo G Gonçalves I, Brecht J, López Soto EJ, Simon J, Chapkis N, Lipscombe D, Kye MJ, Hart AC.
Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models.
Elife. 2017 May 2;6. pii: e20752. doi: 10.7554/eLife.20752.
PubMed PMID: 28463115
Rademacher S, Verheijen BM, Hensel N, Peters M, Bora G, Brandes G, Vieira de Sá R, Heidrich N, Fischer S, Brinkmann H, van der Pol WL, Wirth B, Pasterkamp RJ, Claus P.
Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).
Hum Mol Genet. 2017;26(20):3946-3959.
PubMed PMID: 29016853
Ralser DJ, Lestringant GG, Du-Thanh A, Kokordelis P, Fischer J, Basmanav FBÜ, Wolf S, Thiele H, Altmüller J, Nürnberg P, Oji V, Fritz G, Frank J, Betz RC.
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Br J Dermatol. 2017 Dec;177(6):e340-e343. doi: 10.1111/bjd.16024. Epub 2017 Nov 29.
PubMed PMID: 29192958
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet. 2017;49(4):537-549.
PubMed PMID: 28191891
Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A. 2017;173(8):2132-2138.
PubMed PMID: 28574232
Riessland M*, Kaczmarek A*, Schneider S*, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am J Hum Genet. 2017;100(2):297-315.
PubMed PMID: 28132687
Salpietro V*, Lin W*, Delle Vedove A*, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar S, Pitt M, Bello O, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.
PubMed PMID: 28253535
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur J Hum Genet. 2017;25(9):1040-1048.
PubMed PMID: 28635954
van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, AltmüllerJ, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.
PubMed PMID: 28714244
Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Pediatr Nephrol. 2017;32(12):2263-2271.
PubMed PMID: 28711958
Weiß KT, Fante M, Köhl G, Schreml J, Haubner F, Kreutz M, Haverkampf S, Berneburg M, Schreml S.
Proton-sensing G protein-coupled receptors as regulators of cell proliferation and migration during tumor growth and wound healing.
Exp Dermatol. 2017;26(2):127-132.
PubMed PMID: 27623507
Wirth B.
Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.
Eur J Hum Genet. 2017 Dec;25(s2):S37-S38. doi: 10.1038/ejhg.2017.151. No abstract available.
PubMed PMID: 29297868
Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ.
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
Front Genet. 2017 Sep 22;8:130
PubMed PMID: 29018476
Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MM, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
Genetic heterogeneity in Pakistani microcephaly families revisited.
Clin Genet. 2016
PubMed PMID: 28004384
Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Nürnberg P.
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.
Biol Chem. 2016 Mar 25.
PubMedID: 27021259
Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz HJ, Bergmann C, Rittinger O.
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Eur J Med Genet. 2016;59(8):386-91
PubMed PMID: 27377014
Bartram MP, Habbig S, Pahmeyer C, Höhne M, Weber LT, Thiele H, Altmüller J, Kottoor N, Wenzel A, Krueger M, Schermer B, Benzing T, Rinschen MM, Beck BB.
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Hum Mol Genet. 2016;25(6):1152-64.
PubMedID: 26740551
Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2016.
PubMedID: 27289364
Bello L, Morgenroth LP, Gordish-Dressman H, Hoffman EP, McDonald CM, Cirak S; CINRG investigators.
DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.
Neurology. 2016.
PubMedID: 27343068
Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B.
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.
Am J Med Genet A. 2016 Dec;170(12):3282-3288
PubMed PMID: 27530281
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Sang KL, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Donato ND, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2.
Hum Mutat. 2016.
PubMedID: 27302555
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group (with Cirak, S.).
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nat Commun. 2016.
PubMedID: 27173435
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M.
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Clin Genet. 2016 Mar 11. doi: 10.1111/cge.12775. [Epub ahead of print]
PubMedID: 26970110
Bolz HJ.
Hereditary Hearing Loss and Its Syndromes Third Edition.
Eur J Hum Genet. 2016;24(11):1650.
PubMed PMID: 27740631
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int. 2015.
PubMedID: 26489029
Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S; German Pediatric Nephrology Association (GPN).
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol. 2016;11(2):245-53.
PubMedID: 26668027
Delle Vedove A.*, Storbeck M.*, Heller R., Hölker I., Hebbar M., Shukla A., Magnusson O., Cirak S., Girisha K.M., O’Driscoll M., Loeys B. and Wirth B.
Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis and scoliosis.
Am J Hum Genet. 2016 Dec 1;99(6):1406-1408
PubMed PMID: 27843126
G Golçalves ID, Rehorst WA, Kye MJ.
DYS-regulation of RNA mediated gene expression in motor neuron diseases.
CNS Neurol Disord Drug Targets. 2016;15:887-95.
PubMed PMID: 27577737
Günther S, Elert-Dobkowska E, Soehn AS, Hinreiner S, Yoon G, Heller R, Hellenbroich Y, Hübner CA, Ray PN, Hehr U, Bauer P, Sulek A, Beetz C
High Frequency of Pathogenic Rearrangements in SPG11, and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat. 2016 Apr 13. doi: 10.1002/humu.23000. [Epub ahead of print]
PubMedID: 27071356
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Nat Genet. 2016;48(1):36-43.
PubMedID: 26595769
Harr B, Karakoc E, Neme R, Teschke M, Pfeifle C, Pezer Ž, Babiker H, Linnenbrink M, Montero I, Scavetta R, Abai MR, Molins MP, Schlegel M, Ulrich RG, Altmüller J, Franitza M, Büntge A, Künzel S, Tautz D.
Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus.
Sci Data. 2016 Sep 13;3:160075
PubMed PMID: 27622383
Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M.
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit.
Elife. 2016.
PubMedID: 27240166
Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M.
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit.
Elife. 2016.
PubMed PMID: 27240166
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
Khan AO, Tamimi M, Lenzner S, Bolz HJ.
Clin Genet. 2016
PubMedID: 26785811
Heesen L*, Peitz M*, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B.
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Cell Mol Life Sci. 2016 May;73(10):2089-104
PubMedID: 26573968
Hosseinibarkooie S*, Peters M*, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Am J Hum Genet. 2016 Sep 1;99(3):647-65.
PubMed PMID: 27499521
Highlight and FREE featured article AJHG
Hoyer-Kuhn H, Franklin J, Allo G, Kron M, Netzer C, Eysel P, Hero B, Schoenau E, Semler O.
Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial.
J Musculoskelet Neuronal Interact. 2016;16(1):24-32.
PubMedID: 26944820
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G,Foulquier F, Marquardt T, Lefeber DJ.
CCDC115 Deficiency Causes a Disorder ofGolgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet. 2016 Feb4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010.
PubMedID: 26833332
Karakaya M, Heller R, Kunde V, Zimmer KP, Chao CM, Nürnberg P, Cirak S.
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
Neuropediatrics. 2016.
PubMedID: 27214504
Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Ophthalmic Genet. 2016;8:1-4.
PubMedID: 26854863
Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Ophthalmic Genet. 2016 Feb 8:1-4. [Epub ahead of print]
PubMedID: 26854863
Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
Br J Ophthalmol. 2016;100(2):209-15.
PubMedID: 26061163
Khan AO, Bolz HJ.
Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
Ophthalmic Genet. 2016 Sep;37(3):301-6
PubMedID: 26885695
Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
Br J Ophthalmol. 2016;100(2):209-15.
PubMedID: 26061163
Khan AO, Lenzner S, Bolz HJ
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
Ophthalmic Genet. 2016 Sep 26:1-3
PubMed PMID: 27668459
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.
PubMedID: 27120771
Moosa S, Wollnik B.
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Semin Cell Dev Biol. 2015;pii: S1084-9521(15)30018-5.
PubMedID: 26686047
Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B. Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Clin Genet. 2016;89:517-9.
PubMedID: 26467156
Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B.
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
Am J Med Genet A. 2016
PubMedID: 26792575
Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Nishimura G, Wollnik B.
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Am J Med Genet A. 2016.
PubMedID: 27354339
Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Clin Genet. 2016.
PubMed PMID: 27808407
Nie M, Bal MS, Yang Z, Liu J, Rivera C, Wenzel A, Beck BB, Sakhaee K, Marciano DK, Wolf MT.
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.
J Am Soc Nephrol. 2016 Apr 1. pii: ASN.2015101100. [Epub ahead of print]
PubMedID: 27036738
Prantl L, Schreml J, Gehmert S, Klein S, Bai X, Zeitler K, Schreml S, Alt E, Gehmert S, Felthaus O.
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells.
Plast Reconstr Surg. 2016;137(4):1181-90.
PubMed PMID: 27018673
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet. 2017.
PubMed PMID: 28191891
Sander D, Schröder J, Schönbuchner I, Schreml J, Karrer S, Berneburg M, Schreml S Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq.
Case Rep Dermatol. 2016;8(1):19-21.
PubMed PMID: 26933410
Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C,Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge B, Esser KA, Ferlini A.
Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
J Cell Sci. 2016 Mar 4. pii: jcs.175927.[Epub ahead of print]
PubMedID: 26945058
Spier I, Kerick M, Drichel D, Horpaopan S, Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner, Thiele H, Nöthen MM, Hoffmann P, Timmermann B, Schweiger MR, Aretz S.
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Fam Cancer. 2016 Apr;15(2):281-8. doi: 10.1007/s10689-016-9870-z.
PubMedID: 26780541
Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P.
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Hum Genet. 2016 Feb;135(2):157-70. doi: 10.1007/s00439-015-1619-5. Epub 2015 Nov 30.
PubMedID: 26621532
Taylan C, Goebel H, Beck BB, Dötsch J, Nuesken KD, Hoppe B, Weber LT, Liebau MC. Quiz Page December 2016: Anuria on the Second Day Following Kidney Transplantation.
Am J Kidney Dis. 2016;68(6):A18-A21.
PubMed PMID: 27884282
Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Neurology. 2016 Oct 26. [Epub ahead of print]
PubMed PMID: 27784775
Volmering E, Niehusmann P, Peeva V, Grote A, Zsurka G, Altmüller J, Nürnberg P, Becker AJ, Schoch S, Elger CE, Kunz WS.
Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.
Acta Neuropathol. 2016 Mar 18. [Epub ahead of print]
PubMedID: 269913140
Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S.
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic
paraplegia.
J Hum Genet. 2016 Feb 18. doi: 10.1038/jhg.2016.6.[Epub ahead of print]
PubMedID: 26888483
Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B.
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Am J Med Genet A. 2016;170(3):728-33.
PubMedID: 26640080
Yis U, Baydan F, Karakaya M, Hız Kurul S, Cirak S.
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
Biomed Res Int. 2016.
PubMedID: 27123443
Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat. 2016;37(2):170-4.
PubMedID: 26593283
Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group.
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.
Neuromuscul Disord. 2015 Jul;25(7):593-602.
PubMedID:26045156
Giannopoulou EZ, Martin T, Wirth B, Yilmaz U, Gortner L, Meyer S.
Tongue fasciculations in an infant with spinal muscular atrophy type 1.
Clin Case Rep. 2015 Oct;3(10):832-4.
PubMedID: 26509018
Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur J Hum Genet. 2015 Feb;23(2):180-8.
PubMedID: 24801763
Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I.
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Neuromuscul Disord. 2015 Sep;25(9):713-8.
PubMedID: 26231298
Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nat Commun. 2015 Sep 14;6:8111.
PubMedID: 26368830
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun. 2015 Jun 5;6:7074.
PubMedID: 26044572
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium.
Whole-genome sequence-based analysis of thyroid function.
Nat Commun. 2015 Mar 6;6:5681.
PubMedID: 25743335
UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.
The UK10K project identifies rare variants in health and disease.
Nature. 2015 Oct 1;526(7571):82-90.
Rahe J, Becker J, Fink GR, Kessler J, Kukolja J, Rahn A, Rosen JB, Szabados F, Wirth B, Kalbe E.
Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.
Front Aging Neurosci. 2015;7(187).
PubMedID: 26528177
Martinez-Carrera L, Wirth B.
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Front Neurosci. 2015;9(401).
PubMedID: 23664116
Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ.
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Br J Ophthalmol. 2015 Dec;99(12):1725-31
PubMedID: 26294103
Bifari IN, Elkhamary SM, Bolz HJ, Khan AO.
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
Br J Ophthalmol. 2015.
PubMedID: 26359340
Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest. 2015;125(9):3585-99.
PubMedID: 26280580
Steckelberg AL, Altmueller J, Dieterich C, Gehring NH.
CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes.
Nucleic Acids Res. 2015;43(9):4687-700.
PubMedID: 25870412
Cheng J, Sedlazek F, Altmüller J, Nolte AW.
Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus).
Proc Biol Sci. 2015; 282(1815).
PubMedID: 26354934
Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Am J Hum Genet. 2015;97(4):546-54.
PubMedID: 26387594
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C Ludolph AC, Volk AE.
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiol Aging. 2015;36(11):3117.
PubMedID: 26362943
George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Pützer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmüller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castaños-Vélez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Köhler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansén S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nürnberg P, Reinhardt C, Perner S, Heukamp L, Büttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK.
Comprehensive genomic profiles of small cell lung cancer.
Nature. 2015;524(7563):47-53.
PubMedID: 26168399
Schramm A, Köster J, Assenov Y, Althoff K, Peifer M, Mahlow E, Odersky A, Beisser D, Ernst C, Henssen AG, Stephan H, Schröder C, Heukamp L, Engesser A, Kahlert Y, Theissen J, Hero B, Roels F, Altmüller J, Nürnberg P, Astrahantseff K, Gloeckner C, De Preter K, Plass C, Lee S, Lode HN, Henrich KO, Gartlgruber M, Speleman F, Schmezer P, Westermann F, Rahmann S, Fischer M, Eggert A, Schulte JH.
Mutational dynamics between primary and relapse neuroblastomas.
Nat Genet. 2015;47(8):872-7.
PubMedID: 26121086
Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S.
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Int J Cancer. 2015;137(2):320-31.
PubMedID: 25529843
Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G.
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Mol Cell Probes. 2015;29(5):330-4.
PubMedID: 26184463
Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I.
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Hum Genet. 2015l;134(7):691-704.
PubMedID: 25893793
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Hum Mol Genet. 2015;24(13):3708-17.
PubMedID: 25839420
König K, Peifer M, Fassunke J, Ihle MA, Künstlinger H, Heydt C, Stamm K, Ueckeroth F, Vollbrecht C, Bos M, Gardizi M, Scheffler M, Nogova L, Leenders F, Albus K, Meder L, Becker K, Florin A, Rommerscheidt-Fuss U, Altmüller J, Kloth M, Nürnberg P, Henkel T, Bikár SE, Sos ML, Geese WJ, Strauss L, Ko YD, Gerigk U, Odenthal M, Zander T, Wolf J, Merkelbach-Bruse S, Buettner R, Heukamp LC.
Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients.
J Thorac Oncol. 2015;10(7):1049-57.
PubMedID: 26102443
Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmüller J, Nürnberg P, Frank J, Betz RC.
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Am J Med Genet A. 2015;167(11):2555-62.
PubMedID: 26129644
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015;77(6):972-86.
PubMedID: 25726841
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet. 2015;24(9):2594-603.
PubMedID: 25616960
Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res. 2015;25(4):609.
PubMedID: 25616960
Basmanav FB, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC.
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
J Invest Dermatol. 2015;135(2):615-8.
PubMedID: 25229252
Fernandez-Cuesta L, Sun R, Menon R, George J, Lorenz S, Meza-Zepeda LA, Peifer M, Plenker D, Heuckmann JM, Leenders F, Zander T, Dahmen I, Koker M, Schöttle J, Ullrich RT, Altmüller J, Becker C, Nürnberg P, Seidel H, Böhm D, Göke F, Ansén S, Russell PA, Wright GM, Wainer Z, Solomon B, Petersen I, Clement JH, Sänger J, Brustugun OT, Helland Å, Solberg S, Lund-Iversen M, Buettner R, Wolf J, Brambilla E, Vingron M, Perner S, Haas SA, Thomas RK.
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.
Genome Biol. 2015;16:7.
PubMedID: 25650807
Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G.
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Hum Genet. 2015;134(1):45-51.
PubMedID: 25218063
Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L1, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra R, Davey MG, Bolz HJ TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Elife. 2015 Sep 19;4
PubMedID: 26386247
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2015.
PubMedID: 26489029
Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B.
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Clin Genet. 2015.
PubMedID: 26467156
Khan AO, BergmannC, Neuhaus C, Bolz HJ.
A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations.
Ophthalmic Genet. 2015;36(1):79-84.
PubMedID: 25475713
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet. 2015.:1;24(9):2594-603.
PubMedID: 25616960
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis ;A, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (dFNA67).
Orphanet J of Rare Diseases. 2015 Feb 10;10:15
PubMedID: 25759012
Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, Boduroglu K.
A novel mutation in RNU4ATAC in a patient with microcephalicosteodysplastic primordial dwarfism type I.
Am J Med Genet A. 2015:167A(4):919-21.
PubMedID: 25735804
Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet. 2015:134(6):553-68.
PubMedID: 25724810
Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C.
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of OsteogenesisImperfecta.
Am J Hum Genet. 2015:5;96(3):432-9.
PubMedID: 25683121
Beleggia F, Li Y, Fan J, Elcioğlu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B.
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
Hum Mol Genet. 2015 Apr 15;24(8):2267-73
PubMedID: 25561690
Zheng X, Reho JJ, Wirth B, Fisher SA.
TRA2β controls Mypt1 exon 24 splicing in the developmental maturation of mouse mesenteric artery smooth muscle.
Am J Physiol Cell Physiol. 2015 Feb 15;308(4):C289-96.
PubMedID: 25428883
Khan AO, Bifari IN, Bolz HJ.
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.
Ophthalmology. 2015; S0161-6420(15)00183-9.
PubMedID: 25864795
Heller R, Bolz HJ.
The challenge of defining pathogenicity: the example of AHI1.
Genet Med. 2015;17(6):508.
PubMedID: 26035799
Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, CharbelIssa P.
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Invest Ophthalmol Vis Sci. 2015;56(4):2664-76.
PubMedID: 25766588
Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, CharbelIssa P.
Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
Ophthalmology. 2015;122(8):1555-62.
PubMedID:26077580
Kaczmarek A, Schneider S, Wirth B, Riessland M.
Investigational therapies for the treatment of spinal muscular atrophy.
Expert OpinInvestig Drugs. 2015;24(7):867-81.
PubMedID: 25911060
Wirth B, Barkats M, Martinat C, Sendtner M, Gillingwater TH.
Moving towards treatments for spinal muscular atrophy: hopes and limits.
Expert OpinEmerg Drugs. 2015;28:1-4.
PubMedID: 25920617
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Hum Mol Genet. 2015;24(13):3708-17.
PubMedID: 25839420
Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, Bögershausen N, Uyguner ZO, Altunoglu U, Nürnberg, G, Nürnberg P, Rauch A, Li Y, Thiel CT, Wollnik B.
Mutations in CDK5RAP2 cause Seckel Syndrome.
Mol Gen Gen Med. 2015 Sep;3(5):467-80.
PubMedID: 26436113
Koenig JC, Rutsch F, Bockmeyer C, Baumgartner M, Beck BB, Kranz B, Konrad M.
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.
PediatrNephrol. 2015;30(7):1203-6.
PubMedID: 25894566
Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink Ten Cate FE.
Inhomogeneous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.
Echocardiography. 2015;32(8):1250-60.
PubMedID: 25441704
Beck B, Weber S.
Heutiger Stellenwert der Genetik in der Nephrologie. Beiträge und Perspektiven aus der pädiatrischen Nephrologie.
Hoyer-Kuhn H, Netzer C, Semler O.
Osteogenesis imperfecta: pathophysiology and treatment.
Wien MedWochenschr. 2015;165(13-14):278-84.
PubMedID: 26055811
Jobst-Schwan T, Pannes A, Schlingmann KP, Eckardt KU, Beck BB, Wiesener MS.
Discordant Clinical Course of Vitamin-D-Hydroylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Kidney Blood Press Res 2015;40:443-451
PubMedID: 26304832
Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ.
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Br J Ophthalmol. 2015:99(12):1725-31.
PubMedID: 26294103
Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li, Y, Katsanis N, Wollnik B.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest. 2015 Sep;125(9):3585-99
PubMed ID: 26280580
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group*, Hildebrandt F.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015;26(6):1279-89.
PubMedID: 25349199
Khan AO1, Bolz HJ
Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.
Ophthalmic Genet. 2015;36(4):349-52
PubMed PMID: 24547909
Khan AO, Bergmann C, Eisenberger T, Bolz HJ.
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Br J Ophthalmol. 2015 Apr;99(4):488-92
PubMed PMID: 25342276
Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur J Hum Genet. 2015 Feb;23(2):180-8
PubMed PMID: 24801763
Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink Ten Cate FE.
Inhomogenous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.
Echocardiography. 2015 Aug;32(8):1250-60
PubMed PMID: 25441704
Anjum S, Azhar A, Tariq M, Baig SM, Bolz HJ, Qayyum M, Navi SMS, Raja GK.
GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families.
Pak J Soc. Sci. 2015 Aug;52(8):548-52
Arjona FJ, de Baaij, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG. CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
PloS Genet 2014 Apr 3;10(4):e1004267
PubMed PMID: 24699222
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Hum Mutat. 2014 Jan;35(1):76-85.
PubMed PMID: 24123394
Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ.
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Eur J Hum Genet. 2014 Feb;22(2):286-8
PubMed PMID: 23838597
Roberts JM, Ennajdaoui H, Edmondson C, Wirth B, Sanford JR, Chen B.
Splicing factor TRA2B is required for neural progenitor survival.
J Comp Neurol. 2014 Feb;522(2):372-92. doi: 10.1002/cne.23405.
PubMed PMID: 23818142
Lohkamp LN, Au Kv, Goebel HH, Kress W, Grieben U, Drossel K, Garbes L, Wirth B, Heppner FL, Stenzel W.
A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene.
J Child Neurol. 2014 Feb;29(2):254-9.
PubMed PMID: 24334346
Synofzik M, Martinez-Carrera LA, Lindig T, Schöls L, Wirth B.
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
J Neurol Neurosurg Psychiatry. 2014 May;85(5):590-2
PubMed PMID: 24336790
Komlósi K, Hadzsiev K, Garbes L, Martínez Carrera LA, Pál E, Sigurðsson JH, Magnusson O, Melegh B, Wirth B.
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
Neuromuscul Disord. 2014 Feb;24(2):156-61. doi: 10.1016/j.nmd.2013.10.010. Epub 2013 Nov 11.
PubMed PMID: 24300783
Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B.
Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice.
Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77
PubMed PMID: 24385516
Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F.
The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27.
PubMed PMID: 23982343
Kye MJ, Gonçalves ID.
The role of miRNA in motor neuron disease.
Front Cell Neurosci. 2014 Jan 30;8:15. eCollection 2014.
PubMed PMID: 24523674
Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ.
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
Orphanet J Rare Dis. 2014 Jan 23;9(1):12. doi: 10.1186/1750-1172-9-12.
PubMed PMID: 24456803
Markus Storbeck, Kristina Hupperich, John Antonydas Gaspar, Kesavan Meganathan, Lilian Martínez Carrera, Radu Wirth, Agapios Sachinidis, Brunhilde Wirth
Neuronal-Specific Deficiency of the Splicing Factor Tra2b Causes Apoptosis in Neurogenic Areas of the Developing Mouse Brain
PLOS ONE, 2014 Feb 19;9(2):e89020.
PubMed PMID: 24586484
Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol. 2014 Aug;29(8):1451-6
PubMed PMID:24504730
Wishart TM, Mutsaers CA, Riessland M, Reimer MM, Hunter G, Hannam ML, Eaton SL, Fuller HR, Roche SL, Somers E, Morse R, Young PJ, Lamont DJ, Hammerschmidt M, Joshi A, Hohenstein P, Morris GE, Parson SH, Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH.
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
J Clin Invest. 2014 Apr 1;124(4):1821-34. doi: 10.1172/JCI71318. Epub 2014 Mar 3.
PubMed PMID: 24590288
Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.
Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin.
Kidney Int. 2014 Sep;86(3):589-99
PubMed PMID: 24670410
Khan AO, Bolz HJ, Bergmann C.
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
J AAPOS. 2014;18(2):203-5.
PubMedPMID: 24698627
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Br J Ophthalmol. 2014 Dec;98(12):1724-8
PubMed PMID: 24997176
Khan AO, Nagl S, Bergmann C, Bolz HJ.
Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").
J Pediatr Ophthalmol Strabismus. 2014 Jul 16;51 Online:e51-4
PubMed PMID: 25032695
Khan AO, Bolz HJ, Bergmann C.
Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.
J AAPOS. 2014;18(2):134-9.
PubMed PMID: 24698609
Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Hum Mutat. 2014;35(5):565-70.
PubMed PMID: 24616153
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy.
Hum Mutat. 2014;35(10):1153-62.
PubMed PMID: 25044745
Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G.
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Kidney Int. 2014 Dec;86(6):1197-204
PubMed PMID: 24988064
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG.
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
PLoS Genet. 2014
PubMed PMID: 24699222
Kye MJ, Niederst ED, Wertz MH, Gonçalves ID, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M.
SMN regulates axonal local translation via miR-183/mTOR pathway.
Hum Mol Genet. 2014 Dec 1;23(23):6318-31
PubMed PMID: 25055867
Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O.
Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI.
Orphanet J Rare Dis. 2014;26;9(1):145
PubMed PMID: 25257953
Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C.
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
J Bone Miner Res. 2014;29(6):1387-91.
PubMed PMID: 24293101
Linder B, Hirmer A, Gal A, Rüther K, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 Tri-snRNP integration and is associated with retinitis pigmentosa.
PLoS One. 2014 Nov 10; 9(11).
PubMed PMID: 25383878
Powis RA, Mutsaers CA, Wishart TM, Hunter G, Wirth B, Gillingwater TH.
Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target.
Neuropathol Appl Neurobiol. 2014 Dec;40(7):873-87. doi: 10.1111/nan.12168.
PubMed PMID: 25041530
Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nat Genet. 2014 Dec;46(12):1283-92. doi: 10.1038/ng.3122. Epub 2014 Oct 26.
PubMed PMID: 25344692
Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J1, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.
Mutations in CKAPL2, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome.
Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.
PubMed PMID: 25439729
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Hum Mol Genet. 2014 Aug 15;23(16):4396-405.
PubMedID: 23131014
Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators. (Wollnik)
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75.
PubMedID: 25168959
Krones T, Koerner U, Schmitz D, et al. (Netzer)
Is the prohibition of prenatal diagnosis of late-onset diseases in the German Genetic Diagnosis Act medically, legally and ethically justified?
Eth. Med. 2014:26(1):33-46.
Roberts JM, Ennajdaoui H, Edmondson C, Wirth B, Sanford J, Chen B.
Splicing factor TRA2B is required for neural progenitor survival.
J Comp Neurol. 2014 Feb 1;522(2):372-92. doi: 10.1002/cne.23405.
PubMed PMID: 23818142
Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ.
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10.
PubMed PMID: 23838597
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
PubMed PMID: 24123394
Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM.
Extended mutation spectrum of Usher syndrome in Finland.
Acta Ophthalmol. 2013 Jun;91(4):325-34. doi: 10.1111/j.1755-3768.2012.02397.x. Epub 2012 Jun 8.
PubMed PMID: 22681893
Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B.
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Hum Mol Genet. 2013 Jan 15;22(2):398-407. doi: 10.1093/hmg/dds437. Epub 2012 Oct 16.
PubMed PMID: 23077215
Schreml J, Riessland M, Paterno M, Garbes L, Roßbach K, Ackermann B, Krämer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B.
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Eur J Hum Genet. 2013 Jun;21(6):643-52. doi: 10.1038/ejhg.2012.222. Epub 2012 Oct 17.
PubMed PMID: 23073311
Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B.
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
Hum Mol Genet. 2013 Apr 1;22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20.
PubMed PMID: 23263861
Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11.
PubMed PMID: 22781098
Bögershausen N, Bruford E, Wollnik B.
Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
Clin Genet. 2013 Mar;83(3):212-4. doi: 10.1111/cge.12050. Epub 2012 Nov 27.
PubMed PMID: 23130995
Bögershausen N, Wollnik B.
Unmasking Kabuki syndrome.
Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26.
PubMed PMID: 23131014
Beck BB, Hoyer-Kuhn H, Göbel H, Habbig S, Hoppe B.
Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.
Expert Opin Investig Drugs. 2013 Jan;22(1):117-29. doi: 10.1517/13543784.2013.741587. Epub 2012 Nov 21.
PubMed PMID: 23167815
Bartsch DK, Bohlander SK, Dralle H, Fendrich V, Grimm O, Höppner W, Langer P, Netzer C, Lopez CL, Machens A.
Multiple endokrine Neoplasien
Rothmund M: Endokrine Chirurgie, 3. Auflage 2013; 629 ff.
Springer
Krones T, Körner U, Schmitz D, Henn W, Wewetzer C, Kreß H, Netzer C, Thorn P, Bockenheimer-Lucius G.
Das Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im deutschen Gendiagnostikgesetz – eine Diskussion medizinischer und rechtlicher Aspekte und deren Implikation für die medizinische Diskussion
Ethik Med. 2013
Springer
Dimitriadi M, Kye MJ, Kalloo G, Yersak JM, Sahin M, Hart AC.
The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models.
J Neurosci. 2013 Apr 10;33(15):6557-62. doi: 10.1523/JNEUROSCI.1536-12.2013.
PubMed PMID: 23575853
Garbes L, Riessland M, Wirth B.
Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
Curr Pharm Des. 2013;19(28):5093-104.
PubMed PMID: 23448465
Wirth B, Garbes L, Riessland M.
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.
Curr Opin Genet Dev. 2013 Jun;23(3):330-8. doi: 10.1016/j.gde.2013.03.003. Epub 2013 Apr 17.
PubMed PMID: 23602330
Somers E, Riessland M, Schreml J, Wirth B, Gillingwater TH, Parson SH.
Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy.
Neurosci Lett. 2013 Jun 7;544:100-4. doi: 10.1016/j.neulet.2013.03.052. Epub 2013 Apr 10.
PubMed PMID: 23583590
Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJM, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy.
Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.
PubMed PMID: 23664116
Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW.
A De Novo GLI3 Mutation in a Patient With Acrocallosal Syndrome.
Am J Med Genet A. 2013 Jun;161(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30.
PubMed PMID: 23633388
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS.
The RPGRIP1-related retinal phenotype in children.
Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16.
PubMed PMID: 23505306
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14.
PubMed PMID: 23418306
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M; UK10K, Bolz HJ,Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease.
Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.
PubMed PMID: 23418020
Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, Viazzo-Trussell D, Wood J, Roman CA, Hecker E, Meffert M, Léveillé M, Kienitz K, Swoboda KJ; Project Cure SMA Investigators Network. Collaborators: Swoboda KJ, Acsadi G, Crawford T, D'Anjou G, Elsheik B, Kissel JT, Kishnani P, Krosschell KJ, LaSalle B, Reyna SP, Schroth MK, Scott C, Simard LR, Smith EC, Wirth B, von Kleist-Retzow JC.
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
Pediatr Phys Ther. 2013 Summer;25(2):140-8; discussion 149. doi: 10.1097/PEP.0b013e31828a205f.
PubMed PMID: 23542189
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J,Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G.
PLS3 mutations in X-linked osteoporosis with fractures.
N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.
PubMed PMID: 24088043
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23.
PubMed PMID: 23793029
Galvez-Ruiz A, Neuhaus C, Bergmann C, Bolz H.
First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations.
J Neuroophthalmol. 2013 Dec;33(4):349-53. doi: 10.1097/WNO.0b013e31829ffb9a.
PubMed PMID: 24051421
Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B.
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14.
PubMed PMID: 23499309
Reintjes N, Li Y, Becker A, Rohmann E, Schmutzler R, Wollnik B.
Activating somatic FGFR2 mutations in breast cancer.
PLoS One. 2013;8(3):e60264. doi: 10.1371/journal.pone.0060264. Epub 2013 Mar 20.
PubMed PMID: 23527311
Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D.
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.
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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
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A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.
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A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation
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Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
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VPA response in SMA is suppressed by the fatty acid translocase CD36.
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Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
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A large duplication involving the IHH locus mimics acrocallosal syndrome.
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A Mutation in the 5'-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus.
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Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations.
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Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing.
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A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
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Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16
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Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
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The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
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A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
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Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary Uromodulin expression
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Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
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Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
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A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
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Low proliferation and differentiation capacities of adult hippocampal stem cells correlate with memory dysfunction in humans
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Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
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Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
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Slow progression of a small Wilms' tumor
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Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
J Clin Invest. 2010 Jun 1;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.
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First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis
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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
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Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
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A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features
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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
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A common mechanism for microcephaly
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Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
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A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
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Survival Motor Neuron Gene 2 Silencing by DNA Methylation Correlates with Spinal Muscular Atrophy Disease Severity and can be Bypassed by Histone Deacetylase Inhibition
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An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
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A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats
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GPR98 mutations cause Usher syndrome type 2 in males
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A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
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Extended genetic analysis of BTNL2 in sarcoidosis
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New challenges for informed consent through whole genome array testing
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Chromosomal microdeletions: minor imbalances with major consequences
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Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister
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An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis
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The x(c)(-) cystine/glutamate antiporter (xCT) as a potential target for therapy of cancer: yet another cytotoxic anticancer approach?
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LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
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Cellular characterization of the peritumoral edema zone in malignant brain tumors
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PubMed PMID: 19681905
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U
Mutations in PYCR1 cause cutis laxa with progeroid features
Nat Genet. 2009;41(9):1016-21
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Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C
ATP13A2 variants in early-onset Parkinson's disease patients and controls
Mov Disord. 2009;24(14):2104-11
PubMed PMID: 19705361
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
Hum Mutat. 2009;30(12):1667-75
PubMed PMID: 19810119
Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA
ALX4 dysfunction disrupts craniofacial and epidermal development
Hum Mol Genet. 2009;18(22):4357-66
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Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
Clin Genet. 2009;76(2):168-78
PubMed PMID: 19780763
Karsak M, Malkin I, Toliat MR, Kubisch C, Nürnberg P, Zimmer A, Livshits G
The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample
Hum Genet. 2009;126(5):629-36
PubMed PMID: 19565271
Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
Eur J Med Genet. 2009;52(4):180-4
PubMed PMID: 19332161
Krones T, Schmitz D, Heen W, Netzer C
Das neue Gendiagnostikgesetz. Implikationen für die Beratung von Schwangeren zur vorgeburtlichen Diagnostik
Ethik Med. 2009; 21: 333-40
Abstract , Full Text (PDF)
Schmitz D, Henn W, Netzer C
Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing
BMJ. 2009;339:b2690
PubMed PMID: 19581325
Siebzehnrubl FA, Jeske I, Müller D, Buslei R, Coras R, Hahnen E, Huttner HB, Corbeil D, Kaesbauer J, Appl T, von Hörsten S, Blümcke I
Spontaneous in vitro transformation of adult neural precursors into stem-like cancer cells
Brain Pathol. 2009;19(3):399-408
PubMed PMID: 18637011
Bchetnia M, Charfeddine C, Kassar S, Hanchi I, Tounsi-Guettiti H, Rebai A, Osman AD, Kubisch C, Abdelhak S, Boubaker S, Mokni M
Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families
J Dermatol Sci. 2009;54(1): 54-6
PubMed PMID: 19136236
Elçioglu NH, Pawlik B, Colak B, Beck M, Wollnik B
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D
Genet Couns. 2009;20(2):133-9
PubMed PMID: 19650410