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2019

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

 

2018

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

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

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

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

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

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

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

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

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

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

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

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

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

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. 
Am Soc Nephrol. 2018

PubMed PMID: 30049680

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

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

Beck BB.
“Old friends, new friends” – Neues zu ATKD-MUC1.

Nephrol. 2018;13:43-44.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
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.
Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.

PubMed PMID: 29555955

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

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

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

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

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

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 Feb 13. doi: 10.1002/pmic.201700456.

PubMed PMID: 29436780

Bolz HJ.
[Despite Challenges and Pitfalls: How Ophthalmology 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. German.

PubMed PMID: 29390234

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

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

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

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

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

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

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

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

 

2017

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;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

PubMed PMID: 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. 2017. 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, 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 PEX26 mutated in Heimler syndrome.
Mol Genet Genomic Med. 2017;5(5):531-552.

PubMed PMID: 28944237

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

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, Altmüller J, 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.

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.

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

2016

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

2015

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.

PubMedID:26367797

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

PubMedID: 25941349

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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
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.

 

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.

 

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

 

2013

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.
PubMed PMID: 23568615

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.
PubMed PMID: 23830518

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PO, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkynay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.
PubMed PMID: 23906836

Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA.
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4.
PubMed PMID: 23918663

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.
PubMed PMID: 24035636

Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D.
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
J Med Genet. 2013 Dec;50(12):838-47. doi: 10.1136/jmedgenet-2013-101918. Epub 2013 Oct 3.
PubMed PMID: 24092917

Lagies R, Beck BB, Hoppe B, Sreeram N, Ten Cate FE.
Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1.
Circ Heart Fail. 2013 Jul;6(4):e45-7. doi: 10.1161/CIRCHEARTFAILURE.113.000432.
PubMed PMID: 23861508

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
J Clin Invest. 2013 Aug 1;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8.
PubMed PMID: 23867502

Jacob DE, Grohe B, Geßner M, Beck BB, Hoppe B.
Kidney stones in primary hyperoxaluria: new lessons learnt.
PLoS One. 2013 Aug 5;8(8):e70617. doi: 10.1371/journal.pone.0070617. Print 2013.
PubMed PMID: 23940605

Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB.
A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.
PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414.
PubMed PMID: 24124559

Samantha Schrier Vergano MD, Gijs Santen MD PhD, Dagmar Wieczorek MD, Bernd Wollnik MD, Naomichi Matsumoto MD PhD, and Matthew A Deardorff MD PhD.
GeneReviews: Coffin-Siris Syndrome
GeneReviewsTM [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2013 Apr 04 [updated 2013 Jul 11].
PubMed PMID: 23556151
Review: Full Text

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Am J Med Genet A. 2013;161(9): 2158-66.

PubMed PMID: 23913520

Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RC, Wollnik B.
Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
Am J Med Genet A. 2013;161A(6): 1475-9.

PubMed PMID: 23636941

Volk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D.
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation
Audiol Neurootol. 2013;18(3): 192-199

PubMed PMID: 23635807

Schnurbein G, Hauke J, Wappenschmidt B, Weber-Lassalle N, Engert S, Hellebrand H, Garbes L, Becker A, Neidhardt G, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
Breast Cancer Res. 2013;15(6): R120.

PubMed PMID: 24359560

Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M.
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.
Eur J Med Genet. 2013;56(8): 458-62.

PubMed PMID: 23811035

Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar M, Onay MP, Yigit G, Özkinay F, Wollnik B.
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
Hum Genet. 2013;132(11): 1311-20.

PubMed PMID: 23851939

Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar M, Yigit G, Ozkinay F, Wollnik B.
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
Hum Genet. 2013;132(11): 1321-1321.

PubMed PMID: 23851939

Beck BB, Wollnik B, Komhoff M.
Ion channelopathies of the kidney and adrenal gland.

Med Genet. 2013;25(4): 480-485.

Rachwalski M, Wollnik B, Kress W.
Clinical course and genetics of syndromic and non-syndromic craniosynostosis.

Med Genet. 2013;25(3): 373-385.

Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS ONE. 2013;8(11): e78496.

PubMed PMID: 24265693

Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcioğlu N, Rachwalski M, Kamaci S, Tunçbilek G, Akin B, Grötzinger J, Konas E, Mavili E, Müller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B.
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.
Mol Genet Genomic Med. 2013;1(4):223-37

PubMed PMID: 24498618

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
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
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

2012

Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF.
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
PubMed PMID: 22009552

Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, Höcker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dötsch J, Müller-Wiefel DE, Hoyer P; and Members of the Gesellschaft für Pädiatrische Nephrologie (GPN), Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Müller GA, Weber M.
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
Kidney Int. 2012 Mar;81(5):494-501. doi: 10.1038/ki.2011.407. Epub 2011 Dec 14.
PubMed PMID: 22166847

Rathnamalala NK, Lanerolle RD, Hoppe B, Beck B.
Primary hyperoxaluria presenting with early renal allograft dysfunction.
Nephrology (Carlton). 2012 May;17(4):431. doi: 10.1111/j.1440-1797.2011.01534.x.
PubMed PMID: 22509767

Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B.
Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?
Nephrol Dial Transplant. 2012 Jul;27(7):2984-9. Epub 2012 Jan 28.
PubMed PMID: 22287658

Hueppelshaeuser R, von Unruh GE, Habbig S, Beck BB, Buderus S, Hesse A, Hoppe B.
Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn's disease.
Pediatr Nephrol. 2012 Jul;27(7):1103-9. Epub 2012 Feb 25.
PubMed PMID: 22366809

Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B.
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11.
PubMed PMID: 22234151

Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S.
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
Blood Coagul Fibrinolysis. 2012 Jun;23(4):335-7.
PubMed PMID: 22343686

Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmüller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schönau E, Wirth R, Hammerschmidt M, Nürnberg P, Wollnik B, Carney TJ.
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Am J Hum Genet. 2012 Apr 6;90(4):661-74.
PubMed PMID: 22482805

Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C.
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.
Am J Hum Genet. 2012 Aug 10;91(2):349-57. Epub 2012 Aug 2.
PubMed PMID: 22863195

Samia Temtamy, Mona Aglan, A. Kemal Topaloglu, Bernd Wollnik, Khalda Amr, Tarek H El-Badry, Gamal A Hosny, Nermine Salah Eldin, Mohammad Shboul, Mustafa Herdem, Junxian Ong, Bruno Reversade, Jingh Tian.
Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations.
Middle East Journal of Medical Genetics: July 2012 - Volume 1 - Issue 2 - p 64–70 doi: 10.1097/01.MXE.0000414918.78299.94.
[Middle East Journal of Medical Genetics]

Semler O, Netzer C, Hoyer-Kuhn H, Becker J, Eysel P, Schoenau E.
First use of the RANKL antibody denosumab in Osteogenesis Imperfecta Type VI.
J Musculoskelet Neuronal Interact. 2012 Sep;12(3):183-8.
PubMed PMID: 22947550

Netzer C, Schmitz D, Henn W.
To know or not to know the genomic sequence of a fetus.
Nat Rev Genet. 2012 Oct;13(10):676-7. doi: 10.1038/nrg3333. Epub 2012 Sep 4.
PubMed PMID: 22945393

Busch J, Frank V, Bachmann N, Otsuka A, Oji V, Metze D, Shah K, Danda S, Watzer B, Traupe H, Bolz HJ, Kabashima K, Bergmann C.
Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing.
J Invest Dermatol. 2012 Oct;132(10):2473-6. doi: 10.1038/jid.2012.146. Epub 2012 Jun 14.
PubMed PMID: 22696055

Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59.
PubMed PMID: 22938382

Hinkes B, Hilgers KF, Bolz HJ, Goppelt-Struebe M, Amann K, Nagl S, Bergmann C, Rascher W, Eckardt KU, Jacobi J.
A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
BMC Nephrol. 2012 May 14;13:27.
PubMed PMID: 22583611

Mahfouz RA, Bolz HJ, Otrock ZK, Bergmann C, Muwakkit S.
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
Blood Coagul Fibrinolysis. 2012 Jun;23(4):335-7.
PubMed PMID: 22343686

Fu K, Mende Y, Bhetwal BP, Baker S, Perrino BA, Wirth B, Fisher SA.
Tra2β protein is required for tissue-specific splicing of a smooth muscle myosin phosphatase targeting subunit alternative exon.
J Biol Chem. 2012 May 11;287(20):16575-85. Epub 2012 Mar 21.
PubMed PMID: 22437831

von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18.
PubMed PMID: 23084290

Wollnik B, Kornak U.
Progeroide Erkrankungen und ihre Mechanismen.
Medgen. 2012; 24: 253-6.

Yigit G, Wollnik B.
Molekulare Mechanismen des Seckel- Syndroms
Medgen. 2012; 24: 284-8.
Semler O, Hoyer-Kuhn H, Netzer C.
Osteogenesis imperfecta
Medgen. 2012; 24:297-311
Semler O, Netzer C, Hoyer-Kuhn H, Schönau E.
Osteogenesis Imperfekta. Genetische Grundlagen und medikamentöse Behandlungsmöglichkeiten.
Päd Prax. 2012;79:81-90

Cogulu O, Durmaz B, Wollnik B, Durmaz A, Darcan S, Ozkinay F.
A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies.
Genet Couns. 2012;23(2):281-7.
PubMed PMID: 22876588

2011

Linder B, Dill H, Hirmer A, Brocher J, Lee GP, Mathavan S, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.
Hum Mol Genet. 2011 Jan 15;20(2):368-77. Epub 2010 Nov 3.
PubMed PMID: 21051334

Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B.
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Nat Genet. 2011 Jan;43(1):23-6. Epub 2010 Dec 5.
PubMed PMID: 21131973

Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
Hum Genet. 2011 Jan;129(1):45-50. Epub 2010 Oct 22.
PubMed PMID: 20967465

Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ.
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
Nat Neurosci. 2011 Jan;14(1):77-84. Epub 2010 Dec 5.
PubMed PMID: 21131953

Savaskan NE, Seufert S, Hauke J, Tränkle C, Eyüpoglu IY, Hahnen E
Dissection of mitogenic and neurodegenerative actions of cystine and glutamate in malignant gliomas
Oncogene. 2011 Jan 6;30(1):43-53. Epub 2010 Aug 30.
PubMed PMID: 20802520

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Am J Hum Genet. 2011 Feb 11;88(2):127-37. Epub 2011 Jan 20.
PubMed PMID: 21255762

Frenzel LP, Claus R, Plume N, Schwamb J, Konermann C, Pallasch CP, Claasen J, Brinker R, Wollnik B, Plass C, Wendtner CM
Sustained NF-kappa B activity in chronic lymphocytic leukemia (CLL) is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus
Int J Cancer. 2011 May 15;128(10):2495-500. doi: 10.1002/ijc.25579.
PubMed PMID: 20669229

Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO.
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Am J Med Genet A. 2011 Jan;155A(1):180-5.
PubMed PMID: 21204229

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet. 2011, 88:362-71.
PubMed PMID: 21353196

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
A mutation screen in patients with Kabuki syndrome.
Hum Genet. 2011 Dec;130(6):715-24. Epub 2011 May 24.
PubMed PMID: 21607748

Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Am J Hum Genet. 2011 Mar 11;88(3):382-90.
PubMed PMID: 21397065

Sankaran VG, Menne J, Heller R.
Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin.
Blood. 2011 Apr 21;117(16):4396-7
PubMed PMID: 21511965

Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Am J Med Genet A. 2011 Apr;155(4):706-16
PubMed PMID: 21438134

Hoffmann K, Heller R.
Uniparental disomies 7 and 14.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100
PubMed PMID: 21396576

Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ.
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
J Clin Invest. 2011;121(7):2662-7.
PubMed PMID: 21633164

Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O.
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16
PubMed PMID: 21407258

Mehler K, Beck BB, Kaul I, Rahimi G, Hoppe B, Kribs A.
Respiratory and general outcome in neonates with renal oligohydramnios--a single-centre experience.
Nephrol Dial Transplant. 2011 Nov;26(11):3514-22. Epub 2011 Mar 9
PubMed PMID: 21389070

Hoppe B, Dittlich K, Fehrenbach H, Plum G, Beck BB.
Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis.
Am J Kidney Dis. 2011 Sep;58(3):453-5. Epub 2011 Jun 25.
PubMed PMID: 21705122

Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT.
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
Am J Kidney Dis. 2011;58(5):821-5.
PubMed PMID: 21903317

Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH.
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
Hum Mol Genet. 2011;20(22):4334-44.
PubMed PMID: 21840928

Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM.
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12.
PubMed PMID: 21542062

Bolz HJ, Roux AF.
Clinical utility gene card for: Usher syndrome.
Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.15. Epub 2011 Mar 9.
PubMed PMID: 21697857

Ugolino J, Fang S, Kubisch C, Monteiro MJ.
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
Hum Mol Genet. 2011 Sep 15;20(18):3565-77. Epub 2011 Jun 10.
PubMed PMID: 21665991

Volk AE, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant AW, Ivo R, Eysel P, Kubisch C, Neugebauer A.
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
Mol Vis. 2011;17:1978-86. Epub 2011 Jul 20.
PubMed PMID: 21850172

Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP.
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Am J Hum Genet. 2011;89(5):595-606.
PubMed PMID: 22019272

Hofmann K, Becker J, Heller R, Boute O, Andrieux J, Hoyer J, Ekici AB, Reis A,  Rauch A.
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
Eur J Med Genet. 2011 Sep-Oct;54(5):e495-500. doi: 10.1016/j.ejmg.2011.06.002. Epub 2011 Jun 21.
PubMed PMID: 21722758

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes MKubisch C, Ahmad J, Bolz HJ.
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16.
PubMed PMID: 21850168

Habbig S, Beck BB, Hoppe B.
Nephrocalcinosis and urolithiasis in children.
Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28.
PubMed PMID: 21956187

Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P.
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
Hum Mol Genet. 2011 Dec 15;20(24):4865-78. Epub 2011 Sep 14.
PubMed PMID: 21920940

Grellscheid S, Dalgliesh C, Storbeck M, Best A, Liu Y, Jakubik M, Mende Y, Ehrmann I, Curk T, Rossbach K, Bourgeois CF, Stévenin J, Grellscheid D, Jackson MS, Wirth B, Elliott DJ.
Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development.
PLoS Genet. 2011 Dec;7(12):e1002390. doi: 10.1371/journal.pgen.1002390. Epub 2011 Dec 15.
PubMed PMID: 22194695

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am J Hum Genet. 2011;89(6):713-30.
PubMed PMID: 22152675

Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A.
Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.
Am J Med Genet A. 2011 Dec;155A(12):3075-81. doi: 10.1002/ajmg.a.34300. Epub 2011 Nov 3.
PubMed PMID: 22052712

Schorn R, Beck BB, Cohen CD, Wütherich RP, Mohebbi N.
Rezidivierende Urolithiasis mit progredienter Niereninsuffiziens.
Der Nephrologe. 2011/3; 6:270-3.
Abstract SpringerMedizin

 

2010

Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B
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
Hum Mutat. 2010;31(1):81-9
PubMed PMID: 19847792

Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
Mol Syndromol. 2010 Feb;1(1):27-34. Epub 2010 Jan 15.
PubMed PMID: 20648243

Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blümcke I, Hahnen E, Wirth B
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
Hum Mol Genet. 2010 Apr 15;19(8):1492-506. Epub 2010 Jan 22
PubMed PMID: 20097677

Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, Robert F, Giraudon-Paoli M, Riessland M, Mattei MG, Andriambeloson E, Wirth B, Sendtner M, Gallego J, Pruss RM, Bordet T
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
Neurobiol Dis. 2010;38(1):125-135
PubMed PMID: 20085811

Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary Uromodulin expression
Hum Mol Genet. 2010 May 15;19(10):1985-97. Epub 2010 Feb 18
PubMed PMID: 20172860

Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
Am J Hum Genet. 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18.
PubMed PMID: 20170898

Mende Y, Jakubik M, Riessland M, Schoenen F, Roßbach K, Kleinridders A, Köhler C, Buch T, Wirth B
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing
Hum Mol Genet. 2010 Jun 1;19(11):2154-67. Epub 2010 Feb 27
PubMed PMID: 20190275

Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
Hum Mol Genet. 2010 May 15;19(10):2005-14. Epub 2010 Feb 23
PubMed PMID: 20179078

Striessnig J, Bolz HJ, Koschak A
Channelopathies in Ca(v)1.1, Ca (v)1.3, and Ca (v)1.4 voltage-gated L-type Ca (2+) channels
Pflugers Arch. 2010 Jul;460(2):361-74. Epub 2010 Mar 7
PubMed PMID: 20213496

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin
Mol Vis. 2010 Mar 23;16:495-500
PubMed PMID: 20352026

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ,       Friderici KH
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
Clin Genet. 2010 Sep;78(3):267-74. Epub 2010 Mar 1.
PubMed PMID: 20236118

Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A.
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
Mov Disord. 2010 Sep 15;25(12):1929-37
PubMed PMID: 20683840

Coras R, Siebzehnrubl FA, Pauli E, Huttner HB, Njunting M, Kobow K, Villmann C, Hahnen E, Neuhuber W, Weigel D, Buchfelder M, Stefan H, Beck H, Steindler DA, Blümcke I
Low proliferation and differentiation capacities of adult hippocampal stem cells correlate with memory dysfunction in humans
Brain. 2010 Nov;133(11):3359-72. Epub 2010 Aug 18
PubMed PMID: 20719879

Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A; International Headache Genetics Consortium
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
Nat Genet. 2010 Oct;42(10):869-73. Epub 2010 Aug 29
PubMed PMID: 20802479

Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
Am J Med Genet A. 2010 Aug;152A(8):2090-3
PubMed PMID: 20635400

Simon T, Feldkötter M, Buiting K, Ortmann M, Bolz H, Körber F
Slow progression of a small Wilms' tumor
Klin Padiatr. 2010 May;222(3):190-1. Epub 2010 May 31.
PubMed PMID: 20514626

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.
PubMed PMID: 20440071

Volk AE, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders
Graefes Arch Clin Exp Ophthalmol. 2010 Sep;248(9):1351-7. Epub 2010 Jun 10.
PubMed PMID: 20535495

Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome
PLoS One. 2010 Apr 29;5(4):e10418.
PubMed PMID: 20454682

Li Y, Pabst S, Kubisch C, Grohé C, Wollnik B
First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis
Thorax. 2010 Oct;65(10):939-40. Epub 2010 Aug 30
PubMed PMID: 20805159

Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
Am J Hum Genet. 2010 May 14;86(5):696-706. Epub 2010 Apr 8.
PubMed PMID: 20381006

Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
Am J Hum Genet. 2010 May 14;86(5):789-96. Epub 2010 May 6.
PubMed PMID: 20451171

Saha B, Lessel D, Hisama FM, Leistritz DF, Friedrich K, Martin GM, Kubisch C, Oshima J
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features
Mol Syndromol. 2010 Sep;1(3):127-132. Epub 2010 Sep 14
PubMed PMID: 21031082

Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
Hum Genet. 2010 Jul;128(1):103-11. Epub 2010 May 5.
PubMed PMID: 20443122

Wollnik B
A common mechanism for microcephaly
Nat Genet. 2010 Nov;42(11):923-4
PubMed PMID: 20980985

Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome
PLoS One. 2010 Apr 29;5(4):e10418
PubMed PMID: 20454682

Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B.
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Am J Hum Genet. 2010;87(6):757-67.
PubMed PMID: 21129728

Schild AM, Fricke J, Herkenrath P, Bolz H, Neugebauer A.
Neuro-ophthalmological and ophthalmological findings in Joubert syndrome.
Klin Monbl Augenheilkd. 2010 Oct;227(10):786-91.
PubMed PMID: 20963681

 

2009

Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
Arch Dermatol Res. 2009;301(5):391-3
PubMed PMID: 18820939

Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E
Survival Motor Neuron Gene 2 Silencing by DNA Methylation Correlates with Spinal Muscular Atrophy Disease Severity and can be Bypassed by Histone Deacetylase Inhibition
Hum Mol Genet. 2009;18(2):304-17
PubMed PMID: 18971205

Kobow K, Jeske I, Hildebrandt M, Hauke J, Hahnen E, Buslei R, Buchfelder M, Weigel D, Stefan H, Kasper B, Pauli E, Blümcke I
Increased Reelin promoter methylation in temporal lobe epilepsy
J Neuropathol Exp Neurol. 2009;68(4):356-64
PubMed PMID: 19287316

Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ
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
Eur J Hum Genet. 2009;17(1):80-4
PubMed PMID: 18665195

Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C
New genetic evidence for involvement of the dopamine system in migraine with aura
Hum Genet. 2009 Apr;125(3):265-79
PubMed PMID: 19152006

Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Todt U, Göbel H, Kaprio J, Kubisch C, Färkkilä M, Palotie A, Wessman M, Kallela M
Genetic association study of Endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura
Cephalalgia. 2009;29:1224-31
PubMed PMID: 19558538

Kuhn J, Brümmendorf TH, Brassat U, Lehnhardt FG, Chung BD, Harnier S, Bewermeyer H, Harzheim A, Assheuer J, Netzer C
Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations
Eur Neurol. 2009;61(3):154-8
PubMed PMID: 19092252

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C
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
Hum Mutat. 2009;30(4):641-8
PubMed PMID: 19177549

Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene
Br J Ophthalmol. 2009;93(7):920-5
PubMed PMID: 19403518

Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ
GPR98 mutations cause Usher syndrome type 2 in males
J Med Genet. 2009;46(4):277-80
PubMed PMID: 19357117

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
Eur J Hum Genet. 2009;17(8):1076-12
PubMed PMID: 19190672

Li Y, Pabst S, Lokhande S, Grohé C, Wollnik B
Extended genetic analysis of BTNL2 in sarcoidosis
Tissue Antigens. 2009;73(1):59-61
PubMed PMID: 19140834

Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F
Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings
J Neurol. 2009;256(3):416-9
PubMed PMID: 19277761

Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease
Mov Disord. 2009;24(3):429-33
PubMed PMID: 19097176

Schmidt K, Wolfe DM, Stiller B, Pearce DA
Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2
Biochem Biophys Res Commun. 2009;383(2):198-202
PubMed PMID: 19345671

Netzer C, Klein C, Kohlhase J, Kubisch C
New challenges for informed consent through whole genome array testing
J Med Genet. 2009;46(7):495-6
PubMed PMID: 19571117

Miró X, Zhou X, Boretius S, Michaelis T, Kubisch C, Alvarez-Bolado G, Gruss P
Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube
Dis Model Mech. 2009;2(7-8):412-8
PubMed PMID: 19535498

Kubisch C
Chromosomal microdeletions: minor imbalances with major consequences
Neurology. 2009;72(9):782-3
PubMed PMID: 19073943

Borck G, Seewi O, Jung A, Schönau E, Kubisch C
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister
J Clin Endocrinol Metab. 2009;94(6):2106-9
PubMed PMID: 19318451

Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two
Neuromuscul Disord. 2009;19(3):223-8
PubMed PMID: 19208478

Schmitz D, Netzer C, Henn W
An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis
Nat Rev Genet. 2009;10(8):515
PubMed PMID: 19546855

Bolz HJ
Genetics of Usher syndrome
Ophthalmologe. 2009;106(6):496-504
PubMed PMID: 19495774

Savaskan NE, Hahnen E, Eyüpoglu IY
The x(c)(-) cystine/glutamate antiporter (xCT) as a potential target for therapy of cancer: yet another cytotoxic anticancer approach?
J Cell Physiol. 2009;220(2):531-2
PubMed PMID: 19415694

Garbes L, Riessland M, Hölker I, Heller R, Hauke J, Tränkle C, Coras R, Blümcke I, Hahnen E, Wirth B
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
Hum Mol Genet. 2009 Oct 1;18(19):3645-58. Epub 2009 Jul 7
PubMed PMID: 19584083

Engelhorn T, Savaskan NE, Schwarz MA, Kreutzer J, Meyer EP, Hahnen E, Ganslandt O, Dörfler A, Nimsky C, Buchfelder M, Eyüpoglu IY
Cellular characterization of the peritumoral edema zone in malignant brain tumors
Cancer Sci. 2009t;100(10):1856-62
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
PubMed PMID: 19648921

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
PubMed PMID: 19692347

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

 

2008

Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, Nickenig G, Grohé C
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease
Clin Res Cardiol. 2008; 97(1):39-42
PubMed PMID: 17891520

Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA
Skewed X-inactivation in an X-linked Nystagmus Family Resulted From a Novel, p.R229G, Missense Mutation in the FRMD7
Br J Ophthalmol. 2008; 92(1):135-41
PubMed PMID: 17962394

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen TA, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P, Wollnik B, Krawczak M, Labuda D, Utermann G
Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations
J Med Genet. 2008 ;45(4):200-9
PubMed PMID: 17965227

Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nurnberg P, Ptacek LJ, Gobel H, Todt U, Kubisch C
Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura
Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41
PubMed PMID: 17680603

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Clin Genet. 2008;73(1):62-70
PubMed PMID: 18042262

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
Am J Hum Genet. 2008; 82(2):464-76
PubMed PMID: 18252226

Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
Am J Hum Genet. 2008;82(1):125-38
PubMed PMID: 18179891

Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
Hum Genet. 2008;123(2):141-53
PubMed PMID: 18172693

Hahnen E, Hauke J, Tränkle C, Eyüpoglu IY, Wirth B, Blümcke I
Histone deacetylase inhibitors: possible implications for neurodegenerative disorders
Expert Opin Investig Drugs. 2008; 17(2):169-84
PubMed PMID: 18230051

Becirovic E, Ebermann I, Nagy D, Zrenner E, Seeliger MW, Bolz HJ
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing
Hum Mutat. 2008; 29(3): 452
PubMed PMID: 18273900

Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
Hum Mutat. 2008;29(5):709-717
PubMed PMID: 18300272

Pasternack SM, von Kügelgen I, Aboud KA, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
Nat Genet. 2008;40(3):329-34
PubMed PMID: 18297070

Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Science. 2008;320(5875):524-7
PubMed PMID: 18440926

Savaskan NE, Heckel A, Hahnen E, Engelhorn T, Doerfler A, Ganslandt O, Nimsky C, Buchfelder M, Eyüpoglu IY
Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema
Nat Med. 2008;14(6):629-32
PubMed PMID: 18469825

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
Neurology. 2008;70(24):2343-4
PubMed PMID: 18541889

Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
J Med Genet. 2008;45(10):635-8
PubMed PMID: 18662980

Peter BF, Lidington D, Harada A, Bolz HJ, Vogel L, Heximer S, Spiegel S, Pohl U, Bolz SS
Role of sphingosine-1-phosphate phosphohydrolase 1 in the regulation of resistance artery tone
Circ Res. 2008;103(3):315-24
PubMed PMID: 18583713

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, T Te Beek E, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Nat Genet. 2008;40(9):1113-8
PubMed PMID: 18711368

Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen M, Goossens D, Favero J, Sanati M, Smith R, Van Camp G
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
Clin Genet. 2008;74(3):223-32
PubMed PMID: 18616530

Tatenhorst L, Hahnen E, Heneka MT
Peroxisome Proliferator-Activated Receptors (PPARs) as Potential Inducers of Antineoplastic Effects in CNS Tumors
PPAR Res. 2008; 2008: 204514
PubMed PMID: 18725982

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

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
Mol Vis. 2008;14:1081-93
PubMed PMID: 18552978

Netzer C, Freudenberg J, Heinze A, Heinze-Kuhn K, Goebel I, McCarthy LC, Roses AD, Göbel H, Todt U, Kubisch C
Replication study of the insulin receptor gene in migraine with aura
Genomics. 2008;91(6):503-7
PubMed PMID: 18455362

Nyholt DR, Laforge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A
A high-density association screen of 155 ion transport genes for involvement with common migraine
Hum Mol Genet. 2008;17(21):3318-31
PubMed PMID: 18676988

Seufert S, Coras R, Tränkle C, Zlotos DP, Blümcke I, Tatenhorst L, Heneka MT, Hahnen E
PPAR Gamma Activators: Off-Target Against Glioma Cell Migration and Brain Invasion
PPAR Res. 2008;2008:513946
PubMed PMID: 18815619

Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family
Am J Med Genet A. 2008;146A(23):3086-9
PubMed PMID: 18973245

Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
BMC Med Genet. 2008;9:102
PubMed PMID: 19014451

 

2007

Siebzehnrübl FA, Buslei R, Eyüpoglu IY, Seufert S, Hahnen E and Blümcke I
Histone Deacetylase Inhibitors Increase Neuronal Differentiation in Adult Forebrain Stem and Progenitor Cells
Exp Brain Res. 2007; 176(4):672-8
PubMed PMID: 17216146

Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mulsch A, Nussbaum RL, Muller K, Drose S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G
Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6
Neurobiol Dis. 2007; 25(2):401-11
PubMed PMID: 17141510

Rudnik-Schoneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schroder R, Wehnert M, Wirth B, Zerres K
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
Neurogenetics. 2007; 8(2):137-42
PubMed PMID: 17136397

Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti M, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
Circulation. 2007; 15(4):442-9
PubMed PMID: 17224476

Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies HC, Becker C, Nürnberg P, Basaran S, Yüksel Apak M, Wollnik B
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3
Clin Genet. 2007; 71(3):212-9
PubMed PMID: 17309643

Ebermann I, Walger M, Scholl HP, Issa PC, Luke C, Nurnberg G, Lang-Roth R, Becker C, Nurnberg P, Bolz HJ
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
Hum Mutat. 2007; 28(6):571-7
PubMed PMID: 17301963

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
Hum Genet. 2007; 121(2):203-11
PubMed PMID: 17171570

Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martinez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
Genet Med. 2007; 9(1):52-60
PubMed PMID: 17224690

Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
Genome Biol. 2007; 8(4):R47
PubMed PMID: 17407589

Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
Am J Hum Genet. 2007; 80(5):971-81
PubMed PMID: 17436252

Coras R, Holsken A, Seufert S, Hauke J, Eyupoglu IY, Reichel M, Trankle C, Siebzehnrubl FA, Buslei R, Blumcke I, Hahnen E
The peroxisome proliferator-activated receptor-gamma agonist troglitazone inhibits transforming growth factor-beta-mediated glioma cell migration and brain invasion
Mol Cancer Ther. 2007; 6(6):1745-54
PubMed PMID: 17541035

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
Hum Mutat. 2007; 28(7):718-23
PubMed PMID: 17373699

Frank V, Ortiz Bruchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
Hum Mutat. 2007; 28(6):638-9
PubMed PMID: 17437276

Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Hum Mol Genet. 2007; 16(12):1488-94
PubMed PMID: 17478476

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
Hum Genet. 2007; 122(2):191-9
PubMed PMID: 17569090

Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
Am J Med Genet A. 2007; 143(12):1308-12
PubMed PMID: 17506091

Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ
Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome
Mol Vis. 2007; 13: 1539-47
PubMed PMID: 17893653

Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I
Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway
Mol Cell Biol. 2007; 27:6903-12
PubMed PMID: 17682060

Kubisch C
Genetische Grundlagen der Migräne
Med Gen. 2007; 19:330-4
[SpringerLink / Medizinische Genetik]

Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
Am J Med Genet A. 2007;143:2382-9
PubMed PMID: 17853461

Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation
Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19802-7
PubMed PMID: 18056630

Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C
Mol Vis. 2007;13:1862-5
PubMed PMID: 17960123

Wirth B, Riessland M, Hahnen E
Drug discovery for spinal muscular atrophy
Expert Opin Drug Discov. 2007; 2(4): 437-51
[IngentaConnect]

Boyadjiev SA, International Craniosynostosis Consortium (Wollnik B)
Genetic analysis of non-syndromic craniosynostosis
Orthod Craniofac Res. 2007; 10(3):129-37
PubMed PMID: 17651129
[Blackwell Publishing / Blackwell Synergy]

 

2006

Tagariello A, Heller R, Greven A, Kalscheuer VM, Molter T, Rauch A, Kress W, Winterpacht A
Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region
J Med Genet. 2006;43(6):534-40
PubMed PMID: 16258006

Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
J Med Genet. 2006;43(2):e5
PubMed PMID: 16467215

Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C
Haplotype-based systematic association studies of ATP1A2 in migraine with aura
Am J Med Genet B Neuropsychiatr Genet. 2006;141B(3):257-260
PubMed PMID: 16508935

Netzer C, Bohlander SK, Hinzke M, Chen Y, Kohlhase J
Defining the heterochromatin localization and repression domains of SALL1
Biochim Biophys Acta. 2006 Mar; 1762(3):386-91
PubMed PMID: 16508935

Buslei R, Kreutzer J, Hofmann B, Schmidt V, Siebzehnrubl F, Hahnen E, Eyupoglu IY, Fahlbusch R, Blumcke I
Abundant hypermethylation of SOCS-1 in clinically silent pituitary adenomas
Acta Neuropathol (Berl). 2006;111(3):264-71
PubMed PMID: 16421738

Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
Hum Genet. 2006;119(4):422-8
PubMed PMID: 16508748

Li Y, Wollnik B, Pabst S, Lennarz M, Rohmann E, Gillissen A, Vetter H, Grohe C
BTNL2 gene variant and sarcoidosis
Thorax. 2006;61(3):273-4
PubMed PMID: 16517590

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B
Mutations in different components of FGF signaling in LADD syndrome
Nat Genet. 2006;38(4):414-7
PubMed PMID: 16501574

Schoenen F, Wirth B
The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB
Biol Chem. 2006;387(3):277-84
PubMed PMID: 16542149

Brichta L, Holker I, Haug K, Klockgether T, Wirth B
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
Ann Neurol. 2006;59(6):970-5
PubMed PMID: 16607616

Holsken A, Eyupoglu IY, Lueders M, Trankle C, Dieckmann D, Buslei R, Hahnen E, Blumcke I, Siebzehnrubl FA
Ex vivo therapy of malignant melanomas transplanted into organotypic brain slice cultures using inhibitors of histone deacetylases
Acta Neuropathol (Berl). 2006;112(2):205-15
PubMed PMID: 16773328

Fyfe JC, Menotti-Raymond M, David VA, Brichta L, Schaffer AA, Agarwala R, Murphy WJ, Wedemeyer WJ, Gregory BL, Buzzell BG, Drummond MC, Wirth B, O'brien SJ
An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
Genome Res. 2006;16(9):1084-90
PubMed PMID: 16899656

Hahnen E, Eyupoglu IY, Brichta L, Haastert K, Trankle C, Siebzehnrubl FA, Riessland M, Holker I, Claus P, Romstock J, Buslei R, Wirth B, Blumcke I
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
J Neurochem. 2006l;98(1):193-202
PubMed PMID: 16805808

Riessland M, Brichta L, Hahnen E, Wirth B
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
Hum Genet. 2006;120(1):101-10
PubMed PMID: 16724231

Eyupoglu IY, Hahnen E, Trankle C, Savaskan NE, Siebzehnrubl FA, Buslei R, Lemke D, Wick W, Fahlbusch R, Blumcke I
Experimental therapy of malignant gliomas using the inhibitor of histone deacetylase MS-275
Mol Cancer Ther. 2006;5(5):1248-55
PubMed PMID: 16731757

Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schroder R, Weber RG, Kornblum C
Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion
Acta Neurol Scand. 2006;114(2):133-8
PubMed PMID: 16867037

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nurnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
Hum Mutat. 2006;27(7):633-9
PubMed PMID: 16752389

Uyguner ZO, Siva A, Kayserili H, Saip S, Altintas A, Apak MY, Albayram S, Isik N, Akman-Demir G, Tasyurekli M, Oz B, Wollnik B
The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome
J Neurol Sci. 2006;246(1-2):123-30
PubMed PMID: 16730748

Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
Nat Genet. 2006;38(10):1184-91
PubMed PMID: 16964263

Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
Hum Genet. 2006;119(6):649-58
PubMed PMID: 16738948

Todt U, Freudenberg J, Goebel I, Netzer C, Heinze A, Heinze-Kuhn K, Gobel H, Kubisch C
MTHFR C677T polymorphism and migraine with aura
Ann Neurol. 2006;60(5):621-2; author reply 622-3
PubMed PMID: 16800002

Todt U, Freudenberg J, Goebel I, Heinze A, Heinze-Kuhn K, Rietschel M, Göbel H, Kubisch C
Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura
Neurology. 2006;67(9):1707-9
PubMed PMID: 17101915

Wirth B, Brichta L, Hahnen E
Spinal muscle Atrophy: From gene to therapy
Semin Pediatr Neurol. 2006; 13: 121-31. BUCHBEITRAG
PubMed PMID: 17027862

Wirth B, Brichta L, Hahnen E
Spinal muscular atrophy and therapeutic prospects
Prog Mol Subcell Biol. 2006;44:109-32
PubMed PMID: 17076267
Springer ISBN-10: 3-540-34448-9, ISBN-13: 978-3-540-34448-3

 

2005

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
Hum Mutat. 2005;25(1):64-71
PubMed PMID: 15580564

Stefanova M, Meinecke P, Gal A, Bolz H
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype
Am J Med Genet A. 2005;132(4):386-90
PubMed PMID: 15654694

Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
Eur J Hum Genet. 2005;13(5):563-9
PubMed PMID: 15770227

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Gobel H, Kubisch C
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine
Hum Mutat. 2005;26(4):315-21
PubMed PMID: 16110494

Buslei R, Nolde M, Hofmann B, Meissner S, Eyupoglu IY, Siebzehnrubl F, Hahnen E, Kreutzer J, Fahlbusch R
Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region
Acta Neuropathol (Berl). 2005;109(6):589-97
PubMed PMID: 15891929

Eyupoglu IY, Hahnen E, Heckel A, Siebzehnrubl FA, Buslei R, Fahlbusch R, Blumcke I
Malignant glioma-induced neuronal cell death in an organotypic glioma invasion model. Technical note
J Neurosurg. 2005;102(4):738-44.
PubMed PMID: 15871520

Eyupoglu IY, Hahnen E, Buslei R, Siebzehnrubl FA, Savaskan NE, Luders M, Trankle C, Wick W, Weller M, Fahlbusch R, Blumcke I
Suberoylanilide hydroxamic acid (SAHA) has potent anti-glioma properties in vitro, ex vivo and in vivo
J Neurochem. 2005;93(4):992-9
PubMed PMID: 15857402

Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
Hum Genet. 2005;118(2):261-6
PubMed PMID: 16151858

Madrid RE, Kubisch C, Hays AP
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
Neurology 2005;65:1301-1303
PubMed PMID: 16247063

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
J Mol Med. 2005;83(12):1025-32
PubMed PMID: 16283141

Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A
Cannabinoid receptor type 2 gene is associated with human osteoporosis
Hum Mol Genet. 2005;14(22):3389-99
PubMed PMID: 16204352

Bolz H, Ebermann I, Gal A
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies
Mol Vis. 2005;11:929-933
PubMed PMID: 16288196

Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy
11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15(11):802-16
PubMed PMID: 16202598

Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
J Neurol. 2005;252(5):538-47
PubMed PMID: 15726252

Kubisch C, Ketelsen UP, Goebel I, Omran H
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations
Ann Neurol 2005; 57: 303-304
PubMed PMID: 15668980

Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin S, Hennies HC, Nurnberg P, Desnick RJ, and Wollnik B
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
J Med Genet 2005; 42: 408-415
PubMed PMID: 15863670

Bolz H
Genetics of retinal dystrophies - an overview
Ophthalmologe. 2005;102(7):661-73
PubMed PMID: 15782291
Der Ophtalmologe

Kubisch C
Genetische Grundlagen nichtsyndromaler Hörstörungen
Deutsches Ärzteblatt. 2005, A2946 – A2953
Deutsches Ärzteblatt

 

2004

Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)
Hum Mutat. 2004;24(3):274-5
PubMed PMID: 15300860

Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
Hum Mutat. 2004;24(4):321-9
PubMed PMID: 15365989

Jeron A, Hengstenberg C, Holmer S, Wollnik B, Riegger GA, Schunkert H, Erdmann J
KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction
J Mol Cell Cardiol. 2004;36(2):287-93
PubMed PMID: 14871556

Brichta L, Hahnen E, Haug K, Stier S, Klockgether T, Wirth B
Einfluss von Valproinsäure auf den SMN2-Proteinlevel: Eine gut bekannte Substanz als mögliche Therapie der spinalen Muskelatrophie
Jahrbuch der Neuromuskulären Erkrankungen (2004), Arcis Verlag, ISSN 1435-4209

Basaran S, Engur A, Aytan M, Karaman B, Ghanbari A, Toksoy G, Yuksel A, Cankat D, Kervancioglu E, Wollnik B, Bahceci M, Yuksel-Apak M
The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses
Fetal Diagn Ther. 2004 Jul-Aug;19(4):313-8
PubMed PMID: 15192289