Publikationsliste

2020

Bolz HJ.
Update of a classic.
Eur J Hum Genet. 2020 May;28(5):691.
PubMed PMID: 31754266

Czibere L, Burggraf S, Fleige T, Glück B, Keitel LM, Landt O, Durner J, Röschinger W, Hohenfellner K, Wirth B, Müller-Felber W, Vill K, Becker M.
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
Eur J Hum Genet. 2020;28:23-30
PubMed PMID: 31363188

Koehler S, Kuczkowski A, Kuehne L, Jüngst C, Hoehne M, Grahammer F, Eddy S, Kretzler M, Beck BB, Höhfeld J, Schermer B, Benzing T, Brinkkoetter PT, Rinschen MM.
Proteome Analysis of Isolated Podocytes Reveals Stress Responses in Glomerular Sclerosis.
J Am Soc Nephrol. 2020;31(3):544-559.
PubMed PMID: 32047005

Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H.
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening -Opportunity or Burden?
J Neuromuscul Dis. 2020;7(2):109-117
PubMed PMID: 32144995

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S.
The genomic and clinical landscape of fetal akinesia.
Genet Med. 2020;22(3):511-523.
PubMed PMID: 31680123

Taylan C, Wenzel A, Erger F, Göbel H, Weber LT, Beck BB.
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease.
Front Pediatr. 2020;8:42.
PubMed PMID: 32219082

Thelen MP, Kye MJ.
The Role of RNA Binding Proteins for Local mRNA Translation: Implications in Neurological Disorders.
Front Mol Biosci. 2020;15;6:161.
PubMed PMID: 32010708

Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N.
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Annu Rev Genomics Hum Genet. 2020 Jan 31. doi: 10.1146/annurev-genom-102319-103602. [Epub ahead of print]
PubMed PMID: 32004094

2019

Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B. 
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. 
J Obstet Gynaecol. 2019;39(3):395-397.
PubMed PMID: 29893154

Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J. 
Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity. 
J Bone Miner Res. 2019;34(1):93-105.
PubMed PMID: 30347474

Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P. 
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. 
PLoS One. 2018 Dec 13;13(12):e0207958.
PubMed PMID: 30543658

Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P. 
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. 
Clin Exp Ophthalmol. 2019 Aug;47(6):779-786
PubMed PMID: 30977268

Charbel Issa P, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, Downes SM, MacLaren RE, Betz C, Bolz HJ
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. 
Invest Ophthalmol Vis Sci. 2019;60(10):3388-3397.
PubMed PMID: 31387115

Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003.
PubMed PMID: 30609407

Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nuernberg P, Motameny S, Thiele H, Cirak S.
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Cold Spring Harb Mol Case Stud. 2019 Oct 11. pii: mcs.a004465. doi: 10.1101/mcs.a004465. [Epub ahead of print]
PubMed PMID: 31604777

Edem P, Karakaya M, Wirth B, Okur TD, Yiş U.
Giant axonal neuropathy: A differential diagnosis of consideration.
Turk J Pediatr. 2019;61(2):275-278
PubMed PMID: 31951341

Erger F, Schaaf CP, Netzer C. 
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 
Mol Cell Probes. 2019;45:84-88.
PubMed PMID: 30914295

Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. 
Genet Med. 2019 Aug;21(8):1797-1807 
PubMed PMID: 30679821

Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin GW, Hoppe B, Hulton SA; OxalEurope Consortium.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Kidney Int. 2019 Dec;96(6):1389-1399.
PubMed PMID: 31685312

Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A
Report of a novel ATP7A mutation causing distal motor neuropathy.
Neuromuscul Disord. 2019 Aug 23. 29(10):776-785
PubMed PMID: 31558336

Hoyer-Kuhn H, Rehberg M, Netzer C, Schoenau E, Semler O.
Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort.
Orphanet J Rare Dis. 2019 Sep 18;14(1):219.
PubMed PMID: 31533771

Jansen E, Wolff L, Mendoza-Ferreira N, Hupperich K, Delle Vedove A, Hosseinibarkooie S, Kye MJ, Wirth B.
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Front Neurosci. 2019 Sep 19;13:993.
PubMed PMID: 31607845

Kalbe E, Roheger M, Paluszak K, Meyer J, Becker J, Fink GR, Kukolja J, Rahn A, Szabados F, Wirth B, Kessler J. 
Effects of a Cognitive Training With and Without Additional Physical Activity in Healthy Older Adults: A Follow-Up 1 Year After a Randomized Controlled Trial. 
Front Aging Neurosci. 2018 Dec 18;10:407
PubMed PMID: 30618714

Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 
Am J Med Genet A. 2019 Aug;179(8):1580-1584 
PubMed PMID: 31102495

Karakaya M, Wirth B.
Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein.
Brain. 2019 Oct 1;142(10):2895-2897. 
PubMed PMID: 31560060

Lagies R, Udink Ten Cate FEA, Feldkötter M, Beck BB, Sreeram N, Hoppe B, Herberg U. Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study. 
Pediatr Nephrol. 2019 Aug 22
PubMed PMID: 31440827

Laugsch M, Bartusel M, Rehimi R, Alirzayeva H, Karaolidou A, Crispatzu G, Zentis P, Nikolic M, Bleckwehl T, Kolovos P, van Ijcken WFJ, Šarić T, Koehler K, Frommolt P, Lachlan K, Baptista J, Rada-Iglesias A. 
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs. 
Cell Stem Cell. 2019;24(5):736-752.
PubMed PMID: 30982769

Lindner A, Marbach F, Tschernitz S, Ortner C, Berneburg M, Felthaus O, Prantl L, Kye MJ, Rappl G, Altmüller J, Thiele H, Schreml S, Schreml J
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. 
Sci Rep. 20191;9(1):8444.
Pubmed PMID: 31186450

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. 
Am J Hum Genet. 2019;104(4):749-757.
Pubmed PMID: 30905398

Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR.
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Stem Cell Res. 2019 Dec;41:101626.
PubMed PMID: 31715429

Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet. 2019 Oct 3;105(4):836-843.
PubMed PMID: 31564437

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. 
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 
Am J Hum Genet. 2019 Aug 1;105(2):384-394
PubMed PMID: 31256876

Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S. 
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. 
Pediatr Nephrol. 2019;34(6):1065-1075. 
PubMed PMID: 30666461

Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. 
FASEB J. 2019 Oct;33(10):11507-11527.
Pubmed PMID: 31345061

Rehorst WA, Thelen MP, Nolte H, Türk C, Cirak S, Peterson JM, Wong GW, Wirth B, Krüger M, Winter D, Kye MJ
Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy.
Acta Neuropathol Commun. 2019 Oct 15;7(1):154
PubMed PMID: 31615574

Schorling DC, Becker J, Pechmann A, Langer T, Wirth B, Kirschner J. 
Discrepancy in redetermination of SMN2 copy numbers in children with SMA. 
Neurology. 2019 Aug 6;93(6):267-269. 
PubMed PMID: 31235659

Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN. Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. 
J Autism Dev Disord. 2018 Oct 20. 
PubMed PMID: 30343463

Torres-Benito L, Schneider S, Rombo R, Ling KK, Grysko V, Upadhyay A, Kononenko NL, Rigo F, Bennett CF, Wirth B
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice. 
Am J Hum Genet. 2019;105(1):221-230.
PubMed PMID: 31230718

Upadhyay A, Hosseinibarkooie S, Schneider S, Kaczmarek A, Torres-Benito L, Mendoza-Ferreira N, Overhoff M, Rombo R, Grysko V, Kye MJ, Kononenko NL, Wirth B
Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological. 
Front Mol Neurosci. 2019 Feb 12
PubMed PMID: 30853885

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. 
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. 
Genet Med. 2019;21(6):1295-1307.
PubMed PMID: 30696996

Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W.
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428.
PubMed PMID: 31594245

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. 
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 
Genet Med. 2018;21(3):663-675. 
PubMed PMID: 30158690

Zempel H, Mandelkow E.
Mechanisms of Axonal Sorting of Tau and Influence of the Axon Initial Segment on Tau Cell Polarity.
Adv Exp Med Biol. 2019;1184:69-77.
PubMed PMID: 32096029

2018

Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B.
A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.
J Obstet Gynaecol. 2018 Jun 12:1-3. doi: 10.1080/01443615.2018.1454415. [Epub ahead of print]
No abstract available.
PubMed PMID: 29893154

Beck BB.
“Old friends, new friends” – Neues zu ATKD-MUC1.
Nephrol. 2018;13:43-44.

Beck BBNetzer C
Einführung zum Thema: Erbliche Nierenerkrankungen. Die Nephrogenetik wird erwachsen.
Medizinische Genetik 2018;30(4):389-390.

Belostotsky R, Lyakhovetsky R, Sherman MY, Shkedy F, Tzvi-Behr S, Bar R, Hoppe B, Reusch B, Beck BB, Frishberg Y.
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
J Mol Med (Berl). 2018 Jul;96(7):621-630. doi: 10.1007/s00109-018-1651-8. Epub 2018 May 18.
PubMed PMID: 29777253

Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P.
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.
PubMed PMID: 29555955

Boehm V, Britto-Borges T, Steckelberg AL, Singh KK, Gerbracht JV, Gueney E, Blazquez L, Altmüller J, Dieterich C, Gehring NH.
Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity.
Mol Cell. 2018 Nov 1;72(3):482-495.e7. doi: 10.1016/j.molcel.2018.08.030.
PubMed PMID: 30388410

Bolz HJ.
Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.
Eur J Hum Genet. 2018 Jul;26(7):930. doi: 10.1038/s41431-018-0162-y. Epub 2018 May 25. No abstract available.
PubMed PMID: 29795473

Bolz HJ.
Despite Challenges and Pitfalls: How Ophtalmology Benefits from the Use of next-generation Sequencing Klin Monbl Augenheilkd. 2018 Mar;235(3):258-263. doi: 10.1055/s-0043-122076. Epub 2018 Feb 1
PubMed PMID: 29390234

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
PubMed PMID: 30179222

Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium.
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J Pediatr. 2018; 199:22-28.
PubMed PMID: 29753540

Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T. Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.
PubMed PMID: 29800053

Dron JS, Wang J, Berberich AJ, Iacocca MA, Cao H, Yang P, Knoll J, Tremblay K, Brisson D, Netzer C, Gouni-Berthold I, Gaudet D, Hegele RA.
Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.
J Lipid Res. 2018 Aug;59(8):1529-1535. doi: 10.1194/jlr.P086280. Epub 2018 Jun 4.
PubMed PMID: 29866657

Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12.
PubMed PMID: 29309402

Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C. 
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0195-2. [Epub ahead of print]
PubMed PMID: 29891879

Erger F
Monoogene Formen der arteriellen Hypertonie.
Medizinische genetik 2018;30(4): 391-399

Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.
PubMedPMID: 29305137

George J, Walter V, Peifer M, Alexandrov LB, Seidel D, Leenders F, Maas L, Müller C, Dahmen I, Delhomme TM, Ardin M, Leblay N, Byrnes G, Sun R, De Reynies A, McLeer-Florin A, Bosco G, Malchers F, Menon R, Altmüller J, Becker C, Nürnberg P, Achter V, Lang U, Schneider PM, Bogus M, Soloway MG, Wilkerson MD, Cun Y, McKay JD, Moro-Sibilot D, Brambilla CG, Lantuejoul S, Lemaitre N, Soltermann A, Weder W, Tischler V, Brustugun OT, Lund-Iversen M, Helland Å, Solberg S, Ansén S, Wright G, Solomon B, Roz L, Pastorino U, Petersen I, Clement JH, Sänger J, Wolf J, Vingron M, Zander T, Perner S, Travis WD, Haas SA, Olivier M, Foll M, Büttner R, Hayes DN, Brambilla E, Fernandez-Cuesta L, Thomas RK.
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.
Nat Commun. 2018 Mar 13;9(1):1048. doi: 10.1038/s41467-018-03099-x.
PubMed PMID: 29535388

Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002.
PubMed PMID: 30100084

Gillentine MA, Lozoya R, Yin J, Grochowski CM, White JJ, Schaaf CP, Calarge CA.
CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders.
J Affect Disord. 2018 Jul 11;239:247-252. doi: 10.1016/j.jad.2018.07.017. [Epub ahead of print]
PubMed PMID: 30029151

Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP.
An estimation of the prevalence of genomic disorders using chromosomal microarray data.
J Hum Genet. 2018 Jul;63(7):795-801. doi: 10.1038/s10038-018-0451-x. Epub 2018 Apr 24.
PubMed PMID: 29691480

Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ.
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Sci Rep. 2018 May 21;8(1):7907. doi: 10.1038/s41598-018-26347-y. Erratum in: Sci Rep. 2018 Jul 3;8(1):10294.
PubMed PMID: 29784949

Harms FL, Nampoothiri S, Kortüm F, Thomas J, Panicker VV, Alawi M, Altmüller J, Yesodharan D, Kutsche K.
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.
Br J Dermatol. 2018 Nov;179(5):1192-1194. doi: 10.1111/bjd.16912. Epub 2018 Aug 12.
PubMed PMID: 29947416

Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E.
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.
PubMed PMID: 29522266

Hoefele J, Beck BB, Weber LT, Brinkkötter P.
Steroid-resistentes nephrotisches Syndrom.
Medizinische Genetik 2018;30(4): 410-421

Höhne M, Frese CK, Grahammer F, Dafinger C, Ciarimboli G, Butt L, Binz J, Hackl MJ, Rahmatollahi M, Kann M, Schneider S, Altintas MM, Schermer B, Reinheckel T, Göbel H, Reiser J, Huber TB, Kramann R, Seeger-Nukpezah T, Liebau MC, Beck BB, Benzing T, Beyer A, Rinschen MM.
Single-nephron proteomes connect morphology and function in proteinuric kidney disease.
Kidney Int. 2018 Jun;93(6):1308-1319. doi: 10.1016/j.kint.2017.12.012. Epub 2018 Mar 9.
PubMed PMID: 29530281

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.
PubMed PMID: 30148849

Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
Brain. 2018 Aug; 141(8): 2343–2361. Published online 2018 Jun 28. doi: 10.1093/brain/awy167
PubMed PMID: 29961886

Karakaya M, Storbeck M, Strathmann EA, Vedove AD, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25.
PubMed PMID: 29858556

Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ.
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9.
PubMed PMID: 28369829

Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS.
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26.
PubMed PMID: 30049680

Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ;
Project Cure SMA Investigator's Network. Clinical trial of L-carnitine and valproic acid in spinal muscular atrophy type I.
Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.
PubMed PMID: 28833236

Madsen JOB, Sauer S, Beck B, Johannesen J.
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.
J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):83-86. doi: 10.4274/jcrpe.4841. Epub 2017 Sep 6.
PubMed PMID: 28874334

Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Hum Mol Genet. 2018 May 15;27(10):1772-1784. doi: 10.1093/hmg/ddy086.
PubMed PMID: 29528393

McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP.
Schaaf-Yang syndrome overview: Report of 78 individuals.
Am J Med Genet A. 2018 Oct 10. doi: 10.1002/ajmg.a.40650. [Epub ahead of print]
PubMed PMID: 30302899

Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B.<
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.
PubMed PMID: 29379881

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.
PubMed PMID: 29290580

Neugebauer J, Heilig J, Hosseinibarkooie S, Ross BC, Mendoza-Ferreira N, Nolte F, Peters M, Hölker I, Hupperich K, Tschanz T, Grysko V, Zaucke F, Niehoff A, Wirth B.
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
Hum Mol Genet. 2018 Sep 10. doi: 10.1093/hmg/ddy318. [Epub ahead of print]
PubMed PMID: 30204862

Peeva V, Blei D, Trombly G, Corsi S, Szukszto MJ, Rebelo-Guiomar P, Gammage PA, Kudin AP, Becker C, Altmüller J, Minczuk M, Zsurka G, Kunz WS.
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Nat Commun. 2018 Apr 30;9(1):1727. doi: 10.1038/s41467-018-04131-w.
PubMed PMID: 29712893

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.
PubMed PMID: 30388404

Shorrock HK, van der Hoorn D, Boyd PJ, Llavero Hurtado M, Lamont DJ, Wirth B, Sleigh JN, Schiavo G, Wishart TM, Groen EJN, Gillingwater TH.
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy.
Brain. 2018 Oct 1;141(10):2878-2894. doi: 10.1093/brain/awy237.
PubMed PMID: 30239612

Staubach S, Wenzel A, Beck BB, Rinschen MM, Müller S, Hanisch FG.
Autosomal Tubulointerstitial Kidney Disease - Muc1 Type: Differential Proteomics Suggests that Mutated Muc1(Insc) Affects Vesicular Transport in Renal Epithelial Cells.
Proteomics. 2018;18(7). doi: 10.1002/pmic.201700456.
PubMed PMID: 29436780

Strathmann EA, Peters M, Hosseinibarkooie S, Rigo FW, Bennett CF, Zaworski PG, Chen KS, Nothnagel M, Wirth B.
Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
PLoS One. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018.
PubMed PMID: 30188931

Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN.
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
J Autism Dev Disord. 2018 Oct 20. doi: 10.1007/s10803-018-3775-7. [Epub ahead of print]
PubMed PMID: 30343463

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet. 2018;103(1):154-162.
PubMed PMID: 29961569

van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Mujgan Sonmez F, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med. 2018 Nov 8. doi: 10.1038/s41436-018-0330-z. [Epub ahead of print]
PubMed PMID: 30349098

van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF.
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Nephron. 2018;139(4):359-366.
PubMed PMID: 29791908

Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.
Pediatr Nephrol. 2018 Jul;33(7):1275-1276. doi: 10.1007/s00467-018-3944-0.
PubMed PMID: 29637271

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J,Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.
PubMed PMID: 29368626

Weigert A, Beck BB, Hoppe B.
Genetische Nierensteinerkrankungen.
Medizinische Genetik 2018;30(4): 438-447.

Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB.
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0.
PubMed PMID: 29520014

Yu PH, Kuo YR, Altmüller J, Hwang DY.
Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Kaohsiung J Med Sci. 2018 Oct;34(10):588-589. doi: 10.1016/j.kjms.2018.03.010. Epub 2018 Apr 19. No abstract available.
PubMed PMID: 30309488

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med. 2018 Aug 30. doi: 10.1038/s41436-018-0085-6. [Epub ahead of print]
PubMed PMID: 30158690

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R,  A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol. 2018 Jul 2. pii: ASN.2018020180. doi: 10.1681/ASN.2018020180. [Epub ahead of print]
PubMed PMID: 29967284

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. 2017;92(1):62-68.
PubMed PMID: 28004384

Ardicli D, Gocmen R, Talim B, Sprute R, Haliloglu G, Cirak S, Topaloglu H.
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
Neuromuscul Disord. 2017;27(3):239-242.
PubMed PMID: 28109637

Awazawa M, Gabel P, Tsaousidou E, Nolte H, Krüger M, Schmitz J, Ackermann PJ, Brandt C, Altmüller J, Motameny S, Wunderlich FT, Kornfeld JW, Blüher M, Brüning JC.
A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle.
Nat Med. 2017 Dec;23(12):1466-1473. doi: 10.1038/nm.4420. Epub 2017 Nov 6.
PubMed PMID: 29106399

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, Müller RU.
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
BMC Med Genet. 2017;18(1):53.
PubMed PMID: 28499369

Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17.
PubMed PMID: 27866708

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2017;32(5):733-741
PubMed PMID: 27289364

Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Am J Med Genet A. 2017;173(3):806-808.
PubMed PMID: 27901313

Diao Y, Cui L, Chen Y, Burbridge TJ, Han W, Wirth B, Sestan N, Crair MC, Zhang J.
Reciprocal Connections Between Cortex and Thalamus Contribute to Retinal Axon Targeting to Dorsal Lateral Geniculate Nucleus.
Cereb Cortex. 2017;10:1-15.
PubMed PMID: 28334242

Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC.
Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Pediatr Nephrol. 2017;32(7):1269-1273
PubMed PMID: 28364132

Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber LT, Beck BB, Liebau MC.
A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome.
Clin Nephrol. 2017;88(1):45-51.
PubMed PMID: 28502323

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet. 2017;101(5)
PubMed PMID: 29100093

Erger F, Brüchle NO, Gembruch U, Zerres K.
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Arch Gynecol Obstet. 2017;295(4):897-906.
PubMed PMID: 28283827

Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R.
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum Mol Genet. 2017 Oct 15;26(20):4055-4066. doi: 10.1093/hmg/ddx296.
PubMed PMID: 29016863

Finkel RS, Sejersen T, Mercuri E; ENMC SMA Workshop Study Group (incl. Wirth B).
218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.
Neuromuscul Disord. 2017;27(6):596-605.
PubMed PMID: 28392274

Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nat Genet. 2017;49(2):249-255.
PubMed PMID: 28067911

Hackl A, Ehren R, Kirschfink M, Zipfel PF, Beck BB, Weber LT, Habbig S.
Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS.
Pediatr Nephrol. 2017;32(6):1081-1087.
PubMed PMID: 28220235

Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, Habbig S.
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Pediatr Nephrol. 2017;32(5):791-800.
PubMed PMID: 28083701

Hahnen E, Lederer B, Hauke J, Loibl S, Kröber S, Schneeweiss A, Denkert C, Fasching PA, Blohmer JU, Jackisch C, Paepke S, Gerber B, Kümmel S, Schem C, Neidhardt G, Huober J, Rhiem K, Costa S, Altmüller J, Hanusch C, Thiele H, Müller V, Nürnberg P, Karn T, Nekljudova V, Untch M, von Minckwitz G, Schmutzler RK.
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
JAMA Oncol. 2017 Oct 1;3(10):1378-1385. doi: 10.1001/jamaoncol.2017.1007.
PubMed PMID: 28715532

Haverkampf S, Heider J, Weiß KT, Berneburg M, Karrer S, Schreml S, Haubner F, Ettl T, Schreml J, Hedtrich S, von Süßkind-Schwendi M, Dissemond J.
NHE1 expression at wound margins increases time-dependently during physiological healing.
Exp Dermatol. 2017;26(2):124-126.
PubMed PMID: 27249231

Hosseinibarkooie S, Schneider S, Wirth B.
Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.
Expert Rev Proteomics.2017;14(7):581-592.
PubMed PMID: 28635376

Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J.
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7.
PubMed PMID: 29018201

Karakaya M*, Mazaheri N*, Polat I*, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B.
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Brain. 2017;140(10):e65.
PubMed PMID: 28969388

Karakaya M, Yilmaz S, Storbeck M, Hoelker I, Heller R, Serdaroglu G, Gökben S, Yis U, Wirth B.
PRUNE1: a disease-causing gene for secondary microcephaly.
Brain. 2017;140(10):e61
PubMedPMID: 28969376

Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Sci Rep. 2017;3;7(1):1411.
PubMed PMID: 28469144

Khan AO, Lenzner S, Bolz HJ.
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
Ophthalmic Genet. 2016.38(4):380-382
PubMed PMID: 27668459

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain. 2017;140(6):1561-1578.
PubMed PMID: 28459997

Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B.
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Mol Genet Genomic Med. 2017 Jul 28;5(5):580-584.
PubMed PMID: 28944240

Moosa S, Böhrer-Rabel H, Altmüller JBeleggia F, Nürnberg P, Li YYigit GWollnik B.
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
Am J Med Genet A. 2017;173(1):264-267.
PubMed PMID: 27753196

Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I.
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin Genet. 2017;92(3):342-343.
PubMed PMID: 28369852

Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B.
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Mol Genet Genomic Med. 2017 Jul 28;5(5):580-584. doi: 10.1002/mgg3.287. eCollection 2017 Sep.
PubMed PMID: 28944240

Neidhardt G, Becker A, Hauke J, Horváth J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmüller J, Nürnberg P, Meindl A, Rhiem K, Blümcke B, Wappenschmidt B, Schmutzler RK, Hahnen E.
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.
Eur J Cancer Prev. 2017 Mar;26(2):165-169. doi: 10.1097/CEJ.0000000000000240.
PubMed PMID: 27622768

Neidhardt G, Hauke J, Ramser J, Groß E, Gehrig A, Müller CR, Kahlert AK, Hackmann K, Honisch E, Niederacher D, Heilmann-Heimbach S, Franke A, Lieb W, Thiele H, Altmüller J, Nürnberg P, Klaschik K, Ernst C, Ditsch N, Jessen F, Ramirez A, Wappenschmidt B, Engel C, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
JAMA Oncol. 2017 Sep 1;3(9):1245-1248. doi: 10.1001/jamaoncol.2016.5592.
PubMed PMID: 28033443

Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Clin Genet. 2017;91(6):892-900.
PubMed PMID: 27808407

Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26mutated in Heimler syndrome.
Mol Genet Genomic Med. 2017;5(5):531-552.
PubMed PMID: 28944237

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.
PubMed PMID: 29053855

Novak JS, Hogarth MW, Boehler JF, Nearing M, Vila MC, Heredia R, Fiorillo AA, Zhang A, Hathout Y, Hoffman EP, Jaiswal JK, Nagaraju K, Cirak S, Partridge TA.
Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.
Nat Commun. 2017 Oct 16;8(1):941. doi: 10.1038/s41467-017-00924-7.
PubMed PMID: 29038471

O'Hern PJ, do Carmo G Gonçalves I, Brecht J, López Soto EJ, Simon J, Chapkis N, Lipscombe D, Kye MJ, Hart AC.
Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models.
Elife. 2017 May 2;6. pii: e20752. doi: 10.7554/eLife.20752.
PubMed PMID: 28463115

Rademacher S, Verheijen BM, Hensel N, Peters M, Bora G, Brandes G, Vieira de Sá R, Heidrich N, Fischer S, Brinkmann H, van der Pol WL, Wirth B, Pasterkamp RJ, Claus P.
Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).
Hum Mol Genet. 2017;26(20):3946-3959.
PubMed PMID: 29016853

Ralser DJ, Lestringant GG, Du-Thanh A, Kokordelis P, Fischer J, Basmanav FBÜ, Wolf S, Thiele H, Altmüller J, Nürnberg P, Oji V, Fritz G, Frank J, Betz RC.
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
Br J Dermatol. 2017 Dec;177(6):e340-e343. doi: 10.1111/bjd.16024. Epub 2017 Nov 29.
PubMed PMID: 29192958

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nat Genet. 2017;49(4):537-549.
PubMed PMID: 28191891

Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A. 2017;173(8):2132-2138.
PubMed PMID: 28574232

Riessland M*Kaczmarek A*Schneider S*, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie STorres-Benito LPeters MUpadhyay A, Biglari N, Kröber SHölker IGarbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am J Hum Genet. 2017;100(2):297-315.
PubMed PMID: 28132687

Salpietro V*, Lin W*, Delle Vedove A*Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar S, Pitt M, Bello O, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.
PubMed PMID: 28253535

Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur J Hum Genet. 2017;25(9):1040-1048.
PubMed PMID: 28635954

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, AltmüllerJ, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.
PubMed PMID: 28714244

Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Pediatr Nephrol. 2017;32(12):2263-2271.
PubMed PMID: 28711958

Weiß KT, Fante M, Köhl G, Schreml J, Haubner F, Kreutz M, Haverkampf S, Berneburg M, Schreml S.
Proton-sensing G protein-coupled receptors as regulators of cell proliferation and migration during tumor growth and wound healing.
Exp Dermatol. 2017;26(2):127-132.
PubMed PMID: 27623507

Wirth B.
Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.
Eur J Hum Genet. 2017 Dec;25(s2):S37-S38. doi: 10.1038/ejhg.2017.151. No abstract available.
PubMed PMID: 29297868

Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ.
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
Front Genet. 2017 Sep 22;8:130
PubMed PMID: 29018476

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 GWollnik 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 CirakS.).
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 IDRehorst WAKye 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 FHerzig H, Altmüller JNürnberg 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 FHerzig H, Altmüller JNürnberg 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 LHölker IHupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SMStorbeck M, Fusaki N, Lonigro R, Heller RKye 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 KHoffmann AMendoza-Ferreira NKaczmarek AJanzen EMilbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland MKye 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 MHeller 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 AReusch 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 SWollnik 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 JThiele 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 ABeck 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 LStorbeck MWirth 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 NBeleggia 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 RThoenes 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.

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 GLi 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 BYigit 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 RThoenes 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 RThoenes 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 FLi 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 BYigit 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

2014

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 RThoenes 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 LWirth 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 LMartínez 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 KBeleggia FPohl EMilz 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 MJGonçalves 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 StorbeckKristina Hupperich, John Antonydas Gaspar, Kesavan Meganathan, Lilian Martínez CarreraRadu Wirth, Agapios Sachinidis, Brunhilde Wirth
Neuronal-Specific Deficiency of the Splicing Factor Tra2b Causes Apoptosis in Neurogenic Areas of the Developing Mouse Brain 
PLOS ONE, 2014 Feb 19;9(2):e89020.
PubMed PMID: 24586484

Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol. 2014 Aug;29(8):1451-6
PubMed PMID:24504730

Wishart TM, Mutsaers CA, Riessland M, Reimer MM, Hunter G, Hannam ML, Eaton SL, Fuller HR, Roche SL, Somers E, Morse R, Young PJ, Lamont DJ, Hammerschmidt M, Joshi A, Hohenstein P, Morris GE, Parson SH, Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH.
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.
J Clin Invest. 2014 Apr 1;124(4):1821-34. doi: 10.1172/JCI71318. Epub 2014 Mar 3.
PubMed PMID: 24590288

Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.
Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin.
Kidney Int. 2014 Sep;86(3):589-99
PubMed PMID: 24670410

Khan AO, Bolz HJ, Bergmann C.
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
J AAPOS. 2014;18(2):203-5.
PubMedPMID: 24698627
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Br J Ophthalmol. 2014 Dec;98(12):1724-8
PubMed PMID: 24997176

Khan AO, Nagl S, Bergmann C, Bolz HJ.
Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").
J Pediatr Ophthalmol Strabismus. 2014 Jul 16;51 Online:e51-4
PubMed PMID: 25032695

Khan AO, Bolz HJ, Bergmann C.
Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.
J AAPOS. 2014;18(2):134-9.
PubMed PMID: 24698609

Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Hum Mutat. 2014;35(5):565-70.
PubMed PMID: 24616153

Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy.
Hum Mutat. 2014;35(10):1153-62.
PubMed PMID: 25044745

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G.
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Kidney Int. 2014 Dec;86(6):1197-204
PubMed PMID: 24988064

Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG.
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
PLoS Genet. 2014
PubMed PMID: 24699222

Kye MJ, Niederst ED, Wertz MH, Gonçalves ID, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M.
SMN regulates axonal local translation via miR-183/mTOR pathway.
Hum Mol Genet. 2014 Dec 1;23(23):6318-31
PubMed PMID: 25055867

Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O.
Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI.
Orphanet J Rare Dis. 2014;26;9(1):145
PubMed PMID: 25257953

Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C.
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
J Bone Miner Res. 2014;29(6):1387-91.
PubMed PMID: 24293101

Linder B, Hirmer A, Gal A, Rüther K, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
Identification of a PRPF4 loss-of-function  variant that abrogates U4/U6.U5 Tri-snRNP integration and is associated with retinitis pigmentosa.
PLoS One. 2014 Nov 10; 9(11).
PubMed PMID: 25383878

Powis RA, Mutsaers CA, Wishart TM, Hunter G, Wirth B, Gillingwater TH.
Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target.
Neuropathol Appl Neurobiol. 2014 Dec;40(7):873-87. doi: 10.1111/nan.12168.
PubMed PMID: 25041530

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nat Genet. 2014 Dec;46(12):1283-92. doi: 10.1038/ng.3122. Epub 2014 Oct 26.
PubMed PMID: 25344692

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J1, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.
Mutations in CKAPL2, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome.
Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.
PubMed PMID: 25439729

Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Hum Mol Genet. 2014 Aug 15;23(16):4396-405.
PubMedID: 23131014

Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators. (Wollnik)
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75.
PubMedID: 25168959

Krones T, Koerner U, Schmitz D, et al. (Netzer)
Is the prohibition of prenatal diagnosis of late-onset diseases in the German Genetic Diagnosis Act medically, legally and ethically justified?
Eth. Med. 2014:26(1):33-46.

Roberts JM, Ennajdaoui H, Edmondson C, Wirth B, Sanford J, Chen B.
Splicing factor TRA2B is required for neural progenitor survival. 
J Comp Neurol. 2014 Feb 1;522(2):372-92. doi: 10.1002/cne.23405.
PubMed PMID: 23818142

Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ.
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10.
PubMed PMID: 23838597

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
PubMed PMID: 24123394

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 BLi 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 BBBaasner 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 LHeesen LHölker I, Bauer T, Schreml JZimmermann KThoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller RWirth 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 JRiessland MPaterno MGarbes LRoßbach KAckermann 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 NPawlik BLi 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 GPohl EBecker 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 LKeupp K, Swan D, Zimmermann KBecker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik BNetzer 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 BVolk AEBorck 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.
Springer

Yigit G, Wollnik B.
Molekulare Mechanismen des Seckel- Syndroms
Medgen. 2012; 24: 284-8.
Springer

Semler O, Hoyer-Kuhn H, Netzer C.
Osteogenesis imperfecta
Medgen. 2012; 24:297-311
Springer

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 SHauke 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 YBolz 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 YBögershausen N, Alanay Y, Simsek Kiper PO, Plume NKeupp KPohl EPawlik BRachwalski MMilz EThoenes 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 MSchreml 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 AStiller BKubisch 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 SRachwalski 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 JHeller 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 M,  Kubisch 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 BLi 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 MAckermann B, Förster AJakubik MHauke JGarbes L, Fritzsche I, Mende Y, Blümcke I, Hahnen EWirth 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 YPohl 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 YJakubik MRiessland 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 JHahnen 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 IBorck 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 YPawlik 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 JRiessland MLunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth BHahnen 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 JHahnen 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 UNetzer 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 BKubisch CNetzer 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 HJEbermann 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 LRiessland MHölker IHeller RHauke J, Tränkle C, Coras R, Blümcke I, Hahnen EWirth 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 RWirth BHeller 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

Publikationen 2004–2008
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