Wollnik Research Group

Halima Alachram
Bioinformatics Scientist

Tabea Beyer
PhD student (Medicine)

Karin Boß
Scientific coordinator

Jonas Fiedler
PhD student (Medicine)

İpek Ilgın Gönenç
PhD student

Yun Li
MD, Head of Lab

Helena Lindemann
PhD student (Medicine)

Christian Müller
Technical assistant

Leonie Naumann
PhD student (Medicine)

Tobias Scherf de Almeida
MD, PostDoc

Julia Schmidt
MD, PostDoc

Bernd Wollnik
Group leader


Our research focuses on applying different NGS-based methods to discover genetic changes that cause specific rare diseases. In a next step, we functionally analyze the implicated genes and proteins to expand our knowledge about the molecular basis and biological mechanisms underlying a given condition. Our projects are currently being supported or have been supported by the following research networks: CRANIRARE, FACE, SkelNet, CECAD, EuroMicro and CRC1002.

Specifically, we investigate the following genetic disorders and biological processes:

Syndromes with early onset of aging processes (progeria syndromes)

  • Wiedemann Rautenstrauch syndrome
  • Neonatal progeria syndromes
  • Hutchinson Gilford progeria syndrome
  • Hallermann Streiff syndrome
  • DeBarsy syndrome


  • Kabuki syndrome
  • Bosma syndrome
  • Weaver syndrome
  • Coffin Siris syndrome
  • Syndromic craniosynostoses

Primary microcephaly
(non-syndromic and syndromic)

  • Primary microcephaly (AD, AR)
  • Seckel syndrome / MOPD-I / MOPD-II
  • LIG4 syndrome
  • Bloom syndrome

Skeletal disorders

  • Osteogenesis imperfecta
  • Congenital skeletal dysplasias

Genomic instability

  • Genomic instability & heart failure / CRC1002


Primary Microcephaly

Primary microcephaly results from different genetic disorders affecting brain development and is mainly characterized by a significant reduction in the occipital-frontal head circumference and a markedly decreased brain volume. PM may occur in isolated form or as part of, for example, microcephalic primordial dwarfism (MPD).


Pro­geroid Syndromes

Progeroid syndromes are rare congenital disorders characterized by the appearance of premature or accelerated aging and the manifestation of aging-associated disorders like cardiovascular disease or cancer at a very early age. Research into progeroid syndromes, their causes and underlying mechanisms also improves our understanding of the physiological process of human aging and allows us to gain new insights into the pathogenesis of common aging-related pathologies as for example heart failure or cancer.

Hallermann Streiff Syndrome

Hallermann Streiff syndrome (HSS) is clinically characterized by brachycephaly, a small, beaked nose, hypoplastic mandible and congenital eye malformations. Additional features such as short stature, thin hair and accelerated aging may also be present. The genetic cause of HSS is not known yet. Our studies have pointed to de novo mutations in different genes as being causative of Hallermann Streiff syndrome and we are currently exploring its molecular pathogenesis in detail.


Kabuki Syndrome

Kabuki syndrome is a congenital disease associated with mental retardation, growth deficiency, organ malformations and a combination of typical facial features. De novo mutations in KMT2D or KDM6A are the main cause of Kabuki syndrome. In our studies, we showed that also RAP1A and RAP1B play a causative role in Kabuki syndrome and that mutations in these two genes and in the previously known Kabuki genes lead to changes in the MEK-ERK signaling pathway.

Weaver Syndrome

De novo dominant mutations in EZH2 have been described in patients with Weaver syndrome, an overgrowth disorder characterized by tall stature in combination with different clinical features. However, not all patients with Weaver syndrome carry EZH2 mutations. Using whole-exome sequencing, we were able to identify novel causative variants in other genes, the function of which we are currently investigating.


Bosma Syndrome

Bosma syndrome is a very exceptional disorder, with patients showing a partial or complete absence of the nose. Additional clinical features may include small eyeballs (microphthalmia) and hormonal changes. In an international collaboration with research groups from Paris and Singapore, we were now able to elucidate the molecular cause of this striking disorder.

Genomic Instability & Heart Failure / CRC1002

In this project, we address the question of whether general instability of the genome plays a critical role in the process of the aging heart and the development of heart failure and how this impacts on the function of heart muscle cells. To find this out, we use a combination of molecular studies into various heart diseases in humans and analyses in different model systems.


Publications Wollnik Research Group


Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome
Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F
Am J Med Genet A 2022 Apr 8. doi: 10.1002/ajmg.a.62742. Epub ahead of print.

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome
Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B.
Clin Genet 2022 Feb 26. doi: 10.1111/cge.14125. Epub ahead of print.

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease
Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G
Sci Rep. 2022 Mar 8;12(1):4091. doi: 10.1038/s41598-022-07874-1.

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B.
Hum Mol Genet. 2022 Jan 31:ddab373. doi: 10.1093/hmg/ddab373. Epub ahead of print.

RNF43 pathogenic Germline variant in a family with colorectal cancer
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ.
Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27.

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer
Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ
Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18.

Genomic basis of syndromic short stature in an Algerian patient cohort
Moosa S, Chentli F, Altmüller J, Bögershausen N, Nürnberg P, Yigit G, Li Y, Wollnik B
Am J Med Genet A. 2022 Feb;188(2):606-612. doi: 10.1002/ajmg.a.62532. Epub 2021 Oct 13.

Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B
Eur J Hum Genet. 2022 Feb;30(2):211-218. doi: 10.1038/s41431-021-00967-x. Epub 2021 Oct 11.


Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy
Yigit G, Wollnik B.
Medizinische Genetik 2021;33(3): 235-243. doi: 10.1515/medgen-2021-2094.

Biallelic variants in YRDC cause a developmental disorder with progeroid features
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B
Hum Genet 2021 Dec;140(12):1679-1693. doi: 10.1007/s00439-021-02347-3. Epub 2021 Sep 20.

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease
Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A
Eur J Med Genet 2021 Aug 13:104310. doi: 10.1016/j.ejmg.2021.104310. Epub ahead of print.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G
Genet Med. 2021 Jul 9. doi: 10.1038/s41436-021-01260-4. Epub ahead of print.

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K
J Med Genet 2021 Jun 25:jmedgenet-2021-107769. doi: 10.1136/jmedgenet-2021-107769. Epub ahead of print.

The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture models
Stegmann KM, Dickmanns A, Gerber S, Nikolova V, Klemke L, Manzini V, Schlösser D, Bierwirth C, Freund J, Sitte M, Lugert R, Salinas G, Meister TL, Pfaender S, Görlich D, Wollnik B, Groß U, Dobbelstein M
Virus Res 2021 Jun 3:198469. doi: 10.1016/j.virusres.2021.198469. Epub ahead of print.

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A.
Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1

Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Wade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, Cundy T.
Eur J Hum Genet. 2021 May 9. doi: 10.1038/s41431-021-00902-0. Epub ahead of print.

Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes
Peper J, Kownatzki-Danger D, Weninger G, Seibertz F, Pronto JR, Sutanto H, Pacheu Grau D, Hindmarsh R, Brandenburg S, Kohl T, Hasenfuβ G, Gotthardt M, Rog-Zielinska EA, Wollnik B, Rehling P, Urlaub H, Wegener JW, Heijman J, Voigt N, Cyganek L, Lenz C, Lehnart SE.
Circ Res. 2021 Jan 25. doi: 10.1161/CIRCRESAHA.119.316547. Epub ahead of print.

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study
Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A.
Am J Med Genet A. 2021 Jan 11. doi: 10.1002/ajmg.a.62070. Epub ahead of print.

Premature ageing disorders – a clinical and genetic compendium
Schnabel F, Kornak U, Wollnik B.
Clin Genet. 2021 Jan;99(1):3-28. doi: 10.1111/cge.13837. Epub 2020 Sep 29.


Aplasia cutis congenita in a CDC42-related developmental phenotype
Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M.
Am J Med Genet A 2020, Dec 7, doi: 10.1002/ajmg.a.62009. Online ahead of print.

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K.
Genet Med 2020, Oct 7, doi: 10.1038/s41436-020-00979-w. Online ahead of print.

Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)
Stromiedel H, Van Quekelberghe C, Yigit G, Naimi AA, Bahlmann F, Sader R, Guchlerner M, Lüchtenberg M, Latta K, Cho CH, Wollnik B, Kunzmann S.
Z Geburtshilfe Neonatol. 2020, 224(6):377-380, doi: 10.1055/a-1224-4465.

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy
Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, El-Battrawy I, Lan H, Tiburcy M, Hindmarsh R, Lenz C, Salinas G, Diecke S, Müller C, Adham I, Altmüller J, Nürnberg P, Paul T, Zimmermann WH, Hasenfuss G, Wollnik B, Cyganek L.
Circulation 2020, 142(11):1059-1076, doi: 10.1161/CIRCULATIONAHA.119.044794.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B.
Hum Genet. 2020, 139(11):1443-1454, doi: 10.1007/s00439-020-02188-6.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E.
Eur J Hum Genet. 2020, 28(10):1422-1431, doi: 10.1038/s41431-020-0654-4.

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S
Hum Genet. 2020, 139(11):1363-1379, doi: 10.1007/s00439-020-02175-x.

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia
Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, Li Y, Wollnik B, Burfeind P, Pauli S
Mol Syndromol 2020, 11:30-37, doi: 10.1159/000505797.

Human RAD50 deficiency: Confirmation of a distinctive phenotype
Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS
Am J Med Genet A 2020, 182(6):1378-1386. doi: 10.1002/ajmg.a.61570.

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes
Bork K, Zibat A, Ferrari DM, Wollnik B, Schön MP, Wulff K, Lippert U
J Dtsch Dermatol Ges 2020, 18(3):215-224. German. doi: 10.1111/ddg.14036_g.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J
Hum Mutat 2020, 41(3):591-599, doi: 10.1002/humu.23964.


The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J
Hum Mutat 2019 Dec 10

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
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, 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.
Am J Hum Genet. 2019 Sep 26

HACE1 deficiency leads to structural and functional neurodevelopmental defects
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM
Neurol Genet 2019, 5(3): e330, doi: 10.1212/NXG.0000000000000330

PEDIA: prioritization of exome data by image analysis
Hsieh T-C, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott C-E, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk E-K, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.
Genet Med 2019 Jun 5 doi: 10.1038/s41436-019-0566-2. [Epub ahead of print]

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Kalasova I, Hanzlikova H, Gupta N, Li Y, Altmüller J, Reynolds JJ, Stewart GS, Wollnik B, Yigit G, Caldecott KW.
Neurol Genet 2019 Apr;5(2):e320.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi F-Z, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A.
Nat Commun 2019 Mar 12;10(1):1180; doi: 10.1038/s41467-019-08547-w.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard M-C, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F.
Nucleic Acids Res 2019 Jan 30; doi: 10.1093/nar/gkz005 [Epub ahead of print].


Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome
Schmidt J, Wollnik B.
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):398-406.

Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature
Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B.
Balkan J Med Genet. 2018 Jun;21(1):83–6.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
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.
Genet Med. 2018 Oct 22

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.
J Med Genet. 2018 Oct 15; pii: jmedgenet-2018-105528. doi: 10.1136/jmedgenet-2018-105528.

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K.
J Med Genet. 2018 Aug 17; pii: jmedgenet-2018-105470. doi: 10.1136/jmedgenet-2018-105470.

Mutations in TOP3A cause a Bloom syndrome-like disorder
Martin C-A, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesais A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.
Am J Hum Genet. 2018 Aug 2;103(2):221–31.

Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders
Bögershausen N, Wollnik B.
Front Mol Neurosci. 2018;11:252.

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta
Rodriguez Celin M, Moosa S, Fano V.
Ann Hum Genet. 2018 Jul 24;

Moderne humangenetische Beratung: Praktische Aspekte am Beispiel der hypertrophen Kardiomyopathie
Czepluch F, Hasenfuß G, Wollnik B.
Internist 2018 Jun 25. doi: 10.1007/s00108-018-0452-z. [Epub ahead of print] Review. German.

Genetic determinants of heart failure: facts and numbers
Czepluch FS, Wollnik B, Hasenfuß G.
ESC Heart Fail 2018 Feb 19. doi: 10.1002/ehf2.12267. [Epub ahead of print]

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona M-R, Cho MT, Thiel CT, Lüdecke H-J, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A.
Am J Hum Genet 2018 Feb 5. pii: S0002-9297(18)30016-8. doi: 10.1016/j.ajhg.2018.01.014

Autosomal recessive primary microcephaly due to ASPM mutations: An update
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollni(c)k B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.
Hum Mutat 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381

2017 and before

De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction
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.
Am J Hum Genet 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P.
Am J Hum Genet 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.

Catecholamine-dependent β-adrenergic signaling in a pluripotent stem cell model of Takotsubo cardiomyopathy
Borchert T, Hübscher D, Guessoum CI, Lam TD, Ghadri JR, Schellinger IN, Tiburcy M, Liaw NY, Li Y, Haas J, Sossalla S, Huber MA, Cyganek L, Jacobshagen C, Dressel R, Raaz U, Nikolaev VO, Guan K, Thiele H, Meder B, Wollnik B, Zimmermann WH, Lüscher TF, Hasenfuss G, Templin C, Streckfuss-Bömeke K.
J Am Coll Cardiol 2017 Aug 22;70(8):975-991. doi: 10.1016/j.jacc.2017.06.061.

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

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J.
Hum Mol Genet 2017 May 4. doi: 10.1093/hmg/ddx175. [Epub ahead of print]

Genetische Diagnostik bei Kardiomyopathien
Czepluch F, Wollnik B, Hasenfuß G.
Dtsch Med Wochenschr 2017 May;142(9):657-664. doi: 10.1055/s-0042-112183.

Wiedemann-Rautenstrauch syndrome: A phenotype analysis
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC.
Am J Med Genet A 2017 Apr 26. doi: 10.1002/ajmg.a.38246. [Epub ahead of print]

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.
Hum Genet 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann AP, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D.
Hum Genet 2017 Apr 9. doi: 10.1007/s00439-017-1795-6. [Epub ahead of print]

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I.
Am J Med Genet Part A 2017, 173A:1102–110, doi: 10.1002/ajmg.a.38116

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum
Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I.
Clin Genet 2017 Mar 30, doi: 10.1111/cge.12990. [Epub ahead of print]

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
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.
Nat Genet 2017 Feb 13. doi: 10.1038/ng.3790. [Epub ahead of print]

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
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.
Nat Genet 2017 49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit G, Wollnik B.
Am J Med Genet A 2017 Jan;173(1):264-267. doi: 10.1002/ajmg.a.37999. Epub 2016 Oct 18.

A thanatophoric dysplasia type I case with a FGFR3 p.R248C mutation and survival beyond the neonatal period
Sahin S, Ograg H, Atas Aslan E, Akcan AB, Kaynak Turkmen M, Moosa S and Elcioglu NH
Genetic Counseling 2016, 27(4):513-515.

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B
Am J Med Genet A 2016 Aug 17. doi: 10.1002/ajmg.a.37931. [Epub ahead of print]

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Nürnberg P.
Biol Chem 2016, 397(8):791-801. doi: 10.1515/hsz-2015-0300. [Epub ahead of print]

Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Sang KL, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Donato ND, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
Hum Mutat 2016. doi: 10.1002/humu.23026. [Epub ahead of print]

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Boppudi S, Bögershausen N, Hove HB, Ferda Percin E, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lißewski C, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M..
Clin Genet 2016. doi: 10.1111/cge.12775. [Epub ahead of print].

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.
Am J Med Genet A 2016. doi: 10.1002/ajmg.a.37771. [Epub ahead of print].

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
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, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, and Jackson AP.
Nat Genet 2016, 48(1):36-43. doi: 10.1038/ng.3451 [Epub 2015 Nov 23].

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit
Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M.
eLife 2016. doi: 10.7554/eLife.14277.

Polyhydramnios, transient antenatal Bartter’s Syndrome, and MAGED2 mutations
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.
N Engl J Med 2016, 374(19):1853-63. doi: 10.1056/NEJMoa1507629.

Altered FGF signalling in congenital craniofacial and skeletal disorders
Moosa S, Wollnik B.
Semin Cell Dev Biol 2016. 53:115-25. doi: 10.1016/j.semcdb.2015.12.005. Epub 2015 Dec 11. Review.

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Nishimura G, Wollnik B.
Am J Med Genet A 2016. doi: 10.1002/ajmg.a.37823. [Epub ahead of print]

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B.
Am J Med Genet A 2016, 170(5):1295-301. doi: 10.1002/ajmg.a.37570. [Epub ahead of print]

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, and Wollnik B.
Am J Med Genet A 2016, 170(3):728-33. doi: 10.1002/ajmg.a.37484.

CRIM1 haploinsufficiency causes defects in eye development in human and mouse
Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B.
Hum Mol Genet 2015, 24(8):2267-73. doi: 10.1093/hmg/ddu744.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
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.
J Clin Invest 2015, 125(9):3585-99. doi: 10.1172/JCI80102.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
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.
Hum Genet 2015, 134(6):553-68. doi: 10.1007/s00439-015-1535-8.

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
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.
Am J Hum Genet 2015, 96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002.

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, Boduroglu K.
Am J Med Genet A 2015, 167A(4):919-21. doi: 10.1002/ajmg.a.36955.

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta
Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B.
Clin Genet 2015. doi: 10.1111/cge.12678. [Epub ahead of print].

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G.
Hum Mol Genet 2015, 24(13):3708-17. doi: 10.1093/hmg/ddv115.

Mutations in CDK5RAP2 cause Seckel syndrome
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 C and Wollnik B.
Mol Genet Genomic Med 2015, 3(4):1-14. doi: 10.1002/mgg3.158.

Molekulare Grundlagen der autosomal-rezessiven primären Mikrozephalie
Yigit G, Rosin N, Wollnik B.
Medgen 2015, 27:343-350. doi: 10.1007/s11825-015-0068-9.

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset
Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C.
J Bone Miner Res 2014, 29(6):1387-91. doi: 10.1002/jbmr.2156.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome
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 J, 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.
Am J Hum Genet 2014, 95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008.

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.
Am J Med Genet C Semin Med Genet 2014, 166C(3):262-75. doi: 10.1002/ajmg.c.31407.

Extreme growth failure is a common presentation of ligase IV deficiency
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.
Hum Mutat 2014, 35(1):76-85.

CHARGE and Kabuki syndromes: a phenotypic and molecular link
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
Hum Mol Genet 2014, 23(16):4396-405. doi: 10.1093/hmg/ddu156.

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyl-transferases
Bögershausen N, Bruford E, Wollnik B.
Clin Genet 2013, 83:212-214.

Response to Diaz
Bögershausen N, Bruford E, Wollnik B.
Clin Genet 2013, 83: 296.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability
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.
Am J Hum Genet 2013, 93:181-190.

Unmasking Kabuki syndrome
Bögershausen N, Wollnik B.
Clin Genet 2013, 83:201-211.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
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.
Hum Genet 2013, 132:885-898.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
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.
Mol Genet Metab 2013, 110(3):352-61.

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
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.
PLoS One 2013, 8(11):e78496.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
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.
Hum Mol Genet 2013, 22(25):5199-214.

Severe Cenani-Lenz syndrome caused by loss of LRP4 function
Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RC, Wollnik B.
Am J Med Genet A 2013, 161:1475-1479.

A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation
Volk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D.
Audiol Neurootol 2013, 18(3):192-9. doi: 10.1159/000350246.

Mutations in WNT1 cause different forms of bone fragility
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, Caparros-Martin 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.
Am J Hum Genet 2013, 92:565-574.

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
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.
Mol Genet Genomic Med 2013, 1(4):223-37. doi: 10.1002/mgg3.28.

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
Pohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar Onay M, Yigit G, Ozkinay F, Wollnik B.
Hum Genet 2013, 132:1311-1320.

Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen
Rachwalski M, Wollnik B, Kress W.
Medgen 2013, 25:373-387. doi: 10:1007/s11825-013-0412-x.

Activating somatic FGFR2 mutations in breast cancer
Reintjes N, Li Y, Becker A, Rohmann E, Schmutzler R, Wollnik B.
PLoS One 2013, 8(3):e60264.

Coffin-Siris syndrome
Schrier Vergano S, Santen G, Wieczorek D, Wollnik B, Matsumoto N, and Deardorff MA.
Gene Reviews 2013, Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
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 PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay 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.
Hum Mol Genet 2013, 22(25):5121-35.

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
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.
J Med Genet 2013, 50(12):838-47.0(12):838-47.

Attenuated BMP1 function compromises osteogenesis leading to bone fragility in human and zebrafish
Asharani PV, Keupp K, Li Yun, Wang WS, Semler O, Thiele H, Becker J, Frommolt P, Sonntag C, Greenspan DS, Schönau E, Nürnberg P, Hammerschmidt M, Wollnik B*, Carney TJ*.
Am J Hum Genet 2012, 90:661-674.

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

A mutation in the 5´-untranslated region of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus
Semler O Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander S, Wollnik B, Netzer C.
Am J Hum Genet 2012, 91:349-357.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss
von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.
Am J Hum Genet 2012, 91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002.

Progeroide Erkrankungen und ihre Mechanismen
Wollnik B, Kornak U.
Medgen 2012, 24:253-256. doi: 10:1007/s11825-012-0350-z.

Molekulare Mechanismen des Seckel-Syndroms
Yigit G, Wollnik B.
Medgen 2012, 24:284-288. doi: 10:1007/s11825-012-0359-3.

A large duplication of the IHH locus mimics acrocallosal syndrome
Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner ZO, Nürnberg G, Karaman B, Gülgören A, Nürnberg P, Kayserili H, Wollnik B.
Eur J Hum Genet 2012, 20:639-644.

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

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
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.
Am J Hum Genet 2011, 88(2):127-37.

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C.
Hum Genet 2011, 129:45-50.

Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus
Frenzel LP, Claus R, Plume N, Schwamb J, Konermann C, Pallasch CP, Claasen J, Brinker R, Wollnik B, Plass C, Wendtner CM.
Int J Cancer 2011, 128:2495-500.

CEP152 is a novel genome-maintenance protein and its disruption causes genomic instability in Seckel syndrome
Kalay E, Yigit G, Aslan Y, Brown KE, Li Y, Pohl E, Bicknell L, Kayserili H, Tüysüz B, Nürnberg N, Kiess W, Baessmann I, Buruk K, Kul S, Ikbal M, Taylor MS, Aerts J, Scott C, Dollfuss H, Wieczorek D, Brunner HG, Rauch A, Nürnberg P, Hurles M, Jackson AP, Karagüzel A, Wollnik B.
Nat Genet 2011, 43:23-26.

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

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

A mutation screen in patients with Kabuki syndrome
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
Hum Genet 2011, 130:715-724.

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

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling
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.
Am J Hum Genet 2010, 87(6):757-67.

First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis
Li Y, Pabst S, Kubisch C, Grohé C, Wollnik B.
Thorax 2010, 65:939-940.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg 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, Nurnberg P, Herz J, Temtamy SA, Wollnik B.
Am J Hum Genet 2010, 86:696-706.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss
Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, and Wollnik B.
Am J Hum Genet 2010, 86:479-484.

A novel namilial BBS12 mutation associated with a mild phenotype: Implications for clinical and molecular diagnostic strategies
Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B.
Mol Syndromol 2010, 1:27-34.

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
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, and Akarsu NA.
Am J Hum Genet 2010, 86:789-796.

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
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, and Wollnik B.
Hum Mutat 2010, 31:81-89.

A common mechanism for microcephaly
Wollnik B.
Nat Genet 2010, 42: 923-924.

CYP21A2 gene mutations in congenital adrenal hyperplasia: Genotype-phenotype correlation in Turkish children
Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
J Clin Res Pediatr Endocrinol 2009, 1:116-28.

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
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C.
Hum Mutat 2009, 30:641-648.

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

A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D
Elçioglu NH, Pawlik B, Colak B, Beck M, Wollnik B.
Genet Couns 2009, 20:133-9.

ALX4 dysfunction disrupts craniofacial and epidermal development
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.
Hum Mol Genet 2009, 18, 4357-4366.

Extended genetic analysis of BTNL2 in sarcoidosis
Li Y, Pabst S, Lokhande S, Grohé C, Wollnik B.
Tissue Antigens 2009, 73:59-61.

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
Nahum S, Pasternack SM,·Pforr J, Indelman M, Wollnik B, Bergman R,·Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E.
Arch Dermatol Res 2009, 301(5):391-3. doi: 10.1007/s00403-008-0903-9.

Mutations in PYCR1 cause cutis laxa with progeroid features
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham P-Y, 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.
Nat Genet 2009, 41: 1016-1021.

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
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.
Hum Mutat 2009, 30:1667-75.

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A.
Am J Med Genet Part A 2008, 146A:3086–3089.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MAJ, Fluiter K , te Beek E, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RCM, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.
Nat Genet 2008, 40: 1113-1138.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H.
Am J Hum Genet 2008, 82:125-138.

Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor
Hasdemir C, Ayding HH, Sahin S, Wollnik B.
Anadolu Kardiyol Derg 2008, 8: E30-6.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen M, Goossens D, Favero J, Sanati M, Smith R, Van Camp G..
Clin Genet 2008, 74:223-232.

Novel p.R229G missense mutation in the FRMD7 gene causes X-linked idiopathic congenital nystagmus linked to Xq26-q27
Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA.
Br J Ophthalmol 2008, 92: 135-131.

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2.5 in a large family with autosomal-dominant inherited congenital heart disease
Pabst S, Wollnik B, Rohmann E, Hintz Y, Grohé C.
Clin Res Cardiol 2008, 47:39-42.

Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen TA, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P, Wollnik B, Krawczak M, Labuda D, Utermann G.
J Med Genet 2008, 45:200-209.

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C.
Circulation 2007, 115, 442-449.

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

Involvement of DFNB59 mutations in autosomal recessive non-syndromic hearing impairment
Collin RW, Kalay E, Oostrik J, Çaylan R, Wollnik B, Arslan S, den Hollander A, Birinci Y, Strom TM, Lichtner P, Toraman B, Hoefsloot LH, Cremers CWR, Brunner HG, Cremers FP, Karaguzel A, Kremer H.
Hum Mutat 2007, 28: 718-723.

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nürnberg G, Usala U, Uda M, Masala M, Höhne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese R, Jakobs C, Kurlemann G, Cao A, Nürnberg P, Rutsch F.
Am J Hum Genet 2007, 80:971-81.

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

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
Kalay E, Uzumcu A, Krieger E, Çaylan R, Uyguner O, Ulubil-Emiroglu M, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran A, Brunner HG, Cremers CW, Karagüzel A, Wollnik B, Kremer H.
Am J Med Genet 2007, 143: 2382-2389.

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation
Lew E, Bae JH, Rohmann E, Wollnik B, Schlessinger J.
Proc Natl Acad Sci U S A. 2007, 104: 19802-19807.

LADD syndrome is caused by reduced activity of the FGF10-FGF receptor 2 signaling pathway
Shams I, Rohmann E, Eswarakumar VP, Lew E, Yuzawa S, Wollnik B, Schlessinger J, Irit L.
Mol Cell Biol 2007, 27: 6903-6912.

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3
Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies HC, Becker C, Nürnberg P, Basaran S, Yüksel Apak M, Wollnik B.
Clin Genet 2007, 71:212-219.

Phenotype reveals genotype in a Greek long QT syndrome family
Anastasakis A, Kotta CM, Kyriakogonas S, Wollnik B, Theopistou A, and Stefanadis C.
Europace 2006, 8: 241–244. doi: 10.1093/europace/eul012.

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin R, Caylan R, Ulubil-Emeroglu M, Kersten F, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot L, Strom T, Nürnberg G, Baserer N, Hollander A, Cremers F, Cremers C, Becker C, Brunner H, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.
Hum Mutat 2006, 27: 633-639.

BTNL2 gene variant and sarcoidosis
Li Y, Wollnik B, Pabst S, Lennarz M, Rohmann E, Gillissen A, Vetter H, Grohé C.
Thorax 2006, 61:273-274.

Mutations in different components of FGF signalling in LADD syndrome
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers JWRJ, Yuksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B.
Nat Genet 2006, 38:414-417.

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome
Uyguner O, Siva A, Kayserili H, Saip S, Tasyurekli M, Apak MY, Isik N, Yilmaz, Akman-Deniz G, Albayram S, Altintas A, Oz B, Wollnik B.
J Neurol Sci 2006, 246:123-130.

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B.
J Med Genet 2006, 43:e05.

A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification
Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E.
Hum Genet 2005, 118: 261-266.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H.
J Mol Med 2005, 83: 1025-1032.

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

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

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

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

Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss
Duzcan F, Wollnik B, Tepeli E, Ardic FN, Uyguner O, Bagci H.
Kulak Burun Bogaz Ihtis Derg 2003, 11: 85-8.

A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family
Karaman B, Wollnik B, Ermis H, Yüksel-Apak M, Basaran S.
Prenat Diagn 2003, 23: 336-339.

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
Paznekas W.A., Boyadjiev S.A., Shapiro R.E., Daniels O.,Wollnik B., Keegan C.E., Innis J.W., Dinulos M.B., Christian C., Hannibal M.C., Wang Jabs E.
Am J Hum Genet 2003, 72: 408-418.

A novel semi-quantitative PCR/enzyme digestion method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency
Tükel T, Uyguner O, Wei J Q, Bas F, Song DX, Kayserili H, Saka N, Günöz H, Wilson RC, New MI, Yüksel-Apak M, Wollnik B.
J Clin Endocrinol Metab 2003, 88: 5893-7.

Frequencies of gap- and tight- junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
Uyguner O, Emiroglu M, Üzümcü A, Hafiz G, Ghanbari A, Baserer N, Yüksel-Apak M, Wollnik B.
Clin Genet 2003, 64: 65-69.

Molecular analysis of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58f mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations
Uyguner O, Goicoechae de J, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yüksel-Apak M, Rodriguez de C, Wollnik B.
J Inherit Metab Dis 2003, 26: 17-23.

Arrhthmogenic right ventriuclar dysplasia: Clinical findings in families
Wollnik B, Diri T, Uyguner O, Karaarslan E, Ghanbari A, Adalet K, Ertugrul T, Yüksel Apak M, Dindar A.
Türk Kardiyoloji Dernegi Arsivi 2003, 3: 88-95.

Homozygous and heterozygouys inheritance of PAX3 mutations causes different types of Waardenburg Syndrome
Wollnik B, Tükel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yüksel Apak M.
Am J Med Genet 2003, 122: 42-45.

Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms
Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW.
Cytogenet Genome Res 2002, 98: 29-37.

Autsomal dominant progressive optic atrophy and sensorineural hearing loss in a Turkish family
Ozden S., Duzcan F., Wollnik B., Sahiner T., Bayramoglu I., Yuksel-Apak M., Bagci H.
Ophthalmic Genet 2002, 23: 29-36.

The antihistamine fexofenadine does not affect IKr currents in a case report of drug-induced cardiac arrhythmia
Scherer CR, Lerche C, Dennis AT, Maier P, Ficker E, Pinto YM, Busch AE, Wollnik B, Steinmeyer K.
British Journal of Pharmacology 2002, 137: 892-900.

CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor
Utku U., Celik Y., Uyguner O., Yüksel-Apak M., Wollnik B.
Eur J Neuro 2002, 9: 23-28.

Cx26 geninde 35delG mutasyon analizinin non-sendromik kalitsal sagirlikta tani testi olarak kullanilmasi
Uyguner O, Ulubil-Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.
Istanbul Tip Mecmuasi 2002, 65: 2-5.

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
Uyguner O., Tukel T., Baykal C., Emiroglu M., Hafiz G., Ghanbari A., Baserer N., Yuksel-Apak M, Wollnik B.
Clin Genet 2002, 62: 306-9.

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family
Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M.
Ann Genet 2002, 98: 29-37.

hKChIP is a functional modifier of hKV4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant
Decher N, Uyguner O, Scherer C, Karaman B, Yüksel-Apak M, Busch A, Steinmeyer K, Wollnik B.
Cardiovasc Res 2001, 52: 255-264.

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, Frantz E, Fleck E, Hetzer R, Regitz-Zagrosek V.
J Am Coll Cardiol 2001, 38: 322-330.

Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene
Jakubiczka S, Bettecken T, Koch G, Tüysüz B, Wollnik B, Wieacker P.
Clin Dysmorphol 2001, 10: 197-201.

Establishment of non radioactive molecular diagnosis of fragile X syndrome
Uyguner O, Wollnik B, Kayserili H, Tukel T, Basaran S, Apak MY.
Turk J Med Scien 2000, 14: 384-389.

Activation and inactivation of homomeric KvLQT1 potassium channels
Pusch M, Magrassi M, Wollnik B, Coni F.
Biophys J 1998, 75: 785-792.

Identification of functionally important regions of the muscular chloride channel CLC-1 by analysis of recessive and dominant myotonic mutations
Wollnik B, Kubisch C, Steinmeyer K, Pusch M.
Hum Mol Genet 1997, 6: 805-811.

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias
Wollnik B, Schroeder B, Kubisch HD, Esperer H, Wieacker P, Jentsch TJ.
Hum Mol Genet 1997, 6: 1923-1929.

Hormonal induction of an immediate-early gene response in myogenic cell lines – a paradigm for heart growth
Maass A, Grohe C, Kubisch C, Wollnik B, Vetter H, Neyses L.
Eur Heart J 1995, 16: 12-14.

Clinical and genetical aspects of the long QT syndrome
Wollnik B, Guicheney P.
Herz 1994, 19: 126-132.

Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes
Kubisch C, Wollnik B, Maass A, Meyer R, Vetter H, Neyses L.
FEBS Letters 1993, 335: 37-40.

Hyperosmotic stress induces immediate-early gene expression in ventricular adult cardiomyocytes
Wollnik B, Kubisch C, Maass A, Vetter H, Neyses L.
Biochem Biophys Res Commun 1993, 194: 642-646.

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