AG Wollnik

Nina Bögershausen
Ärztin, Post­doktorandin

Karin Boß
Wissenschafts­koordinatorin

Yun Li
Arzt, Labor­leiter

Shahida Moosa
Fachärztin, PhD-Doktorandin

Christian Müller
Technischer Assistent

Inka Praulich
Postdoktorandin

Nadine Rosin
PhD-Doktorandin

Lukasz Smorag
Postdoktorand

Alicja Turotszy
PhD-Doktorandin

Bernd Wollnik
Arbeitsgruppenleiter

Schwerpunkte

Projekte

Publikationen

Schwerpunkte

Unser Ziel ist es, mittels NGS-basierter Methoden die ursächlichen genetischen Veränderungen bei verschiedenen seltenen Er­krankungen zu identi­fizieren und durch anschließende funktionelle Unter­suchungen dazu beizutragen, die molekularen Grundlagen und biologischen Mechanismen dieser Erkrankungen besser zu verstehen. Diese Projekte werden/wurden u.a. durch folgende wissen­schaftliche Netzwerke unterstützt: CRANIRARE, FACE, SkelNet, CECAD, EuroMicro und den SFB1002.

Im Besonderen erforschen wir die folgenden erblichen Erkrankungen und deren biologische Prozesse:

Syndrome mit frühzeitig einsetzenden Alterungsprozessen (sog. Progerie-Syndrome)

  • Wiedemann-Rautenstrauch-Syndrom
  • Neonatale Progerie-Syndrome
  • Hutchinson-Gilford-Progerie Syndrom
  • Hallermann-Streiff-Syndrom
  • DeBarsy-Syndrom

Kraniofaziale Malformationen

  • Kabuki-Syndrom
  • Bosma-Syndrom
  • Weaver-Syndrom
  • Coffin-Siris-Syndrom
  • Syndromale Kraniosynostosen

Primäre Mikrozephalien (nicht-syndromal und syndromal)

  • Primäre Mikrozephalie (AD, AR)
  • Seckel-Syndrom / MOPD-I / MOPD-II
  • LIG4-Syndrom
  • Bloom-Syndrom

Skeletterkrankungen

  • Osteogenesis Imperfecta
  • Erbliche Skelettdysplasien

Genomische Instabilität & Herzinsuffizienz

Projekte

Primäre Mikro­zephalien

(nicht syndromal und syndromal)

Die primäre Mikro­zephalie (PM) ist das Resultat verschiedener genetisch bedingter Entwicklungs­störungen des Gehirns und im Wesentlichen gekennzeichnet durch einen bereits bei der Geburt stark verminderten occipito-frontalen Kopfumfang und ein deutlich verringertes Gehirn­volumen.

Weitere Informationen

Pro­geroide Syndrome

Progeroide Syndrome sind seltene ange­borene Er­krankungen, die durch Anzeichen vorzeitiger bzw. be­schleunigter Alterung und bereits in frühen Jahren auftretende alter­sassoziierte Krank­heiten wie Herz­erkrankungen oder Krebs gekenn­zeichnet sind. Durch die Erforschung von pro­geroiden Syndromen, ihrer Ursachen und zugrunde­liegenden molekularen Mechanismen gewinnen wir auch Einblicke in den natürlichen Alterungs­vorgang beim Menschen und Einsichten über die Patho­genese häufiger alters­assoziierter Er­krankungen wie Herz­insuffizienz oder Krebs.

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Hallermann-Streiff-Syndrom

Das Hallermann-Streiff-Syndrom (HSS) ist klinisch gekennzeichnet durch eine Brachyzephalie, eine kleine gebogene Nase, einen kleinen Unterkiefer und angeborene Augenfehlbildungen. Kleinwuchs, dünnes Haar und beschleunigte Alterung sind zusätzliche Merkmale des HSS. Die genetische Ursache ist nicht bekannt. Wir haben nun erste Hinweise darauf, dass de novo Mutationen in unterschiedlichen Genen das Hallermann-Streiff-Syndrom verursachen können und wir untersuchen momentan im Detail die molekulare Pathogenese dieser Erkrankung.

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Kabuki-Syndrom

Das Kabuki-Syndrom ist eine angeborene Erkrankung, welche mit geistiger Behinderung, Wachstumsretardierung, Organfehlbildungen und einer typischen Kombination auffälliger Gesichtsmerkmale einhergeht. Die Erkrankung wird hauptsächlich durch de novo Mutationen in den Genen KMT2D oder KDM6A verursacht. Wir konnten zeigen, dass auch die Gene RAP1A und RAP1B ursächlich an der Entstehung des Kabuki-Syndroms beteiligt sind und dass Mutationen in diesen und den bereits bekannten Kabuki-Genen Veränderungen im MEK-ERK-Signalweg verursachen.

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Weaver-Syndrom

De novo dominante Mutationen in EZH2 sind bei Patienten mit Weaver-Syndrom, einem Großwuchs-Syndrom mit verschiedenen klinischen Symptomen, beschrieben. Allerdings können EZH2-Mutationen nicht bei allen Patienten mit Weaver-Syndrom nachgewiesen werden. Mittels Exom-Sequenzierung konnten wir neue ursächliche Krankheitsgene identifizieren, deren Funktion wir nun untersuchen.

Weitere Informationen

Bosma-Syndrom

Hierbei handelt es sich um ein ganz außergewöhnliches Syndrom, da bei Patienten mit Bosma-Syndrom die Entwicklung der Nase nicht oder nur unvollständig stattgefunden hat. Zusätzliche klinische Merkmale können u.a. kleine Augen (Mikrophthalmie) und Hormonveränderungen sein. Im Rahmen einer internationalen Studie mit wissenschaftlichen Gruppen aus Paris und Singapur ist es uns gelungen, die molekulare Ursache zu entschlüsseln.

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Genomische In­stabilität & Herz­insuffizienz / SFB1002

In diesem Projekt gehen wir der Frage nach, ob eine allgemeine Instabilität des Genoms bei der Alterung des Herzens und dem Auftreten einer Herzinsuffizienz eine maßgebliche Rolle spielt und welche funktionellen Veränderungen sich für Herzmuskelzellen daraus ergeben. Hierzu kombinieren wir molekulare Untersuchungen an unterschiedlichen Herzerkrankungen des Menschen mit Analysen in verschiedenen Modellsystemen.

Weitere Informationen

Publikationen AG Wollnik

2016

2015

2014

2013

2012

2011 und früher

2016

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].
Open Access

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.
Open Access

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.

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.

2015

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.
Open Access

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.
Open Access

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.
Open Access

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].

Altered FGF signalling in congenital craniofacial and skeletal disorders
Moosa S, Wollnik B.
Semin Cell Dev Biol 2015. doi: 10.1016/j.semcdb.2015.12.005. [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.
Open Access      

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.   
Open Access

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.

2014
 

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.    
Open Access

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.  
Open Access

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.    
Open Access

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.
Open Access

2013

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

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.  
Open Access

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.      
Open Access

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.  
Open Access

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.  

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.    
Open Access

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.
Open Access

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.    
Open Access

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.  
Open Access

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.      
Open Access

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.

2012

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.   
Open Access

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.   
Open Access

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.  
Open Access

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.
Open Access

2011 und früher

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.      
Open Access

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.
Open Access

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.  
Open Access

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.
Open Access

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.
Open Access

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.   
Open Access

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.   
Open Access

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.
Open Access

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.
Open Access

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.   
Open Access

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.    
Open Access

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.
Open Access

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.   
Open Access

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.  
Open Access

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.   
Open Access

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.    
Open Access

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.  
Open Access

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.
Open Access

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.   
Open Access

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.    
Open Access

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.  
Open Access

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.   
Open Access

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.       
Open Access

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.    
Open Access

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.    
Open Access

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.      
Open Access

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.   
Open Access

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.    
Open Access

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.      
Open Access

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.   
Open Access

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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