Prof. Dr. Bernd Wollnik

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unigoe
 

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  • 2016 | Journal Article | Research Paper
    ​ ​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, P. Ö. et al.​ (2016) 
    Human Mutation, 37(9) pp. 847​-864​.​ DOI: https://doi.org/10.1002/humu.23026 
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  • 2016 | Journal Article | Research Paper
    ​ ​Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum​
    Moosa, S. ; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Fano, V. & Wollnik, B. ​ (2016) 
    American Journal of Medical Genetics, 170(5) pp. 1295​-1301​.​ DOI: https://doi.org/10.1002/ajmg.a.37570 
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  • 2016 | Journal Article | Research Paper
    ​ ​TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​
    Harley, M. E.; Murina, O.; Leitch, A.; Higgs, M. R.; Bicknell, L. S.; Yigit, G.   & Blackford, A. N. et al.​ (2016) 
    Nature Genetics, 48(1) pp. 36​-+​.​ DOI: https://doi.org/10.1038/ng.3451 
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  • 2016 | Journal Article | Research Paper
    ​ ​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.​ (2016) 
    Biological Chemistry, 397(8) pp. 791​-801​.​ DOI: https://doi.org/10.1515/hsz-2015-0300 
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  • 2016 | Journal Article | Research Paper
    ​ ​Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis​
    Boppudi, S.; Bögershausen, N.; Hove, H. B.; Percin, E. F.; Aslan, D.; Dvorsky, R. & Kayhan, G. et al.​ (2016) 
    Clinical Genetics, 90(4) pp. 334​-342​.​ DOI: https://doi.org/10.1111/cge.12775 
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  • 2016 | Journal Article | Research Paper
    ​ ​A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​
    Yigit, G. ; Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Moeller-Hartmann, C.; Altmüller, J. & Thiele, H. et al.​ (2016) 
    American Journal of Medical Genetics, 170(3) pp. 728​-733​.​ DOI: https://doi.org/10.1002/ajmg.a.37484 
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  • 2015 | Journal Article | Research Paper
    ​ ​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, M. J. et al.​ (2015) 
    American journal of human genetics, 96(3) pp. 432​-439​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.01.002 
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  • 2015 | Journal Article | Research Paper
    ​ ​Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​
    Rosin, N. ; Elcioglu, N. H.; Beleggia, F.; Isguven, P.; Altmüller, J.; Thiele, H. & Steindl, K. et al.​ (2015) 
    Human Molecular Genetics, 24(13) pp. 3708​-3717​.​ DOI: https://doi.org/10.1093/hmg/ddv115 
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  • 2015 | Journal Article | Research Paper
    ​ ​Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes​
    Bramswig, N. C.; Luedecke, H.-J.; Alanay, Y.; Albrecht, B.; Barthelmie, A.; Boduroglu, K. & Braunholz, D. et al.​ (2015) 
    Human Genetics, 134(6) pp. 553​-568​.​ DOI: https://doi.org/10.1007/s00439-015-1535-8 
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  • 2015 | Journal Article | Research Paper
    ​ ​CRIM1 haploinsufficiency causes defects in eye development in human and mouse​
    Beleggia, F.; Li, Y. ; Fan, J.; Elcioglu, N. H.; Toker, E.; Wieland, T. & Maumenee, I. H. et al.​ (2015) 
    Human Molecular Genetics, 24(8) pp. 2267​-2273​.​ DOI: https://doi.org/10.1093/hmg/ddu744 
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  • 2015 | Journal Article | Research Paper
    ​ ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​
    Boegershausen, N.; Tsai, I.-C.; Pohl, E.; Kiper, P. O. S.; Beleggia, F.; Percin, E. F. & Keupp, K. et al.​ (2015) 
    Journal of Clinical Investigation, 125(9) pp. 3585​-3599​.​ DOI: https://doi.org/10.1172/JCI80102 
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  • 2014 | Journal Article | Research Paper
    ​ ​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. et al.​ (2014) 
    Journal of Bone and Mineral Research, 29(6) pp. 1387​-1391​.​ DOI: https://doi.org/10.1002/jbmr.2156 
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  • 2014 | Journal Article | Research Paper
    ​ ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​
    Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al.​ (2014) 
    American journal of human genetics, 95(5) pp. 622​-632​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.008 
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  • 2014 | Journal Article | Research Paper
    ​ ​Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency​
    Murray, J. E.; Bicknell, L. S.; Yigit, G. ; Duker, A. L.; van Kogelenberg, M.; Haghayegh, S. & Wieczorek, D. et al.​ (2014) 
    Human Mutation, 35(1) pp. 76​-85​.​ DOI: https://doi.org/10.1002/humu.22461 
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  • 2014 | Journal Article | Research Paper
    ​ ​CHARGE and Kabuki syndromes: a phenotypic and molecular link​
    Schulz, Y.; Freese, L.; Maenz, J.; Zoll, B. ; Voelter, C.; Brockmann, K.   & Boegershausen, N. et al.​ (2014) 
    Human Molecular Genetics, 23(16) pp. 4396​-4405​.​ DOI: https://doi.org/10.1093/hmg/ddu156 
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  • 2013 | Journal Article | Research Paper
    ​ ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​
    Hussain, M. S.; Baig, S. M.; Neumann, S.; Peche, V. S.; Szczepanski, S.; Nürnberg, G. & Tariq, M. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5199​-5214​.​ DOI: https://doi.org/10.1093/hmg/ddt374 
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  • 2013 | Journal Article | Research Paper
    ​ ​Mutations in WNT1 Cause Different Forms of Bone Fragility​
    Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A. M.; Steiner, M.; Semler, O. & Fischer, B. et al.​ (2013) 
    American journal of human genetics, 92(4) pp. 565​-574​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.02.010 
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  • 2013 | Journal Article | Research Paper
    ​ ​A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​
    Pohl, E.; Aykut, A.; Beleggia, F.; Karaca, E.; Durmaz, B.; Keupp, K. & Arslan, E. et al.​ (2013) 
    Human Genetics, 132(11) pp. 1311​-1320​.​ DOI: https://doi.org/10.1007/s00439-013-1337-9 
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  • 2013 | Journal Article | Research Paper
    ​ ​Activating Somatic FGFR2 Mutations in Breast Cancer​
    Reintjes, N.; Li, Y. ; Becker, A.; Rohmann, E.; Schmutzler, R. & Wollnik, B. ​ (2013) 
    PLoS ONE, 8(3) art. e60264​.​ DOI: https://doi.org/10.1371/journal.pone.0060264 
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  • 2013 | Journal Article | Research Paper
    ​ ​Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome​
    Czeschik, J. C.; Voigt, C.; Alanay, Y.; Albrecht, B.; Avci, S.; FitzPatrick, D. & Goudie, D. R. et al.​ (2013) 
    Human Genetics, 132(8) pp. 885​-898​.​ DOI: https://doi.org/10.1007/s00439-013-1295-2 
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  • 2013 | Journal Article | Research Paper
    ​ ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​
    Boegershausen, N.; Shahrzad, N.; Chong, J. X.; von Kleist-Retzow, J.-C.; Stanga, D.; Li, Y.   & Bernier, F. P. et al.​ (2013) 
    American journal of human genetics, 93(1) pp. 181​-190​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.028 
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  • 2013 | Journal Article | Research Paper
    ​ ​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, A. O.; Decker, C.; Preising, M. N.; Friedburg, C. & Bieg, A. et al.​ (2013) 
    PLoS ONE, 8(11) art. e78496​.​ DOI: https://doi.org/10.1371/journal.pone.0078496 
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  • 2013 | Journal Article | Research Paper
    ​ ​Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function​
    Kariminejad, A.; Stollfuss, B.; Li, Y. ; Boegershausen, N.; Boss, K.; Hennekam, R. C. M. & Wollnik, B. ​ (2013) 
    American Journal of Medical Genetics, 161A(6) pp. 1475​-1479​.​ DOI: https://doi.org/10.1002/ajmg.a.35920 
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  • 2013 | Journal Article | Research Paper
    ​ ​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. et al.​ (2013) 
    Journal of Medical Genetics, 50(12) pp. 838​-847​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-101918 
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  • 2013 | Journal Article | Research Paper
    ​ ​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.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y.   & Milz, E. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5121​-5135​.​ DOI: https://doi.org/10.1093/hmg/ddt366 
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  • 2013 | Journal Article | Research Paper
    ​ ​Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​
    Dimopoulou, A.; Fischer, B.; Gardeitchik, T.; Schroeter, P.; Kayserili, H.; Schlack, C. & Li, Y.  et al.​ (2013) 
    Molecular Genetics and Metabolism, 110(3) pp. 352​-361​.​ DOI: https://doi.org/10.1016/j.ymgme.2013.08.009 
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  • 2012 | Journal Article | Research Paper
    ​ ​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.​ (2012) 
    Genetic Counseling, 23(2) pp. 281​-287​.​
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  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in the 5 '-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus​
    Semler, O.; Garbes, L.; Keupp, K.; Swan, D.; Zimmermann, K.; Becker, J. & Iden, S. et al.​ (2012) 
    American journal of human genetics, 91(2) pp. 349​-357​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.06.011 
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  • 2012 | Journal Article | Research Paper | 
    ​ ​A large duplication involving the IHH locus mimics acrocallosal syndrome​
    Yüksel Apak, M.; Boegershausen, N.; Pawlik, B.; Li, Y. ; Apak, S.; Uyguner, O. & Milz, E. et al.​ (2012) 
    European Journal of Human Genetics, 20(6) pp. 639​-644​.​ DOI: https://doi.org/10.1038/ejhg.2011.250 
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  • 2012 | Journal Article | Research Paper
    ​ ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​
    Asharani, P. V.; Keupp, K.; Semler, O.; Wang, W.; Li, Y. ; Thiele, H. & Yigit, G.  et al.​ (2012) 
    American journal of human genetics, 90(4) pp. 661​-674​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.02.026 
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  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​
    von Ameln, S.; Wang, G.; Boulouiz, R.; Rutherford, M. A.; Smith, G. M.; Li, Y.   & Pogoda, H.-M. et al.​ (2012) 
    American journal of human genetics, 91(5) pp. 919​-927​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.09.002 
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  • 2011 | Journal Article | Research Paper
    ​ ​Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid​
    Laue, K.; Pogoda, H.-M.; Daniel, P. B.; van Haeringen, A.; Alanay, Y.; von Ameln, S. & Rachwalski, M. et al.​ (2011) 
    American journal of human genetics, 89(5) pp. 595​-606​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.09.015 
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  • 2011 | Journal Article | Research Paper
    ​ ​A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome​
    Borck, G.; Wunram, H.; Steiert, A.; Volk, A. E.; Koerber, F.; Roters, S. & Herkenrath, P. et al.​ (2011) 
    Human Genetics, 129(1) pp. 45​-50​.​ DOI: https://doi.org/10.1007/s00439-010-0896-2 
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  • 2011 | Journal Article | Research Paper
    ​ ​Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​
    Becker, J.; Semler, O.; Gilissen, C.; Li, Y. ; Bolz, H. J.; Giunta, C. & Bergmann, C. et al.​ (2011) 
    American journal of human genetics, 88(3) pp. 362​-371​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.01.015 
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  • 2011 | Journal Article | Research Paper
    ​ ​CEP152 is a genome maintenance protein disrupted in Seckel syndrome​
    Kalay, E.; Yigit, G. ; Aslan, Y.; Brown, K. E.; Pohl, E.; Bicknell, L. S. & Kayserili, H. et al.​ (2011) 
    Nature Genetics, 43(1) pp. 23​-26​.​ DOI: https://doi.org/10.1038/ng.725 
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  • 2011 | Journal Article | Research Paper
    ​ ​A Novel Homozygous COL11A2 Deletion Causes a C-Terminal Protein Truncation With Incomplete mRNA Decay in a Turkish Patient​
    Kayserili, H.; Wollnik, B. ; Guven, G.; Emiroglu, M. U.; Baserer, N. & Uyguner, O.​ (2011) 
    American Journal of Medical Genetics, 155A(1) pp. 180​-185​.​ DOI: https://doi.org/10.1002/ajmg.a.33780 
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  • 2011 | Journal Article | Research Paper
    ​ ​Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42​
    Borck, G.; Rehman, A. U.; Lee, K.; Pogoda, H.-M.; Kakar, N.; von Ameln, S. & Grillet, N. et al.​ (2011) 
    American journal of human genetics, 88(2) pp. 127​-137​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.12.011 
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  • 2011 | Journal Article | Research Paper
    ​ ​A mutation screen in patients with Kabuki syndrome​
    Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al.​ (2011) 
    Human Genetics, 130(6) pp. 715​-724​.​ DOI: https://doi.org/10.1007/s00439-011-1004-y 
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  • 2011 | Journal Article | Research Paper
    ​ ​Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus​
    Frenzel, L. P.; Claus, R.; Plume, N.; Schwamb, J.; Konermann, C.; Pallasch, C. P. & Claasen, J. et al.​ (2011) 
    International Journal of Cancer, 128(10) pp. 2495​-2500​.​ DOI: https://doi.org/10.1002/ijc.25579 
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  • 2010 | Journal Article | Research Paper
    ​ ​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, L. D.; Yigit, G.   & Canan, H. et al.​ (2010) 
    American journal of human genetics, 87(6) pp. 757​-767​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.10.003 
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  • 2010 | Journal Article | Research Paper
    ​ ​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, N. A.; Caliebe, A.; May, K. J. W. & Schweiger, B. et al.​ (2010) 
    Human Mutation, 31(1) pp. 81​-89​.​ DOI: https://doi.org/10.1002/humu.21142 
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  • 2010 | Journal Article | Research Paper
    ​ ​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​
    Li, Y. ; Pawlik, B.; Elcioglu, N. H.; Aglan, M.; Kayserili, H.; Yigit, G.   & Percin, E. F. et al.​ (2010) 
    American journal of human genetics, 86(5) pp. 696​-706​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.03.004 
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  • 2010 | Journal Article | Research Paper
    ​ ​Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation - A Mouse Model for Cenani-Lenz Syndrome​
    Karner, C. M.; Dietrich, M.; Johnson, E. B.; Kappesser, N.; Tennert, C.; Percin, E. F. & Wollnik, B.  et al.​ (2010) 
    PLoS ONE, 5(4) art. e10418​.​ DOI: https://doi.org/10.1371/journal.pone.0010418 
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  • 2009 | Journal Article | Research Paper
    ​ ​A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D​
    Elcioglu, N. H.; Pawlik, B.; Colak, B.; Beck, M. & Wollnik, B. ​ (2009) 
    Genetic Counseling, 20(2) pp. 133​-139​.​
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  • 2009 | Journal Article | Research Paper
    ​ ​Extended genetic analysis of BTNL2 in sarcoidosis​
    Li, Y.; Pabst, S.; Lokhande, S.; Grohe, C. & Wollnik, B. ​ (2009) 
    Tissue Antigens, 73(1) pp. 59​-61​.​ DOI: https://doi.org/10.1111/j.1399-0039.2008.01180.x 
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  • 2009 | Journal Article | Research Paper
    ​ ​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. et al.​ (2009) 
    Human Mutation, 30(12) pp. 1667​-1675​.​ DOI: https://doi.org/10.1002/humu.21117 
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  • 2009 | Journal Article | Research Paper
    ​ ​Mutations in PYCR1 cause cutis laxa with progeroid features​
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.   & Shboul, M. et al.​ (2009) 
    Nature Genetics, 41(9) pp. 1016​-U88​.​ DOI: https://doi.org/10.1038/ng.413 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families​
    Nahum, S.; Pasternack, S. M.; Pforr, J.; Indelman, M.; Wollnik, B. ; Bergman, R. & Noethen, M. M. et al.​ (2009) 
    Archives of Dermatological Research, 301(5) pp. 391​-393​.​ DOI: https://doi.org/10.1007/s00403-008-0903-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​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.​ (2009) 
    Journal of Neurology, 256(3) pp. 416​-419​.​ DOI: https://doi.org/10.1007/s00415-009-0094-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​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, B.-D.; Kayserili, H.; Ai, M.; Freudenberg, J.; Uezmcue, A.; Uyguner, O. & Bartels, C. F. et al.​ (2009) 
    Human Mutation, 30(4) pp. 641​-648​.​ DOI: https://doi.org/10.1002/humu.20916 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene​
    Kaplan, Y.; Vargel, I.; Kansu, T.; Akin, B.; Rohmann, E.; Kamaci, S. & Uz, E. et al.​ (2008) 
    British Journal of Ophthalmology, 92(1) pp. 135​-141​.​ DOI: https://doi.org/10.1136/bjo.2007.128157 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease​
    Pabst, S.; Wollnik, B. ; Rohmann, E.; Hintz, Y.; Glaenzer, K.; Vetter, H. & Nickenig, G. et al.​ (2008) 
    Clinical Research in Cardiology, 97(1) pp. 39​-42​.​ DOI: https://doi.org/10.1007/s00392-007-0574-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​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. et al.​ (2008) 
    Clinical Genetics, 74(3) pp. 223​-232​.​ DOI: https://doi.org/10.1111/j.1399-0004.2008.01053.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​
    Collin, R. W. J.; Kalay, E.; Tariq, M.; Peters, T.; van der Zwaag, B.; Venselaar, H. & Oostrik, J. et al.​ (2008) 
    American journal of human genetics, 82(1) pp. 125​-138​.​ DOI: https://doi.org/10.1016/j.ajhg.2007.09.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia​
    Budde, B.; Namavar, Y.; Barth, P. G.; Poll-The, B. T.; Nürnberg, G.; Becker, C. & van Ruissen, F. et al.​ (2008) 
    Nature Genetics, 40(9) pp. 1113​-1118​.​ DOI: https://doi.org/10.1038/ng.204 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​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. J.; Chafik, A.; Kubisch, C. & Rouba, H. et al.​ (2007) 
    Molecular vision, 13(204-08) pp. 1862​-1865​.​
    ​Details  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation​
    Kalay, E.; Uzumcu, A.; Krieger, E.; Caylan, R.; Uyguner, O.; Ulubil-Emiroglu, M. & Erdol, H. et al.​ (2007) 
    American Journal of Medical Genetics, 143A(20) pp. 2382​-2389​.​ DOI: https://doi.org/10.1002/ajmg.a.31937 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​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, G. D.; Cordeiro, J. M.; Casis, O.; Sanguinetti, M. C.; Aizawa, Y. & Guerchicoff, A. et al.​ (2007) 
    Circulation, 115(4) pp. 442​-449​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.106.668392 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region​
    Elcioglu, N. H.; Akin, B.; Toker, E.; Elcioglu, M.; Kaya, A.; Tuncali, T. & Wollnik, B.  et al.​ (2007) 
    American Journal of Medical Genetics, 143A(12) pp. 1308​-1312​.​ DOI: https://doi.org/10.1002/ajmg.a.31766 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1​
    Crisponi, L.; Crisponi, G.; Meloni, A.; Toliat, M. R.; Nürnberg, G.; Usala, G. & Uda, M. et al.​ (2007) 
    American journal of human genetics, 80(5) pp. 971​-981​.​ DOI: https://doi.org/10.1086/516843 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Lacrimo-auricuto-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathwayv​
    Shams, I.; Rohmann, E.; Eswarakumar, V. P.; Lew, E. D.; Yuzawa, S.; Wollnik, B.   & Schlessinger, J. et al.​ (2007) 
    Molecular and Cellular Biology, 27(19) pp. 6903​-6912​.​ DOI: https://doi.org/10.1128/MCB.00544-07 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​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, H. C. & Becker, C. et al.​ (2007) 
    Clinical Genetics, 71(3) pp. 212​-219​.​ DOI: https://doi.org/10.1111/j.1399-0004.2007.00762.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment​
    Collin, R. W. J.; Kalay, E.; Oostrik, J.; Caylan, R.; Wollnik, B. ; Arslan, S. & Hollander, A. I. den et al.​ (2007) 
    Human Mutation, 28(7) pp. 718​-723​.​ DOI: https://doi.org/10.1002/humu.20510 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation​
    Lew, E. D.; Bae, J. H.; Rohmann, E.; Wollnik, B.   & Schlessinger, J.​ (2007) 
    Proceedings of the National Academy of Sciences, 104(50) pp. 19802​-19807​.​ DOI: https://doi.org/10.1073/pnas.0709905104 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​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. W. J.; Caylan, R. & Ulubil-Emiroglu, M. et al.​ (2006) 
    Human Mutation, 27(7) pp. 633​-639​.​ DOI: https://doi.org/10.1002/humu.20368 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Mutations in different components of FGF signaling in LADD syndrome​
    Rohmann, E.; Brunner, H. G.; Kayserili, H.; Uyguner, O.; Nürnberg, G.; Lew, E. D. & Dobbie, A. et al.​ (2006) 
    Nature Genetics, 38(4) pp. 414​-417​.​ DOI: https://doi.org/10.1038/ng1757 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome​
    Uyguner, O.; Siva, A.; Kayserili, H.; Saip, S.; Altintas, A.; Apak, M. Y. & Albayram, S. et al.​ (2006) 
    Journal of the Neurological Sciences, 246(1-2) pp. 123​-130​.​ DOI: https://doi.org/10.1016/j.jns.2006.02.021 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome​
    Uzumcu, A.; Norgett, E. E.; Dindar, A.; Uyguner, O.; Nisli, K.; Kayserili, H. & Sahin, S. E. et al.​ (2006) 
    Journal of Medical Genetics, 43(2) art. e5​.​ DOI: https://doi.org/10.1136/jmg.2005.032904 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Phenotype reveals genotype in a Greek long QT syndrome family​
    Anastasakis, A.; Kotta, C. M.; Kyriakogonas, S.; Wollnik, B. ; Theopistou, A. & Stefanadis, C.​ (2006) 
    EP Europace, 8(4) pp. 241​-244​.​ DOI: https://doi.org/10.1093/europace/eul012 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​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. et al.​ (2005) 
    Human Genetics, 118(2) pp. 261​-266​.​ DOI: https://doi.org/10.1007/s00439-005-0026-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome​
    Kalay, E.; Brouwer, A. P. M. de; Caylan, R.; Nabuurs, S. B.; Wollnik, B. ; Karaguzel, A. & Heister, A. J. G. A. M. et al.​ (2005) 
    Journal of Molecular Medicine, 83(12) pp. 1025​-1032​.​ DOI: https://doi.org/10.1007/s00109-005-0719-4 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter​
    Tukel, T.; Uzumcu, A.; Gezer, A.; Kayserili, H.; Apak, M. Y.; Uyguner, O. & Gultekin, S. et al.​ (2005) 
    Journal of Medical Genetics, 42(5) pp. 408​-415​.​ DOI: https://doi.org/10.1136/jmg.2004.026138 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article | Research Paper
    ​ ​The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses​
    Basaran, S.; Engur, A.; Aytan, M.; Karaman, B.; Ghanem, A.; Toksoy, G. & Yuksel, A. et al.​ (2004) 
    Fetal Diagnosis and Therapy, 19(4) pp. 313​-318​.​ DOI: https://doi.org/10.1159/000077958 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​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. et al.​ (2003) 
    American journal of human genetics, 72(2) pp. 408​-418​.​ DOI: https://doi.org/10.1086/346090 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​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.​ (2003) 
    Prenatal Diagnosis, 23(4) pp. 336​-339​.​ DOI: https://doi.org/10.1002/pd.592 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency​
    Tukel, T.; Uyguner, O.; Wei, J. Q.; Yüksel Apak, M.; Saka, N.; Song, D. X. & Kayserili, H. et al.​ (2003) 
    The Journal of Clinical Endocrinology & Metabolism, 88(12) pp. 5893​-5897​.​ DOI: https://doi.org/10.1210/jc.2003-030813 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss​
    Uyguner, O.; Emiroglu, M. U.; Uzumcu, A.; Hafiz, G.; Ghanem, A.; Baserer, N. & Yüksel Apak, M. et al.​ (2003) 
    Clinical Genetics, 64(1) pp. 65​-69​.​ DOI: https://doi.org/10.1034/j.1399-0004.2003.00101.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations​
    Uyguner, O.; Jorge, E. G.; Cefle, A.; Baykal, T.; Kayserili, H.; Cefle, K. & Demirkol, M. et al.​ (2003) 
    Journal of Inherited Metabolic Disease, 26(1) pp. 17​-23​.​ DOI: https://doi.org/10.1023/A:1024063126954 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome​
    Wollnik, B. ; Tukel, T.; Uyguner, O.; Ghanem, A.; Kayserili, H.; Emiroglu, M. U. & Yüksel Apak, M.​ (2003) 
    American Journal of Medical Genetics, 122A(1) pp. 42​-45​.​ DOI: https://doi.org/10.1002/ajmg.a.20260 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​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. ​ (2002) 
    European Journal of Neurology, 9(1) pp. 23​-28​.​ DOI: https://doi.org/10.1046/j.1468-1331.2002.00344.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family​
    Wollnik, B. ; Kayserili, H.; Uyguner, O.; Tukel, T. & Yüksel Apak, M.​ (2002) 
    Annales de Génétique, 45(4) art. PII S0003-3995(02)01144-9​.​ DOI: https://doi.org/10.1016/S0003-3995(02)01144-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​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, S. A.; Chowdry, A. B.; Shapiro, R. E.; Paznekas, W. A.; Wandstrat, A. E.; Choi, J. W. & Kasch, L. et al.​ (2002) 
    Cytogenetic and Genome Research, 98(1) pp. 29​-37​.​ DOI: https://doi.org/10.1159/000068535 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​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.; Eris, H.; Emiroglu, M. U.; Hafiz, G. & Ghanem, A. et al.​ (2002) 
    Clinical Genetics, 62(4) pp. 306​-309​.​ DOI: https://doi.org/10.1034/j.1399-0004.2002.620409.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​The antihistamine fexofenadine does not affect I-Kr currents in a case report of drug-induced cardiac arrhythmia​
    Scherer, C. R.; Lerche, C.; Decher, N.; Dennis, A. T.; Maier, P.; Ficker, E. & Busch, A. E. et al.​ (2002) 
    British Journal of Pharmacology, 137(6) pp. 892​-900​.​ DOI: https://doi.org/10.1038/sj.bjp.0704873 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​HKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant​
    Decher, N.; Uyguner, O.; Scherer, C. R.; Karaman, B.; Yüksel Apak, M.; Busch, A. E. & Steinmeyer, K. et al.​ (2001) 
    Cardiovascular Research, 52(2) art. PII S0008-6363(01)00374-1​.​ DOI: https://doi.org/10.1016/S0008-6363(01)00374-1 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​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. et al.​ (2001) 
    Journal of the American College of Cardiology, 38(2) pp. 322​-330​.​ DOI: https://doi.org/10.1016/S0735-1097(01)01387-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene​
    Jakubiczka, S.; Bettecken, T.; Koch, G.; Tuysuz, B.; Wollnik, B.   & Wieacker, P.​ (2001) 
    Clinical Dysmorphology, 10(3) pp. 197​-201​.​ DOI: https://doi.org/10.1097/00019605-200107000-00009 
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias​
    Wollnik, B. ; Schroeder, B. C.; Kubisch, C.; Esperer, H. D.; Wieacker, P. & Jentsch, T. J.​ (1997) 
    Human Molecular Genetics, 6(11) pp. 1943​-1949​.​ DOI: https://doi.org/10.1093/hmg/6.11.1943 
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations​
    Wollnik, B. ; Kubisch, C.; Steinmeyer, K. & Pusch, M. ​ (1997) 
    Human Molecular Genetics, 6(5) pp. 805​-811​.​ DOI: https://doi.org/10.1093/hmg/6.5.805 
    ​Details  DOI  PMID  PMC  WoS 
  • 1994 | Journal Article | Research Paper
    ​ ​CLINICAL AND GENETIC-ASPECTS OF THE LONG QT SYNDROME​
    Wollnik, B.   & GUICHENEY, P.​ (1994) 
    Herz, 19(2) pp. 126​-132​.​
    ​Details  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​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.​ (1993) 
    FEBS Letters, 335(1) pp. 37​-40​.​ DOI: https://doi.org/10.1016/0014-5793(93)80434-V 
    ​Details  DOI  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​HYPEROSMOTIC STRESS INDUCES IMMEDIATE-EARLY GENE-EXPRESSION IN VENTRICULAR ADULT CARDIOMYOCYTES​
    Wollnik, B. ; Kubisch, C.; MAASS, A.; Vetter, H. & NEYSES, L.​ (1993) 
    Biochemical and Biophysical Research Communications, 194(2) pp. 642​-646​.​ DOI: https://doi.org/10.1006/bbrc.1993.1869 
    ​Details  DOI  PMID  PMC  WoS 

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