Prof. Dr. Bernd Wollnik

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  • 2022 | Journal Article | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
    ​Details  DOI  PMID  PMC 
  • 2022 | Preprint
    ​ ​Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita​
    Schnabel, F.; Schuler, E.; Al-Maawali, A.; Chaurasia, A.; Syrbe, S.; Al-Kindi, A.& Bhav, G. S. et al.​ (2022). DOI: https://doi.org/10.21203/rs.3.rs-2121654/v1 
    ​Details  DOI 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome​
    Gönenc, I. I.; Elcioglu, N. H.; Martinez Grijalva, C.; Aras, S.; Großmann, N.; Praulich, I. & Altmüller, J. et al.​ (2022) 
    Clinical Genetics, 101(5-6) pp. 559​-564​.​ DOI: https://doi.org/10.1111/cge.14125 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article
    ​ ​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, J. C.; Wollnik, B.   & Bögershausen, N. et al.​ (2021) 
    American Journal of Medical Genetics Part A, 185(4) pp. 1216​-1221​.​ DOI: https://doi.org/10.1002/ajmg.a.62070 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper
    ​ ​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. et al.​ (2021) 
    American Journal of Medical Genetics Part A,.​ DOI: https://doi.org/10.1002/ajmg.a.62532 
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  • 2020 | Journal Article
    ​ ​A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​
    Neuhofer, C. M.; Funke, R.; Wilken, B.; Knaus, A.; Altmüller, J.; Nürnberg, P. & Li, Y.  et al.​ (2020) 
    Molecular Syndromology, 11(1) pp. 30​-37​.​ DOI: https://doi.org/10.1159/000505797 
    ​Details  DOI 
  • 2020 | Preprint
    ​ ​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.; Zirkel, A.; Li, Y.& Yigit, G. et al.​ (2020). DOI: https://doi.org/10.1101/2020.01.27.921171 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper
    ​ ​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. et al.​ (2020) 
    Circulation, 142(11) pp. 1059​-1076​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.119.044794 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​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. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1363​-1379​.​ DOI: https://doi.org/10.1007/s00439-020-02175-x 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Research Paper
    ​ ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​
    Moosa, S. ; Yamamoto, G. L.; Garbes, L.; Keupp, K.; Beleza-Meireles, A.; Moreno, C. A. & Valadares, E. R. et al.​ (2019) 
    The American Journal of Human Genetics, 105(4) pp. 836​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.08.008 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​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. et al.​ (2019) 
    Journal of Medical Genetics, 56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​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, S. M. et al.​ (2019) 
    Human Mutation, 41(3) pp. 591​-599​.​ DOI: https://doi.org/10.1002/humu.23964 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(2) pp. 221​-231​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.07.001 
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  • 2017 | Journal Article
    ​ ​Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2​
    Moosa, S. ; Haagerup, A.; Gregersen, P. A.; Petersen, K. K.; Altmüller, J.; Thiele, H. & Nürnberg, P. et al.​ (2017) 
    American Journal of Medical Genetics Part A, 173(4) pp. 1102​-1108​.​ DOI: https://doi.org/10.1002/ajmg.a.38116 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​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.  et al.​ (2017) 
    Molecular Genetics & Genomic Medicine, 5(5) pp. 580​-584​.​ DOI: https://doi.org/10.1002/mgg3.287 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​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.  et al.​ (2017) 
    Clinical Genetics, 92(3) pp. 342​-343​.​ DOI: https://doi.org/10.1111/cge.12990 
    ​Details  DOI 
  • 2017 | Journal Article | Research Paper
    ​ ​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. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
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  • 2017 | Journal Article
    ​ ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​
    Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N.   & Yoshiura, K.-i. et al.​ (2017) 
    Nature Genetics, 49(2) pp. 249​-255​.​ DOI: https://doi.org/10.1038/ng.3765 
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  • 2016 | Journal Article
    ​ ​Cover Image, Volume 170A, Number 9, September 2016​
    Moosa, S. ; Fano, V.; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Nishimura, G. et al.​ (2016) 
    American Journal of Medical Genetics Part A, 170(9).​ DOI: https://doi.org/10.1002/ajmg.a.37884 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​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.  et al.​ (2016) 
    American Journal of Medical Genetics Part A, 173(1) pp. 264​-267​.​ DOI: https://doi.org/10.1002/ajmg.a.37999 
    ​Details  DOI 
  • 2016 | Journal Article | Letter Note
    ​ ​A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival​
    Moosa, S. ; Fano, V.; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Nishimura, G. et al.​ (2016) 
    American Journal of Medical Genetics, 170(9) pp. 2436​-2439​.​ DOI: https://doi.org/10.1002/ajmg.a.37823 
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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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 | 
    ​ ​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.  et al.​ (2016) 
    eLife, 5 art. e14277​.​ DOI: https://doi.org/10.7554/eLife.14277 
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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
    ​ ​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 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article
    ​ ​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.  et al.​ (2016) 
    American Journal of Medical Genetics, 170(12) pp. 3282​-3288​.​ DOI: https://doi.org/10.1002/ajmg.a.37931 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article
    ​ ​Mutations in CDK5RAP2 cause Seckel syndrome​
    Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al.​ (2015) 
    Molecular Genetics & Genomic Medicine, 3(5) pp. 467​-480​.​ DOI: https://doi.org/10.1002/mgg3.158 
    ​Details  DOI 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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
    ​ ​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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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
    ​ ​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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  • 2010 | Journal Article
    ​ ​A Novel Familial 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. et al.​ (2010) 
    Molecular Syndromology, 1(1) pp. 27​-34​.​ DOI: https://doi.org/10.1159/000276763 
    ​Details  DOI 
  • 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
    ​ ​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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  • 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 
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  • 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 
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  • 2008 | Journal Article | Letter Note
    ​ ​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. et al.​ (2008) 
    American Journal of Medical Genetics, 146A(23) pp. 3086​-3089​.​ DOI: https://doi.org/10.1002/ajmg.a.32525 
    ​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
    ​ ​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
    ​ ​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
    ​ ​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 
  • 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 
  • 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 

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