Prof. Dr. Bernd Wollnik

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  • 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 
  • 2018 | Journal Article
    ​ ​Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome​
    Vasileiou, G.; Vergarajauregui, S.; Endele, S.; Popp, B.; Büttner, C.; Ekici, A. B. & Gerard, M. et al.​ (2018) 
    The American Journal of Human Genetics, 102(3) pp. 468​-479​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.01.014 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes​
    Parenti, I.; Teresa-Rodrigo, M. E.; Pozojevic, J.; Ruiz Gil, S.; Bader, I.; Braunholz, D. & Bramswig, N. C. et al.​ (2017) 
    Human Genetics, 136(3) pp. 307​-320​.​ DOI: https://doi.org/10.1007/s00439-017-1758-y 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability​
    Bramswig, N. C.; Lüdecke, H.-J.; Hamdan, F. F.; Altmüller, J.; Beleggia, F.; Elcioglu, N. H. & Freyer, C. et al.​ (2017) 
    Human Genetics, 136(7) pp. 821​-834​.​ DOI: https://doi.org/10.1007/s00439-017-1795-6 
    ​Details  DOI 
  • 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
    ​ ​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 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​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
    ​ ​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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 

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