Prof. Dr. Bernd Wollnik

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unigoe
 

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  • 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 
  • 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
    ​ ​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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 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 
    ​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 
  • 2013 | Journal Article
    ​ ​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. et al.​ (2013) 
    Molecular Genetics & Genomic Medicine, 1(4) pp. 223​-237​.​ DOI: https://doi.org/10.1002/mgg3.28 
    ​Details  DOI 
  • 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 
  • 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 
    ​Details  DOI  PMID  PMC  WoS 
  • 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​.​
    ​Details  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 

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