Dr. Gökhan Yigit

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  • 2016 | Journal Article | Research Paper
    ​ ​Bögershausen, Nina, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper et al. "Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​." ​Human Mutation ​37, no. 9 (2016): ​847​-864​. ​https://doi.org/10.1002/humu.23026.
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  • 2016 | Journal Article | Research Paper
    ​ ​Harley, Margaret E., Olga Murina, Andrea Leitch, Martin R. Higgs, Louise S. Bicknell, Gökhan Yigit, Andrew N. Blackford et al. "TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​." ​Nature Genetics ​48, no. 1 (2016): ​36​-+​. ​https://doi.org/10.1038/ng.3451.
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  • 2015 | Journal Article | Research Paper
    ​ ​Boegershausen, Nina, I-Chun Tsai, Esther Pohl, Pelin Ozlem Simsek Kiper, Filippo Beleggia, E. Ferda Percin, Katharina Keupp et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​." ​Journal of Clinical Investigation ​125, no. 9 (2015): ​3585​-3599​. ​https://doi.org/10.1172/JCI80102.
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  • 2015 | Journal Article | Research Paper
    ​ ​Rosin, Nadine, Nursel H. Elcioglu, Filippo Beleggia, Pinar Isguven, Janine Altmüller, Holger Thiele, Katharina Steindl et al. "Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​." ​Human Molecular Genetics ​24, no. 13 (2015): ​3708​-3717​. ​https://doi.org/10.1093/hmg/ddv115.
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  • 2013 | Journal Article
    ​ ​Keupp, Katharina, Yun Li, Ibrahim Vargel, Alexander Hoischen, Rebecca Richardson, Kornelia Neveling, Yasemin Alanay et al. "Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​." ​Molecular Genetics & Genomic Medicine ​1, no. 4 (2013): ​223​-237​. ​https://doi.org/10.1002/mgg3.28.
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  • 2010 | Journal Article | Research Paper
    ​ ​Li, Yun, Barbara Pawlik, Nursel H. Elcioglu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Percin et al. "LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​." ​American journal of human genetics ​86, no. 5 (2010): ​696​-706​. ​https://doi.org/10.1016/j.ajhg.2010.03.004.
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