Dr. Gökhan Yigit

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  • 2022 | Journal Article | 
    ​ ​Schmidt, Julia, Steffi Dreha-Kulaczewski, Maria Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M. Neuhofer et al. "Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​." ​Frontiers in Cell and Developmental Biology ​10 (2022): . ​https://doi.org/10.3389/fcell.2022.1025332.
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Ganapathi, Mythily, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M. Lee, Bernd Auber et al. "Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​." ​Human Genetics ​139, no. 11 (2020): ​1443​-1454​. ​https://doi.org/10.1007/s00439-020-02188-6.
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper
    ​ ​Ehmke, Nadja, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia et al. "De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​." ​The American Journal of Human Genetics ​101, no. 5 (2017): ​833​-843​. ​https://doi.org/10.1016/j.ajhg.2017.09.016.
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  • 2017 | Journal Article
    ​ ​Gordon, Christopher T., Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura et al. "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​." ​Nature Genetics ​49, no. 2 (2017): ​249​-255​. ​https://doi.org/10.1038/ng.3765.
    ​Details  DOI  PMID  PMC 
  • 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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  • 2016 | Journal Article | Research Paper
    ​ ​Yigit, Gökhan, Dagmar Wieczorek, Nina Boegershausen, Filippo Beleggia, Claudia Moeller-Hartmann, Janine Altmüller, Holger Thiele, Peter Nürnberg, and Bernd Wollnik. "A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​." ​American Journal of Medical Genetics ​170, no. 3 (2016): ​728​-733​. ​https://doi.org/10.1002/ajmg.a.37484.
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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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  • 2014 | Journal Article | Research Paper
    ​ ​Hussain, Muhammad Sajid, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller et al. "Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​." ​American journal of human genetics ​95, no. 5 (2014): ​622​-632​. ​https://doi.org/10.1016/j.ajhg.2014.10.008.
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  • 2013 | Journal Article | Research Paper
    ​ ​Hussain, Muhammad Sajid, Shahid M. Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq et al. "CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​." ​Human Molecular Genetics ​22, no. 25 (2013): ​5199​-5214​. ​https://doi.org/10.1093/hmg/ddt374.
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​Asharani, P. V., Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Holger Thiele, Gökhan Yigit et al. "Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​." ​American journal of human genetics ​90, no. 4 (2012): ​661​-674​. ​https://doi.org/10.1016/j.ajhg.2012.02.026.
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