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 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Bögershausen, Nina, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo et al. "WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​." ​Human Mutation ​43, no. 10 (2022): ​1454​-1471​. ​https://doi.org/10.1002/humu.24430.
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Shomroni, Orr, Maren Sitte, Julia Schmidt, Sabnam Parbin, Fabian Ludewig, Gökhan Yigit, Laura Cecilia Zelarayan, Katrin Streckfuss-Bömeke, Bernd Wollnik, and Gabriella Salinas. "A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease​." ​Scientific Reports ​12, no. 1 (2022): ​4091​. ​https://doi.org/10.1038/s41598-022-07874-1.
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Iqbal, Maria, Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi, Michael Field, Siddharth Banka, Dalal K. Bubshait, Yun Li, Jozef Hertecant, and Gökhan Yigit. "Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies​." ​Genetics in Medicine (2021): . ​https://doi.org/10.1038/s41436-021-01260-4.
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | 
    ​ ​Schröder, Simone, Britta Wieland, Andreas Ohlenbusch, Gökhan Yigit, Janine Altmüller, Eugen Boltshauser, Thilo Dörk, and Knut Brockmann. "Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM​." ​American Journal of Medical Genetics Part A ​182, no. 12 (2020): ​2971​-2975​. ​https://doi.org/10.1002/ajmg.a.61870.
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder, Simone, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader, Andrea Bevot, Saskia Biskup et al. "Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​." ​Genetics in Medicine ​23, no. 2 (2020): ​341​-351​. ​https://doi.org/10.1038/s41436-020-00979-w.
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Ragamin, Aviël, Gökhan Yigit, Kristine Bousset, Filippo Beleggia, Frans W. Verheijen, Marie‐Claire Y. Wit, Tim M. Strom, Thilo Dörk, Bernd Wollnik, and Grazia M. S. Mancini. "Human RAD50 deficiency: Confirmation of a distinctive phenotype​." ​American Journal of Medical Genetics Part A ​182, no. 6 (2020): ​1378​-1386​. ​https://doi.org/10.1002/ajmg.a.61570.
    ​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 
  • 2019 | Journal Article | 
    ​ ​Nagy, Vanja, Ronja Hollstein, Tsung-Pin Pai, Michel K. Herde, Pisanu Buphamalai, Paul Moeseneder, Ewelina Lenartowicz et al. "HACE1 deficiency leads to structural and functional neurodevelopmental defects​." ​Neurology Genetics ​5, no. 3 (2019): ​e330​. ​https://doi.org/10.1212/NXG.0000000000000330.
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Kalasova, Ilona, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, and Keith W. Caldecott. "Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​." ​Neurology Genetics ​5, no. 2 (2019): ​e320​. ​https://doi.org/10.1212/NXG.0000000000000320.
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​Yigit, Gökhan, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M. White et al. "The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​." ​Human Mutation ​41, no. 3 (2019): ​591​-599​. ​https://doi.org/10.1002/humu.23964.
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Martin, Carol-Anne, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David A. Parry, Anna H. Bizard, Andrea Leitch et al. "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​." ​The American Journal of Human Genetics ​103, no. 2 (2018): ​221​-231​. ​https://doi.org/10.1016/j.ajhg.2018.07.001.
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | 
    ​ ​Windpassinger, Christian, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin et al. "CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​." ​The American Journal of Human Genetics ​101, no. 3 (2017): ​391​-403​. ​https://doi.org/10.1016/j.ajhg.2017.08.003.
    ​Details  DOI 

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