Dr. Gökhan Yigit

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  • 2022 | Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper
    ​ ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​
    Hanses, U.; Kleinsorge, M.; Roos, L.; Yigit, G. ; Li, Y. ; Barbarics, B. & El-Battrawy, I. et al.​ (2020) 
    Circulation, 142(11) pp. 1059​-1076​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.119.044794 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​
    Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al.​ (2020) 
    Genetics in Medicine, 23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Research Paper
    ​ ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​
    Moosa, S. ; Yamamoto, G. L.; Garbes, L.; Keupp, K.; Beleza-Meireles, A.; Moreno, C. A. & Valadares, E. R. et al.​ (2019) 
    The American Journal of Human Genetics, 105(4) pp. 836​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.08.008 
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​
    Yigit, G. ; Saida, K.; DeMarzo, D.; Miyake, N.; Fujita, A.; Yang Tan, T. & White, S. M. et al.​ (2019) 
    Human Mutation, 41(3) pp. 591​-599​.​ DOI: https://doi.org/10.1002/humu.23964 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(2) pp. 221​-231​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.07.001 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper
    ​ ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​
    Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al.​ (2018) 
    Journal of Medical Genetics, 55(12) pp. 837​-846​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105528 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper
    ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
    ​Details  DOI  PMID  PMC 

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