Dr. Gökhan Yigit

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unigoe
 

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  • 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 
  • 2015 | Journal Article
    ​ ​Mutations in CDK5RAP2 cause Seckel syndrome​
    Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al.​ (2015) 
    Molecular Genetics & Genomic Medicine, 3(5) pp. 467​-480​.​ DOI: https://doi.org/10.1002/mgg3.158 
    ​Details  DOI 
  • 2014 | Journal Article | Research Paper
    ​ ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​
    Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al.​ (2014) 
    American journal of human genetics, 95(5) pp. 622​-632​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​
    Hussain, M. S.; Baig, S. M.; Neumann, S.; Peche, V. S.; Szczepanski, S.; Nürnberg, G. & Tariq, M. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5199​-5214​.​ DOI: https://doi.org/10.1093/hmg/ddt374 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​CEP152 is a genome maintenance protein disrupted in Seckel syndrome​
    Kalay, E.; Yigit, G. ; Aslan, Y.; Brown, K. E.; Pohl, E.; Bicknell, L. S. & Kayserili, H. et al.​ (2011) 
    Nature Genetics, 43(1) pp. 23​-26​.​ DOI: https://doi.org/10.1038/ng.725 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​
    Li, Y. ; Laue, K.; Temtamy, S.; Aglan, M.; Kotan, L. D.; Yigit, G.   & Canan, H. et al.​ (2010) 
    American journal of human genetics, 87(6) pp. 757​-767​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.10.003 
    ​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 

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