Dr. Yun Li

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  • 2015 | Journal Article | Research Paper
    ​ ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​
    Boegershausen, N.; Tsai, I.-C.; Pohl, E.; Kiper, P. O. S.; Beleggia, F.; Percin, E. F. & Keupp, K. et al.​ (2015) 
    Journal of Clinical Investigation, 125(9) pp. 3585​-3599​.​ DOI: https://doi.org/10.1172/JCI80102 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​
    Boegershausen, N.; Shahrzad, N.; Chong, J. X.; von Kleist-Retzow, J.-C.; Stanga, D.; Li, Y.   & Bernier, F. P. et al.​ (2013) 
    American journal of human genetics, 93(1) pp. 181​-190​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.028 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function​
    Kariminejad, A.; Stollfuss, B.; Li, Y. ; Boegershausen, N.; Boss, K.; Hennekam, R. C. M. & Wollnik, B. ​ (2013) 
    American Journal of Medical Genetics, 161A(6) pp. 1475​-1479​.​ DOI: https://doi.org/10.1002/ajmg.a.35920 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​
    Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y.   & Milz, E. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5121​-5135​.​ DOI: https://doi.org/10.1093/hmg/ddt366 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​A large duplication involving the IHH locus mimics acrocallosal syndrome​
    Yüksel Apak, M.; Boegershausen, N.; Pawlik, B.; Li, Y. ; Apak, S.; Uyguner, O. & Milz, E. et al.​ (2012) 
    European Journal of Human Genetics, 20(6) pp. 639​-644​.​ DOI: https://doi.org/10.1038/ejhg.2011.250 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A mutation screen in patients with Kabuki syndrome​
    Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al.​ (2011) 
    Human Genetics, 130(6) pp. 715​-724​.​ DOI: https://doi.org/10.1007/s00439-011-1004-y 
    ​Details  DOI  PMID  PMC  WoS 

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https://publications.goettingen-research-online.de URI: /cris/rp/rp02396
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