Dr. Yun Li

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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 | Research Paper
    ​ ​CRIM1 haploinsufficiency causes defects in eye development in human and mouse​
    Beleggia, F.; Li, Y. ; Fan, J.; Elcioglu, N. H.; Toker, E.; Wieland, T. & Maumenee, I. H. et al.​ (2015) 
    Human Molecular Genetics, 24(8) pp. 2267​-2273​.​ DOI: https://doi.org/10.1093/hmg/ddu744 
    ​Details  DOI  PMID  PMC  WoS 
  • 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
    ​ ​Activating Somatic FGFR2 Mutations in Breast Cancer​
    Reintjes, N.; Li, Y. ; Becker, A.; Rohmann, E.; Schmutzler, R. & Wollnik, B. ​ (2013) 
    PLoS ONE, 8(3) art. e60264​.​ DOI: https://doi.org/10.1371/journal.pone.0060264 
    ​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 
  • 2013 | Journal Article | Research Paper
    ​ ​Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​
    Dimopoulou, A.; Fischer, B.; Gardeitchik, T.; Schroeter, P.; Kayserili, H.; Schlack, C. & Li, Y.  et al.​ (2013) 
    Molecular Genetics and Metabolism, 110(3) pp. 352​-361​.​ DOI: https://doi.org/10.1016/j.ymgme.2013.08.009 
    ​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 
  • 2012 | Journal Article | Research Paper
    ​ ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​
    Asharani, P. V.; Keupp, K.; Semler, O.; Wang, W.; Li, Y. ; Thiele, H. & Yigit, G.  et al.​ (2012) 
    American journal of human genetics, 90(4) pp. 661​-674​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.02.026 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​
    von Ameln, S.; Wang, G.; Boulouiz, R.; Rutherford, M. A.; Smith, G. M.; Li, Y.   & Pogoda, H.-M. et al.​ (2012) 
    American journal of human genetics, 91(5) pp. 919​-927​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.09.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​
    Becker, J.; Semler, O.; Gilissen, C.; Li, Y. ; Bolz, H. J.; Giunta, C. & Bergmann, C. et al.​ (2011) 
    American journal of human genetics, 88(3) pp. 362​-371​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.01.015 
    ​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 
  • 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 
  • 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
    ​ ​A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb​
    Wieczorek, D.; Pawlik, B.; Li, Y. ; Akarsu, N. A.; Caliebe, A.; May, K. J. W. & Schweiger, B. et al.​ (2010) 
    Human Mutation, 31(1) pp. 81​-89​.​ DOI: https://doi.org/10.1002/humu.21142 
    ​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 
  • 2010 | Journal Article | Research Paper
    ​ ​Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss​
    Li, Y. ; Pohl, E.; Boulouiz, R.; Schraders, M.; Nürnberg, G.; Charif, M. & Admiraal, R. J. C. et al.​ (2010) 
    American journal of human genetics, 86(3) pp. 479​-484​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.02.003 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Mutations in PYCR1 cause cutis laxa with progeroid features​
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.   & Shboul, M. et al.​ (2009) 
    Nature Genetics, 41(9) pp. 1016​-U88​.​ DOI: https://doi.org/10.1038/ng.413 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings​
    Durmaz, B.; Wollnik, B. ; Cogulu, O.; Li, Y. ; Tekgul, H.; Hazan, F. & Ozkinay, F.​ (2009) 
    Journal of Neurology, 256(3) pp. 416​-419​.​ DOI: https://doi.org/10.1007/s00415-009-0094-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​
    Collin, R. W. J.; Kalay, E.; Tariq, M.; Peters, T.; van der Zwaag, B.; Venselaar, H. & Oostrik, J. et al.​ (2008) 
    American journal of human genetics, 82(1) pp. 125​-138​.​ DOI: https://doi.org/10.1016/j.ajhg.2007.09.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​
    Boulouiz, R.; Li, Y. ; Abidi, O.; Bolz, H. J.; Chafik, A.; Kubisch, C. & Rouba, H. et al.​ (2007) 
    Molecular vision, 13(204-08) pp. 1862​-1865​.​
    ​Details  PMID  PMC  WoS 

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