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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. Boycott KM, et al. Among authors: sham pc. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.
Mutations in the NRG1 gene are associated with Hirschsprung disease.
Tang CS, Ngan ES, Tang WK, So MT, Cheng G, Miao XP, Leon TY, Leung BM, Hui KJ, Lui VH, Chen Y, Chan IH, Chung PH, Liu XL, Wong KK, Sham PC, Cherny SS, Tam PK, Garcia-Barcelo MM. Tang CS, et al. Among authors: sham pc. Hum Genet. 2012 Jan;131(1):67-76. doi: 10.1007/s00439-011-1035-4. Epub 2011 Jun 25. Hum Genet. 2012. PMID: 21706185
Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density.
Xiao SM, Kung AW, Gao Y, Lau KS, Ma A, Zhang ZL, Liu JM, Xia W, He JW, Zhao L, Nie M, Fu WZ, Zhang MJ, Sun J, Kwan JS, Tso GH, Dai ZJ, Cheung CL, Bow CH, Leung AY, Tan KC, Sham PC. Xiao SM, et al. Among authors: sham pc. Hum Mol Genet. 2012 Apr 1;21(7):1648-57. doi: 10.1093/hmg/ddr586. Epub 2011 Dec 13. Hum Mol Genet. 2012. PMID: 22171069
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
Garcia-Barceló MM, Yeung MY, Miao XP, Tang CS, Cheng G, So MT, Ngan ES, Lui VC, Chen Y, Liu XL, Hui KJ, Li L, Guo WH, Sun XB, Tou JF, Chan KW, Wu XZ, Song YQ, Chan D, Cheung K, Chung PH, Wong KK, Sham PC, Cherny SS, Tam PK. Garcia-Barceló MM, et al. Among authors: sham pc. Hum Mol Genet. 2010 Jul 15;19(14):2917-25. doi: 10.1093/hmg/ddq196. Epub 2010 May 11. Hum Mol Genet. 2010. PMID: 20460270 Free PMC article.
Fine mapping of the 9q31 Hirschsprung's disease locus.
Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM. Tang CS, et al. Among authors: sham pc. Hum Genet. 2010 Jun;127(6):675-83. doi: 10.1007/s00439-010-0813-8. Epub 2010 Apr 2. Hum Genet. 2010. PMID: 20361209 Free PMC article.
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
Moayyeri A, Hsu YH, Karasik D, Estrada K, Xiao SM, Nielson C, Srikanth P, Giroux S, Wilson SG, Zheng HF, Smith AV, Pye SR, Leo PJ, Teumer A, Hwang JY, Ohlsson C, McGuigan F, Minster RL, Hayward C, Olmos JM, Lyytikäinen LP, Lewis JR, Swart KM, Masi L, Oldmeadow C, Holliday EG, Cheng S, van Schoor NM, Harvey NC, Kruk M, del Greco M F, Igl W, Trummer O, Grigoriou E, Luben R, Liu CT, Zhou Y, Oei L, Medina-Gomez C, Zmuda J, Tranah G, Brown SJ, Williams FM, Soranzo N, Jakobsdottir J, Siggeirsdottir K, Holliday KL, Hannemann A, Go MJ, Garcia M, Polasek O, Laaksonen M, Zhu K, Enneman AW, McEvoy M, Peel R, Sham PC, Jaworski M, Johansson Å, Hicks AA, Pludowski P, Scott R, Dhonukshe-Rutten RA, van der Velde N, Kähönen M, Viikari JS, Sievänen H, Raitakari OT, González-Macías J, Hernández JL, Mellström D, Ljunggren O, Cho YS, Völker U, Nauck M, Homuth G, Völzke H, Haring R, Brown MA, McCloskey E, Nicholson GC, Eastell R, Eisman JA, Jones G, Reid IR, Dennison EM, Wark J, Boonen S, Vanderschueren D, Wu FC, Aspelund T, Richards JB, Bauer D, Hofman A, Khaw KT, Dedoussis G, Obermayer-Pietsch B, Gyllensten U, Pramstaller PP, Lorenc RS, Cooper C, Kung AW, Lips P, Alen M, Attia J, Brandi ML, de… See abstract for full author list ➔ Moayyeri A, et al. Among authors: sham pc. Hum Mol Genet. 2014 Jun 1;23(11):3054-68. doi: 10.1093/hmg/ddt675. Epub 2014 Jan 14. Hum Mol Genet. 2014. PMID: 24430505 Free PMC article.
632 results