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HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. Webb BD, et al. Among authors: hao k. Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770981 Free PMC article.
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
Germain M, Chasman DI, de Haan H, Tang W, Lindström S, Weng LC, de Andrade M, de Visser MC, Wiggins KL, Suchon P, Saut N, Smadja DM, Le Gal G, van Hylckama Vlieg A, Di Narzo A, Hao K, Nelson CP, Rocanin-Arjo A, Folkersen L, Monajemi R, Rose LM, Brody JA, Slagboom E, Aïssi D, Gagnon F, Deleuze JF, Deloukas P, Tzourio C, Dartigues JF, Berr C, Taylor KD, Civelek M, Eriksson P; Cardiogenics Consortium; Psaty BM, Houwing-Duitermaat J, Goodall AH, Cambien F, Kraft P, Amouyel P, Samani NJ, Basu S, Ridker PM, Rosendaal FR, Kabrhel C, Folsom AR, Heit J, Reitsma PH, Trégouët DA, Smith NL, Morange PE. Germain M, et al. Among authors: hao k. Am J Hum Genet. 2015 Apr 2;96(4):532-42. doi: 10.1016/j.ajhg.2015.01.019. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772935 Free PMC article.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Sewda A, et al. Among authors: hao k. Pediatr Res. 2019 Mar;85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14. Pediatr Res. 2019. PMID: 30651579 Free PMC article.
Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations.
Lamontagne M, Bérubé JC, Obeidat M, Cho MH, Hobbs BD, Sakornsakolpat P, de Jong K, Boezen HM; International COPD Genetics Consortium; Nickle D, Hao K, Timens W, van den Berge M, Joubert P, Laviolette M, Sin DD, Paré PD, Bossé Y. Lamontagne M, et al. Among authors: hao k. Hum Mol Genet. 2018 May 15;27(10):1819-1829. doi: 10.1093/hmg/ddy091. Hum Mol Genet. 2018. PMID: 29547942 Free PMC article.
936 results