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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR. Dong W, et al. Among authors: lao r. J Lipid Res. 2022 Jun;63(6):100209. doi: 10.1016/j.jlr.2022.100209. Epub 2022 Apr 20. J Lipid Res. 2022. PMID: 35460704 Free PMC article.
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Slavotinek AM, et al. Among authors: lao r. Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161670 Free PMC article.
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. Choi A, et al. Among authors: lao r. Eur J Hum Genet. 2015 Mar;23(3):337-41. doi: 10.1038/ejhg.2014.119. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939590 Free PMC article.
DLX4 is associated with orofacial clefting and abnormal jaw development.
Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM. Wu D, et al. Among authors: lao r. Hum Mol Genet. 2015 Aug 1;24(15):4340-52. doi: 10.1093/hmg/ddv167. Epub 2015 May 7. Hum Mol Genet. 2015. PMID: 25954033 Free PMC article.
Genetic analysis of consanguineous families presenting with congenital ocular defects.
Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R, Ling-Fung Tang P, Kwok PY, Ansar M, Slavotinek A. Ullah E, et al. Among authors: lao r. Exp Eye Res. 2016 May;146:163-171. doi: 10.1016/j.exer.2016.03.014. Epub 2016 Mar 16. Exp Eye Res. 2016. PMID: 26995144
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A. Bardakjian T, et al. Among authors: lao r. Am J Ophthalmol Case Rep. 2017 Jun 21;7:102-106. doi: 10.1016/j.ajoc.2017.06.006. eCollection 2017 Sep. Am J Ophthalmol Case Rep. 2017. PMID: 29260090 Free PMC article.
Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
Kvale MN, Hesselson S, Hoffmann TJ, Cao Y, Chan D, Connell S, Croen LA, Dispensa BP, Eshragh J, Finn A, Gollub J, Iribarren C, Jorgenson E, Kushi LH, Lao R, Lu Y, Ludwig D, Mathauda GK, McGuire WB, Mei G, Miles S, Mittman M, Patil M, Quesenberry CP Jr, Ranatunga D, Rowell S, Sadler M, Sakoda LC, Shapero M, Shen L, Shenoy T, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Wan E, Webster T, Whitmer RA, Wong S, Zau C, Zhan Y, Schaefer C, Kwok PY, Risch N. Kvale MN, et al. Among authors: lao r. Genetics. 2015 Aug;200(4):1051-60. doi: 10.1534/genetics.115.178905. Epub 2015 Jun 19. Genetics. 2015. PMID: 26092718 Free PMC article.
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO. Slavotinek AM, et al. Among authors: lao r. Clin Genet. 2015 Nov;88(5):468-73. doi: 10.1111/cge.12543. Epub 2015 Jan 6. Clin Genet. 2015. PMID: 25457163 Free PMC article.
71 results