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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: wan e. 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.
Rapid DNA mapping by fluorescent single molecule detection.
Xiao M, Phong A, Ha C, Chan TF, Cai D, Leung L, Wan E, Kistler AL, DeRisi JL, Selvin PR, Kwok PY. Xiao M, et al. Among authors: wan e. Nucleic Acids Res. 2007;35(3):e16. doi: 10.1093/nar/gkl1044. Epub 2006 Dec 14. Nucleic Acids Res. 2007. PMID: 17175538 Free PMC article.
Direct determination of haplotypes from single DNA molecules.
Xiao M, Wan E, Chu C, Hsueh WC, Cao Y, Kwok PY. Xiao M, et al. Among authors: wan e. Nat Methods. 2009 Mar;6(3):199-201. doi: 10.1038/nmeth.1301. Epub 2009 Feb 8. Nat Methods. 2009. PMID: 19198595 Free PMC article.
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.
Hoffmann TJ, Kvale MN, Hesselson SE, Zhan Y, Aquino C, Cao Y, Cawley S, Chung E, Connell S, Eshragh J, Ewing M, Gollub J, Henderson M, Hubbell E, Iribarren C, Kaufman J, Lao RZ, Lu Y, Ludwig D, Mathauda GK, McGuire W, Mei G, Miles S, Purdy MM, Quesenberry C, Ranatunga D, Rowell S, Sadler M, Shapero MH, Shen L, Shenoy TR, Smethurst D, Van den Eeden SK, Walter L, Wan E, Wearley R, Webster T, Wen CC, Weng L, Whitmer RA, Williams A, Wong SC, Zau C, Finn A, Schaefer C, Kwok PY, Risch N. Hoffmann TJ, et al. Among authors: wan e. Genomics. 2011 Aug;98(2):79-89. doi: 10.1016/j.ygeno.2011.04.005. Epub 2011 Apr 30. Genomics. 2011. PMID: 21565264 Free PMC article.
Mitochondrial DNA sequence variation and risk of pancreatic cancer.
Lam ET, Bracci PM, Holly EA, Chu C, Poon A, Wan E, White K, Kwok PY, Pawlikowska L, Tranah GJ. Lam ET, et al. Among authors: wan e. Cancer Res. 2012 Feb 1;72(3):686-95. doi: 10.1158/0008-5472.CAN-11-1682. Epub 2011 Dec 15. Cancer Res. 2012. PMID: 22174369 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: wan e. 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.
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: wan e. 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.
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: wan e. 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.
600 results