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Page 1
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.
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.
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.
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.
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: wan e. Genetics. 2015 Aug;200(4):1051-60. doi: 10.1534/genetics.115.178905. Epub 2015 Jun 19. Genetics. 2015. PMID: 26092718 Free PMC article.
Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.
Lee JC, Mazor T, Lao R, Wan E, Diallo AB, Hill NS, Thangaraj N, Wendelsdorf K, Samuel D, Kline CN, Banerjee A, Auguste K, Raffel C, Gupta N, Berger M, Raleigh DR, Shai A, Phillips JJ, Bollen AW, Tihan T, Perry A, Costello J, Solomon DA. Lee JC, et al. Among authors: wan e. Acta Neuropathol. 2019 May;137(5):851-854. doi: 10.1007/s00401-019-01990-5. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30877433 Free PMC article. No abstract available.
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.
597 results