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Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study. Sok P, et al. Am J Med Genet A. 2023 Jun;191(6):1546-1556. doi: 10.1002/ajmg.a.63185. Epub 2023 Mar 21. Am J Med Genet A. 2023. PMID: 36942736
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
Martin-Giacalone BA, Lin AE, Rasmussen SA, Kirby RS, Nestoridi E, Liberman RF, Agopian AJ, Carey JC, Cragan JD, Forestieri N, Leedom V, Boyce A, Nembhard WN, Piccardi M, Sandidge T, Shan X, Shumate CJ, Stallings EB, Stevenson R, Lupo PJ. Martin-Giacalone BA, et al. Am J Med Genet A. 2023 May;191(5):1339-1349. doi: 10.1002/ajmg.a.63181. Epub 2023 Mar 15. Am J Med Genet A. 2023. PMID: 36919524 Free PMC article.
Patterns of co-occurring birth defects in children with anotia and microtia.
Schraw JM, Benjamin RH, Shumate CJ, Canfield MA, Scott DA, McLean SD, Northrup H, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Agopian AJ, Lupo PJ. Schraw JM, et al. Am J Med Genet A. 2023 Mar;191(3):805-812. doi: 10.1002/ajmg.a.63081. Epub 2022 Dec 21. Am J Med Genet A. 2023. PMID: 36541232 Free PMC article.
20 results