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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
Influenza vaccination during pregnancy and risk of selected major structural congenital heart defects, National Birth Defects Prevention Study 2006-2011.
Palmsten K, Suhl J, Conway KM, Kharbanda EO, Scholz TD, Ailes EC, Cragan JD, Nestoridi E, Papadopoulos EA, Kerr SM, Young SG, Olson C, Romitti PA; National Birth Defects Prevention Study. Palmsten K, et al. Birth Defects Res. 2023 Jan 1;115(1):88-95. doi: 10.1002/bdr2.2114. Epub 2022 Nov 11. Birth Defects Res. 2023. PMID: 36369789 Free PMC article.
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Li J, Yang W, Wang YJ, Ma C, Curry CJ, McGoldrick D, Nickerson DA, Chong JX, Blue EE, Mullikin JC, Reefhuis J, Nembhard WN, Romitti PA, Werler MM, Browne ML, Olshan AF, Finnell RH, Feldkamp ML, Pangilinan F, Almli LM, Bamshad MJ, Brody LC, Jenkins MM, Shaw GM; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics; National Birth Defects Prevention Study. Li J, et al. Am J Med Genet A. 2022 Aug;188(8):2376-2388. doi: 10.1002/ajmg.a.62874. Epub 2022 Jun 18. Am J Med Genet A. 2022. PMID: 35716026 Free PMC article.
Influenza vaccination during pregnancy and risk of selected major structural noncardiac birth defects, National Birth Defects Prevention Study 2006-2011.
Palmsten K, Suhl J, Conway KM, Kharbanda EO, Ailes EC, Cragan JD, Nestoridi E, Papadopoulos EA, Kerr SM, Young SG, DeStefano F, Romitti PA; National Birth Defects Prevention Study. Palmsten K, et al. Pharmacoepidemiol Drug Saf. 2022 Aug;31(8):851-862. doi: 10.1002/pds.5435. Epub 2022 Apr 22. Pharmacoepidemiol Drug Saf. 2022. PMID: 35366035 Free PMC article.
19 results