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The Authors Respond.
Francis SS, Shaw GM. Francis SS, et al. Epidemiology. 2019 Jan;30(1):e2-e3. doi: 10.1097/EDE.0000000000000935. Epidemiology. 2019. PMID: 30299403 No abstract available.
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ. Robinson K, et al. HGG Adv. 2023 Aug 25;4(4):100234. doi: 10.1016/j.xhgg.2023.100234. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37719664 Free PMC article.
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
Stillbirths and live births in the periviable period.
Elser H, Gemmill A, Casey JA, Karasek D, Bruckner T, Mayo JA, Lee HC, Stevenson DK, Shaw GM, Catalano R. Elser H, et al. Ann Epidemiol. 2020 Sep;49:8-12. doi: 10.1016/j.annepidem.2020.07.002. Epub 2020 Jul 8. Ann Epidemiol. 2020. PMID: 32648545 Free PMC article.
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 Free PMC article.
Periconceptional intakes of methyl donors and other micronutrients involved in one-carbon metabolism may further reduce the risk of neural tube defects in offspring: a United States population-based case-control study of women meeting the folic acid recommendations.
Petersen JM, Smith-Webb RS, Shaw GM, Carmichael SL, Desrosiers TA, Nestoridi E, Darling AM, Parker SE, Politis MD, Yazdy MM, Werler MM; National Birth Defects Prevention Study. Petersen JM, et al. Am J Clin Nutr. 2023 Sep;118(3):720-728. doi: 10.1016/j.ajcnut.2023.05.034. Epub 2023 Aug 8. Am J Clin Nutr. 2023. PMID: 37661108 Free PMC article.
CIC missense variants contribute to susceptibility for spina bifida.
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAP, Cabrera RM, Lin YL, Wlodarczyk BJ, Shaw GM, Ross ME, Zhang C, Finnell RH, Lei Y. Han X, et al. Hum Mutat. 2022 Dec;43(12):2021-2032. doi: 10.1002/humu.24460. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054333 Free PMC article.
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ. Robinson K, et al. medRxiv [Preprint]. 2023 Apr 6:2023.03.01.23286642. doi: 10.1101/2023.03.01.23286642. medRxiv. 2023. Update in: HGG Adv. 2023 Aug 25;4(4):100234. doi: 10.1016/j.xhgg.2023.100234 PMID: 37066311 Free PMC article. Updated. Preprint.
80 results