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Birth Defects Research|July 11, 2024
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention StudyElizabeth E Blue, Kristin J Moore, Kari E North, et al.
American Journal of Medical Genetics. Part A|June 18, 2022
Exome sequencing identifies genetic variants in anophthalmia and microphthalmiaJingjing Li, Wei Yang, Yuejun Jessie Wang, et al.
Birth Defects Research|March 11, 2022
Exome sequencing identifies variants in infants with sacral agenesisGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
HGG Advances|September 4, 2023
Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndromeElizabeth E Blue, Janson J White, Michael K Dush, et al.
Birth Defects Research|July 23, 2019
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental dataMary M Jenkins, Lynn M Almli, Faith Pangilinan, et al.
Birth Defects Research|April 30, 2025
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention StudyTonia C Carter, Denise M Kay, Faith Pangilinan, et al.
American Journal of Medical Genetics. Part A|March 21, 2023
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 variantsPagna Sok, Aniko Sabo, Lynn M Almli, et al.
Circulation. Cardiovascular Genetics|July 24, 2013
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controlsChrysovalanto Mamasoula, R Reid Prentice, Tomasz Pierscionek, et al.
Nature Genetics|May 4, 2010
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4Terri H Beaty, Jeffrey C Murray, Mary L Marazita, et al.
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