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Exome Sequencing of Family Trios from the National Birth Defects Prevention Study: Tapping into a Rich Resource of Genetic and Environmental Data

Citation

Jenkins, Mary M.; Almli, Lynn M.; Pangilinan, Faith; Chong, Jessica X.; Blue, Elizabeth E.; Shapira, Stuart K.; White, Janson; McGoldrick, Daniel; Smith, Joshua D.; & Mullikin, James C., et al. (2019). Exome Sequencing of Family Trios from the National Birth Defects Prevention Study: Tapping into a Rich Resource of Genetic and Environmental Data. Birth Defects Research, 111(20), 1618-32. PMCID: PMC6889076

Abstract

BACKGROUND: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case-control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a birth defect or a liveborn child without a birth defect between 1997 and 2011. They were invited to complete a telephone interview to collect pregnancy exposure data and were mailed buccal cell collection kits to collect specimens from themselves, their child (if living), and their child's father. Over 23,000 families representing more than 30 major structural birth defects provided DNA specimens.

URL

http://dx.doi.org/10.1002/bdr2.1554

Reference Type

Journal Article

Journal Title

Birth Defects Research

Author(s)

Jenkins, Mary M.
Almli, Lynn M.
Pangilinan, Faith
Chong, Jessica X.
Blue, Elizabeth E.
Shapira, Stuart K.
White, Janson
McGoldrick, Daniel
Smith, Joshua D.
Mullikin, James C.
Bean, Christopher J.
Nembhard, Wendy N.
Lou, Xiang-Yang
Shaw, Gary M.
Romitti, Paul A.
Keppler-Noreuil, Kim
Yazdy, Mahsa M.
Kay, Denise M.
Carter, Tonia C.
Olshan, Andrew F.
Moore, Kristin J.
Nascone-Yoder, Nanette
Finnell, Richard H.
Lupo, Philip J.
Feldkamp, Marcia L.
NISC Comparative Sequencing Program
University of Washington Center for Mendelian Genomics
Nickerson, Deborah A.
Bamshad, Michael J.
Brody, Lawrence C.
Reefhuis, Jennita, for the National Birth Defects Prevention Study

Year Published

2019

Volume Number

111

Issue Number

20

Pages

1618-32

PMCID

PMC6889076

Reference ID

13102