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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.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
By:
- Sok, Pagna;
- Sabo, Aniko;
- Almli, Lynn M.;
- Jenkins, Mary M.;
- Nembhard, Wendy N.;
- Agopian, A. J.;
- Bamshad, Michael J.;
- Blue, Elizabeth E.;
- Brody, Lawrence C.;
- Brown, Austin L.;
- Browne, Marilyn L.;
- Canfield, Mark A.;
- Carmichael, Suzan L.;
- Chong, Jessica X.;
- Dugan‐Perez, Shannon;
- Feldkamp, Marcia L.;
- Finnell, Richard H.;
- Gibbs, Richard A.;
- Kay, Denise M.;
- Lei, Yunping
Publication type:
Article
A genome‐wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2303, doi. 10.1002/ajmg.a.62759
By:
- Rashkin, Sara R.;
- Cleves, Mario;
- Shaw, Gary M.;
- Nembhard, Wendy N.;
- Nestoridi, Eirini;
- Jenkins, Mary M.;
- Romitti, Paul A.;
- Lou, Xiang‐Yang;
- Browne, Marilyn L.;
- Mitchell, Laura E.;
- Olshan, Andrew F.;
- Lomangino, Kevin;
- Bhattacharyya, Sudeepa;
- Witte, John S.;
- Hobbs, Charlotte A.
Publication type:
Article
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3028, doi. 10.1002/ajmg.a.62439
By:
- Pitsava, Georgia;
- Feldkamp, Marcia L.;
- Pankratz, Nathan;
- Lane, John;
- Kay, Denise M.;
- Conway, Kristin M.;
- Shaw, Gary M.;
- Reefhuis, Jennita;
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Olshan, Andrew F.;
- Pangilinan, Faith;
- Brody, Lawrence C.;
- Sicko, Robert J.;
- Hobbs, Charlotte A.;
- Bamshad, Mike;
- McGoldrick, Daniel;
- Nickerson, Deborah A.;
- Finnell, Richard H.;
- Mullikin, James
Publication type:
Article
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1454, doi. 10.1002/ajmg.a.36478
By:
- Jenkins, Mary M.;
- Reefhuis, Jennita;
- Gallagher, Margaret L.;
- Mulle, Jennifer G.;
- Hoffmann, Thomas J.;
- Koontz, Deborah A.;
- Sturchio, Cynthia;
- Rasmussen, Sonja A.;
- Witte, John S.;
- Richter, Patricia;
- Honein, Margaret A.
Publication type:
Article
Qualitative assessment of study materials and communication strategies used in studies that include DNA collection.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2721, doi. 10.1002/ajmg.a.34263
By:
- Jenkins, Mary M.;
- Reed-Gross, Erika;
- Barfield, Wanda D.;
- Prue, Christine E.;
- Gallagher, Margaret L.;
- Rasmussen, Sonja A.;
- Honein, Margaret A.
Publication type:
Article
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.
Published in:
PLoS Genetics, 2021, v. 17, n. 3, p. 1, doi. 10.1371/journal.pgen.1009413
By:
- Patel, Jenil;
- Bircan, Emine;
- Tang, Xinyu;
- Orloff, Mohammed;
- Hobbs, Charlotte A.;
- Browne, Marilyn L.;
- Botto, Lorenzo D.;
- Finnell, Richard H.;
- Jenkins, Mary M.;
- Olshan, Andrew;
- Romitti, Paul A.;
- Shaw, Gary M.;
- Werler, Martha M.;
- Li, Jingyun;
- Nembhard, Wendy N.
Publication type:
Article
Real-world data are not always big data: the case for primary data collection on medication use in pregnancy in the context of birth defects research.
Published in:
American Journal of Epidemiology, 2024, v. 193, n. 9, p. 1211, doi. 10.1093/aje/kwae060
By:
- Ailes, Elizabeth C;
- Werler, Martha M;
- Howley, Meredith M;
- Jenkins, Mary M;
- Reefhuis, Jennita
Publication type:
Article
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Published in:
Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
By:
- Blue, Elizabeth E.;
- Moore, Kristin J.;
- North, Kari E.;
- Desrosiers, Tania A.;
- Carmichael, Suzan L.;
- White, Janson J.;
- Chong, Jessica X.;
- Bamshad, Michael J.;
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Brody, Lawrence C.;
- Freedman, Sharon F.;
- Reefhuis, Jennita;
- Romitti, Paul A.;
- Shaw, Gary M.;
- Werler, Martha;
- Kay, Denise M.;
- Browne, Marilyn L.;
- Feldkamp, Marcia L.;
- Finnell, Richard H.
Publication type:
Article
Exome sequencing identifies variants in infants with sacral agenesis.
Published in:
Birth Defects Research, 2022, v. 114, n. 7, p. 215, doi. 10.1002/bdr2.1987
By:
- Pitsava, Georgia;
- Feldkamp, Marcia L.;
- Pankratz, Nathan;
- Lane, John;
- Kay, Denise M.;
- Conway, Kristin M.;
- Hobbs, Charlotte;
- Shaw, Gary M.;
- Reefhuis, Jennita;
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Moore, Cynthia;
- Werler, Martha;
- Browne, Marilyn L.;
- Cunniff, Chris;
- Olshan, Andrew F.;
- Pangilinan, Faith;
- Brody, Lawrence C.;
- Sicko, Robert J.;
- Finnell, Richard H.
Publication type:
Article
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
Published in:
Birth Defects Research, 2019, v. 111, n. 20, p. 1618, doi. 10.1002/bdr2.1554
By:
- 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.
Publication type:
Article
Genome‐wide association studies of structural birth defects: A review and commentary.
Published in:
Birth Defects Research, 2019, v. 111, n. 18, p. 1329, doi. 10.1002/bdr2.1606
By:
- Lupo, Philip J.;
- Mitchell, Laura E.;
- Jenkins, Mary M.
Publication type:
Article
Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene-environment interactions.
Published in:
Genetic Epidemiology, 2017, v. 41, n. 8, p. 834, doi. 10.1002/gepi.22088
By:
- Jenkins, Mary M.;
- Reefhuis, Jennita;
- Herring, Amy H.;
- Honein, Margaret A.
Publication type:
Article

Found: 12