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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

CITE Title : Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data Personal 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.;Nickerson, Deborah A.;Bamshad, Michael J.;Brody, Lawrence C.;Reefhuis, Jennita; Corporate Authors(s) : NISC Comparative Sequencing Program;The University of Washington Center for Mendelian Genomics;The National Birth Defects Prevention Study; Published Date : July 21 2019;12-01-; Source : Birth Defects Res. 111(20):1618-1632 URL : https://stacks.cdc.gov/view/cdc/83053 Jenkins, Mary M. 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. 111(20). Jenkins, Mary M. et al. "Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data" 111, no. 20 (2019) Jenkins, Mary M. et al. "Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data" vol. 111, no. 20, 2019 Export RIS Citation Information.

:

Jenkins, Mary M. ;

Almli, Lynn M.

July 21 2019 | Birth Defects Res. 111(20):1618-1632

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Background:The National Birth Defects Prevention Study (NBDPS) is a multi-site, population-based, case–control study of genetic and nongenetic risk ...
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children

CITE Title : Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children Personal Author(s) : 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;Romitti, Paul A.;Mills, James L.; Corporate Authors(s) : University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study Published Date : 10 2021;10-2021; Source : Am J Med Genet A. 185(10):3028-3041 URL : https://stacks.cdc.gov/view/cdc/110271 Pitsava, Georgia et al. (2021). Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. 185(10). Pitsava, Georgia et al. "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children" 185, no. 10 (2021) Pitsava, Georgia et al. "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children" vol. 185, no. 10, 2021 Export RIS Citation Information.

:

Pitsava, Georgia ;

Feldkamp, Marcia L.

10 2021 | Am J Med Genet A. 185(10):3028-3041

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Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but tho...
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study

CITE Title : Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study Personal Author(s) : 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.;Nembhard, Wendy N.;Pangilinan, Faith;Olshan, Andrew F.; Corporate Authors(s) : National Institutes of Health Intramural Sequencing Center;University of Washington Center for Mendelian Genomics;National Birth Defects Prevention Study; Published Date : 7 2024;7-2024; Source : Birth Defects Res. 116(7):e2384 URL : https://stacks.cdc.gov/view/cdc/158695 Blue, Elizabeth E. et al. (2024). Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. 116(7). Blue, Elizabeth E. et al. "Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study" 116, no. 7 (2024) Blue, Elizabeth E. et al. "Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study" vol. 116, no. 7, 2024 Export RIS Citation Information.

:

Blue, Elizabeth E. ;

Moore, Kristin J.

7 2024 | Birth Defects Res. 116(7):e2384

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Background:Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (US). PCG has a autosomal recess...
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

CITE Title : 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 Personal Author(s) : 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;Meng, Qingchang;Moore, Cynthia A.;Mullikin, James C.;Muzny, Donna;Olshan, Andrew F.;Pangilinan, Faith;Reefhuis, Jennita;Romitti, Paul A.;Schraw, Jeremy M.;Shaw, Gary M.;Werler, Martha M.;Harpavat, Sanjiv;Lupo, Philip J.; Corporate Authors(s) : University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study Published Date : 6 2023;6-2023; Source : Am J Med Genet A. 191(6):1546-1556 URL : https://stacks.cdc.gov/view/cdc/151757 Sok, Pagna et al. (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 variants. 191(6). Sok, Pagna et al. "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" 191, no. 6 (2023) Sok, Pagna et al. "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" vol. 191, no. 6, 2023 Export RIS Citation Information.

:

Sok, Pagna

;

Sabo, Aniko

6 2023 | Am J Med Genet A. 191(6):1546-1556

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The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data fr...
Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia

CITE Title : Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia Personal Author(s) : Li, Jingjing;Yang, Wei;Wang, Yuejun Jessie;Ma, Chen;Curry, Cynthia J.;McGoldrick, Daniel;Nickerson, Deborah A.;Chong, Jessica X.;Blue, Elizabeth E.;Mullikin, James C.;Reefhuis, Jennita;Nembhard, Wendy N.;Romitti, Paul A.;Werler, Martha M.;Browne, Marilyn L.;Olshan, Andrew F.;Finnell, Richard H.;Feldkamp, Marcia L.;Pangilinan, Faith;Almli, Lynn M.;Bamshad, Mike J.;Brody, Lawrence C.;Jenkins, Mary M.;Shaw, Gary M.; Corporate Authors(s) : NISC Comparative Sequencing Program;University of Washington Center for Mendelian Genomics;National Birth Defects Prevention Study; Published Date : 8 2022;8-2022; Source : Am J Med Genet A. 188(8):2376-2388 URL : https://stacks.cdc.gov/view/cdc/119397 Li, Jingjing et al. (2022). Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia. 188(8). Li, Jingjing et al. "Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia" 188, no. 8 (2022) Li, Jingjing et al. "Exome Sequencing Identifies Genetic Variants in Anophthalmia and Microphthalmia" vol. 188, no. 8, 2022 Export RIS Citation Information.

:

Li, Jingjing ;

Yang, Wei

8 2022 | Am J Med Genet A. 188(8):2376-2388

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Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence ...
Exome sequencing identifies variants in infants with sacral agenesis

CITE Title : Exome sequencing identifies variants in infants with sacral agenesis Personal Author(s) : 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.;Bamshad, Michael J.;McGoldrick, Daniel;Nickerson, Deborah A.;Mullikin, James C.;Romitti, Paul A.;Mills, James L.; Corporate Authors(s) : UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Published Date : 4 2022;4-2022; Source : Birth Defects Res. 114(7):215-227 URL : https://stacks.cdc.gov/view/cdc/119844 Pitsava, Georgia et al. (2022). Exome sequencing identifies variants in infants with sacral agenesis. 114(7). Pitsava, Georgia et al. "Exome sequencing identifies variants in infants with sacral agenesis" 114, no. 7 (2022) Pitsava, Georgia et al. "Exome sequencing identifies variants in infants with sacral agenesis" vol. 114, no. 7, 2022 Export RIS Citation Information.

:

Pitsava, Georgia ;

Feldkamp, Marcia L.

4 2022 | Birth Defects Res. 114(7):215-227

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BackgroundSacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects...