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The role of genetic variation in DGKK on moderate and severe hypospadias

CITE Title : The role of genetic variation in DGKK on moderate and severe hypospadias Personal Author(s) : Richard, Melissa A.;Sok, Pagna;Canon, Stephen;Brown, Austin L.;Peckham-Gregory, Erin C.;Nembhard, Wendy N.;Carmichael, Suzan L.;Ehli, Erik A.;Kallsen, Noah A.;Peyton, Shanna A.;Davies, Gareth E.;Patel, Ashay;Zamilpa, Ismael;Wyatt, Richard A.;Hobbs, Charlotte A.;Scheurer, Michael E.;Lupo, Philip J.; Published Date : May 18 2019 Source : Birth Defects Res. 111(13):932-937 URL : https://stacks.cdc.gov/view/cdc/105702 Richard, Melissa A. et al. (2019). The role of genetic variation in DGKK on moderate and severe hypospadias. 111(13). Richard, Melissa A. et al. "The role of genetic variation in DGKK on moderate and severe hypospadias" 111, no. 13 (2019) Richard, Melissa A. et al. "The role of genetic variation in DGKK on moderate and severe hypospadias" vol. 111, no. 13, 2019 Export RIS Citation Information.

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Richard, Melissa A. ;

Sok, Pagna

May 18 2019 | Birth Defects Res. 111(13):932-937

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Background:Recent genome-wide association studies of hypospadias have implicated the role of genetic variants in or near the diacylglycerol kinase kap...
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.

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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...