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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.

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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 ...
Great ape genetic diversity and population history

CITE Title : Great ape genetic diversity and population history Personal Author(s) : Prado-Martinez, Javier;Sudmant, Peter H.;Kidd, Jeffrey M.;Li, Heng;Kelley, Joanna L.;Lorente-Galdos, Belen;Veeramah, Krishna R.;Woerner, August E.;O’Connor, Timothy D.;Santpere, Gabriel;Cagan, Alexander;Theunert, Christoph;Casals, Ferran;Laayouni, Hafid;Munch, Kasper;Hobolth, Asger;Halager, Anders E.;Malig, Maika;Hernandez-Rodriguez, Jessica;Hernando-Herraez, Irene;Prüfer, Kay;Pybus, Marc;Johnstone, Laurel;Lachmann, Michael;Alkan, Can;Twigg, Dorina;Petit, Natalia;Baker, Carl;Hormozdiari, Fereydoun;Fernandez-Callejo, Marcos;Dabad, Marc;Wilson, Michael L.;Stevison, Laurie;Camprubí, Cristina;Carvalho, Tiago;Ruiz-Herrera, Aurora;Vives, Laura;Mele, Marta;Abello, Teresa;Kondova, Ivanela;Bontrop, Ronald E.;Pusey, Anne;Lankester, Felix;Kiyang, John A.;Bergl, Richard A.;Lonsdorf, Elizabeth;Myers, Simon;Ventura, Mario;Gagneux, Pascal;Comas, David;Siegismund, Hans;Blanc, Julie;Agueda-Calpena, Lidia;Gut, Marta;Fulton, Lucinda;Tishkoff, Sarah A.;Mullikin, James C.;Wilson, Richard K.;Gut, Ivo G.;Gonder, Mary Katherine;Ryder, Oliver A.;Hahn, Beatrice H.;Navarro, Arcadi;Akey, Joshua M.;Bertranpetit, Jaume;Reich, David;Mailund, Thomas;Schierup, Mikkel H.;Hvilsom, Christina;Andrés, Aida M.;Wall, Jeffrey D.;Bustamante, Carlos D.;Hammer, Michael F.;Eichler, Evan E.;Marques-Bonet, Tomas; Published Date : Jul 03 2013 Source : Nature. 499(7459):471-475. URL : https://stacks.cdc.gov/view/cdc/22484 Prado-Martinez, Javier et al. (2013). Great ape genetic diversity and population history. 499(7459). Prado-Martinez, Javier et al. "Great ape genetic diversity and population history" 499, no. 7459 (2013) Prado-Martinez, Javier et al. "Great ape genetic diversity and population history" vol. 499, no. 7459, 2013 Export RIS Citation Information.

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Prado-Martinez, Javier ;

Sudmant, Peter H.

Jul 03 2013 | Nature. 499(7459):471-475.

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Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selectio...
Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity

CITE Title : Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity Personal Author(s) : Ferreira, Zélia;Hurle, Belen;Andrés, Aida M.;Kretzschmar, Warren W.;Mullikin, James C.;Cherukuri, Praveen F.;Cruz, Pedro;Gonder, Mary Katherine;Stone, Anne C.;Tishkoff, Sarah;Swanson, Willie J.;Green, Eric D.;Clark, Andrew G.;Seixas, Susana; Corporate Authors(s) : NISC Comparative Sequencing Program Published Date : 2013 Source : Genome Biol Evol. 2013; 5(12):2512-2523. URL : https://stacks.cdc.gov/view/cdc/27870 Ferreira, Zélia et al. (2013). Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity. 5(12). Ferreira, Zélia et al. "Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity" 5, no. 12 (2013) Ferreira, Zélia et al. "Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity" vol. 5, no. 12, 2013 Export RIS Citation Information.

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Ferreira, Zélia ;

Hurle, Belen

2013 | Genome Biol Evol. 2013; 5(12):2512-2523.

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Recent efforts have attempted to describe the population structure of common chimpanzee, focusing on four subspecies: Pan troglodytes verus, P. t. ell...
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...
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.

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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...