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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 ...
Integrated genomic, epidemiologic investigation of Candida auris skin colonization in a skilled nursing facility

CITE Title : Integrated genomic, epidemiologic investigation of Candida auris skin colonization in a skilled nursing facility Personal Author(s) : Proctor, Diana M.;Dangana, Thelma;Sexton, D. Joseph;Fukuda, Christine;Yelin, Rachel D.;Stanley, Mary;Bell, Pamela B.;Baskaran, Sangeetha;Deming, Clay;Chen, Qiong;Conlan, Sean;Park, Morgan;Welsh, Rory M.;Vallabhaneni, Snigdha;Chiller, Tom;Forsberg, Kaitlin;Black, Stephanie R.;Pacilli, Massimo;Kong, Heidi H.;Lin, Michael Y.;Schoeny, Michael E.;Litvintseva, Anastasia P.;Segre, Julia A.;Hayden, Mary K.; Corporate Authors(s) : NISC Comparative Sequencing Program Published Date : 8 2021 Source : Nat Med. 27(8):1401-1409 URL : https://stacks.cdc.gov/view/cdc/120531 Proctor, Diana M. et al. (2021). Integrated genomic, epidemiologic investigation of Candida auris skin colonization in a skilled nursing facility. 27(8). Proctor, Diana M. et al. "Integrated genomic, epidemiologic investigation of Candida auris skin colonization in a skilled nursing facility" 27, no. 8 (2021) Proctor, Diana M. et al. "Integrated genomic, epidemiologic investigation of Candida auris skin colonization in a skilled nursing facility" vol. 27, no. 8, 2021 Export RIS Citation Information.

:

Proctor, Diana M. ;

Dangana, Thelma

8 2021 | Nat Med. 27(8):1401-1409

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Candida auris is a fungal pathogen of high concern due to its ability to cause healthcare-associated infections and outbreaks, its resistance to antim...
Skin Metagenomic Sequence Analysis of Early Candida auris Outbreaks in U.S. Nursing Homes

CITE Title : Skin Metagenomic Sequence Analysis of Early Candida auris Outbreaks in U.S. Nursing Homes Personal Author(s) : Huang, Xin;Welsh, Rory M.;Deming, Clay;Proctor, Diana M.;Thomas, Pamela J.;Gussin, Gabrielle M.;Huang, Susan S.;Kong, Heidi H.;Bentz, Meghan L.;Vallabhaneni, Snigdha;Chiller, Tom;Jackson, Brendan R.;Forsberg, Kaitlin;Conlan, Sean;Litvintseva, Anastasia P.;Segre, Julia A.; Corporate Authors(s) : NISC Comparative Sequencing Program Source : mSphere. 6(4) URL : https://stacks.cdc.gov/view/cdc/111627 Huang, Xin et al. (2020). Skin Metagenomic Sequence Analysis of Early Candida auris Outbreaks in U.S. Nursing Homes. 6(4). Huang, Xin et al. "Skin Metagenomic Sequence Analysis of Early Candida auris Outbreaks in U.S. Nursing Homes" 6, no. 4 (2020) Huang, Xin et al. "Skin Metagenomic Sequence Analysis of Early Candida auris Outbreaks in U.S. Nursing Homes" vol. 6, no. 4, 2020 Export RIS Citation Information.

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Huang, Xin ;

Welsh, Rory M.

| mSphere. 6(4)

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Candida auris is a human fungal pathogen classified as an urgent threat to the delivery of health care due to its extensive antimicrobial resistance a...
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 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.

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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 ...