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Rare copy number variants identified in prune belly syndrome

CITE Title : Rare copy number variants identified in prune belly syndrome Personal Author(s) : Boghossian, Nansi S.;Sicko, Robert J.;Giannakou, Andreas;Dimopoulos, Aggeliki;Caggana, Michele;Tsai, Michael Y.;Yeung, Edwina H.;Pankratz, Nathan;Cole, Benjamin R.;Romitti, Paul A.;Browne, Marilyn L.;Fan, Ruzong;Liu, Aiyi;Kay, Denise M.;Mills, James L.; Published Date : November 23 2017;3-2018; Source : Eur J Med Genet. 61(3):145-151 URL : https://stacks.cdc.gov/view/cdc/82846 Boghossian, Nansi S. et al. (2017). Rare copy number variants identified in prune belly syndrome. 61(3). Boghossian, Nansi S. et al. "Rare copy number variants identified in prune belly syndrome" 61, no. 3 (2017) Boghossian, Nansi S. et al. "Rare copy number variants identified in prune belly syndrome" vol. 61, no. 3, 2017 Export RIS Citation Information.

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Boghossian, Nansi S. ;

Sicko, Robert J.

November 23 2017 | Eur J Med Genet. 61(3):145-151

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Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdomina...
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...
Consortium

CITE Title : Consortium Personal Author(s) : Tang, Weihong;Teichert, Martina;Chasman, Daniel I.;Heit, John A.;Morange, Pierre-Emmanuel;Li, Guo;Pankratz, Nathan;Leebeek, Frank W.;Paré, Guillaume;de Andrade, Mariza;Tzourio, Christophe;Psaty, Bruce M.;Basu, Saonli;Ruiter, Rikje;Rose, Lynda;Armasu, Sebastian M.;Lumley, Thomas;Heckbert, Susan R.;Uitterlinden, André G.;Lathrop, Mark;Rice, Kenneth M.;Cushman, Mary;Hofman, Albert;Lambert, Jean-Charles;Glazer, Nicole L.;Pankow, James S.;Witteman, Jacqueline C.;Amouyel, Philippe;Bis, Joshua C.;Bovill, Edwin G.;Kong, Xiaoxiao;Tracy, Russell P.;Boerwinkle, Eric;Rotter, Jerome I.;Trégouët, David-Alexandre;Loth, Daan W.;Stricker, Bruno H. Ch.;Ridker, Paul M;Folsom, Aaron R.;Smith, Nicholas L.; Published Date : May 05 2013 Source : Genet Epidemiol. 37(5):512-521 URL : https://stacks.cdc.gov/view/cdc/41950 Tang, Weihong et al. (2013). Consortium. 37(5). Tang, Weihong et al. "Consortium" 37, no. 5 (2013) Tang, Weihong et al. "Consortium" vol. 37, no. 5, 2013 Export RIS Citation Information.

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Tang, Weihong ;

Teichert, Martina

May 05 2013 | Genet Epidemiol. 37(5):512-521

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Venous thromboembolism (VTE) is a common, heritable disease resulting in high rates of hospitalization and mortality. Yet few associations between VTE...
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

CITE Title : Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database Personal Author(s) : Lill, Christina M.;Roehr, Johannes T.;McQueen, Matthew B.;Kavvoura, Fotini K.;Bagade, Sachin;Schjeide, Brit-Maren M.;Schjeide, Leif M.;Meissner, Esther;Zauft, Ute;Allen, Nicole C.;Liu, Tian;Schilling, Marcel;Anderson, Kari J.;Beecham, Gary;Berg, Daniela;Biernacka, Joanna M.;Brice, Alexis;DeStefano, Anita L.;Do, Chuong B.;Eriksson, Nicholas;Factor, Stewart A.;Farrer, Matthew J.;Foroud, Tatiana;Gasser, Thomas;Hamza, Taye;Hardy, John A.;Heutink, Peter;Hill-Burns, Erin M.;Klein, Christine;Latourelle, Jeanne C.;Maraganore, Demetrius M.;Martin, Eden R.;Martinez, Maria;Myers, Richard H.;Nalls, Michael A.;Pankratz, Nathan;Payami, Haydeh;Satake, Wataru;Scott, William K.;Sharma, Manu;Singleton, Andrew B.;Stefansson, Kari;Toda, Tatsushi;Tung, Joyce Y.;Vance, Jeffery;Wood, Nick W.;Zabetian, Cyrus P.;Young, Peter;Tanzi, Rudolph E.;Khoury, Muin J.;Zipp, Frauke;Lehrach, Hans;Ioannidis, John P. A.;Bertram, Lars; Corporate Authors(s) : 23andMe, The Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium;The International Parkinson's Disease Genomics Consortium (IPDGC);The Parkinson's Disease GWAS Consortium;The Wellcome Trust Case Control Consortium 2 (WTCCC2); Published Date : Mar 15 2012 Source : PLoS Genet. 2012; 8(3). URL : https://stacks.cdc.gov/view/cdc/8103 Lill, Christina M. et al. (2012). Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. 8(3). Lill, Christina M. et al. "Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database" 8, no. 3 (2012) Lill, Christina M. et al. "Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database" vol. 8, no. 3, 2012 Export RIS Citation Information.

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Lill, Christina M. ;

Roehr, Johannes T.

Mar 15 2012 | PLoS Genet. 2012; 8(3).

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More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD). To facilitate the inter...
Rare Copy Number Variants Implicated in Posterior Urethral Valves

CITE Title : Rare Copy Number Variants Implicated in Posterior Urethral Valves Personal Author(s) : Boghossian, Nansi S.;Sicko, Robert J.;Kay, Denise M.;Rigler, Shannon L.;Caggana, Michele;Tsai, Michael Y.;Yeung, Edwina H.;Pankratz, Nathan;Cole, Benjamin R.;Druschel, Charlotte M.;Romitti, Paul A.;Browne, Marilyn L.;Fan, Ruzong;Liu, Aiyi;Brody, Lawrence C.;Mills, James L.; Published Date : 3 2016;3-2016; Source : Am J Med Genet A. 170(3):622-633 URL : https://stacks.cdc.gov/view/cdc/82848 Boghossian, Nansi S. et al. (2016). Rare Copy Number Variants Implicated in Posterior Urethral Valves. 170(3). Boghossian, Nansi S. et al. "Rare Copy Number Variants Implicated in Posterior Urethral Valves" 170, no. 3 (2016) Boghossian, Nansi S. et al. "Rare Copy Number Variants Implicated in Posterior Urethral Valves" vol. 170, no. 3, 2016 Export RIS Citation Information.

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Boghossian, Nansi S. ;

Sicko, Robert J.

3 2016 | Am J Med Genet A. 170(3):622-633

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The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isola...
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...