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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

:

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...
Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy

CITE Title : Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy Personal Author(s) : Purnell, Shawn M.;Bleyl, Steven B.;Bonkowsky, Joshua L.; Published Date : Feb 10 2014 Source : Pediatr Neurol. 2014; 50(6):608-611. URL : https://stacks.cdc.gov/view/cdc/29964 Purnell, Shawn M. et al. (2014). Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy. 50(6). Purnell, Shawn M. and Bleyl, Steven B. and Bonkowsky, Joshua L. "Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy" 50, no. 6 (2014) Purnell, Shawn M. et al. "Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy" vol. 50, no. 6, 2014 Export RIS Citation Information.

:

Purnell, Shawn M. ;

Bleyl, Steven B.

Feb 10 2014 | Pediatr Neurol. 2014; 50(6):608-611.

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BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few treatments, and a majority of patients do not receive ...
Exome sequencing: value is in the eye of the beholder

CITE Title : Exome sequencing: value is in the eye of the beholder Personal Author(s) : Grosse, Scott D.;Rasmussen, Sonja A.; Published Date : October 14 2019 Source : Genet Med. 22(2):280-282 URL : https://stacks.cdc.gov/view/cdc/87769 Grosse, Scott D. and Rasmussen, Sonja A. (2019). Exome sequencing: value is in the eye of the beholder. 22(2). Grosse, Scott D. and Rasmussen, Sonja A. "Exome sequencing: value is in the eye of the beholder" 22, no. 2 (2019) Grosse, Scott D. and Rasmussen, Sonja A. "Exome sequencing: value is in the eye of the beholder" vol. 22, no. 2, 2019 Export RIS Citation Information.

:

Grosse, Scott D. ;

Rasmussen, Sonja A.

October 14 2019 | Genet Med. 22(2):280-282

No Description
Description and Pilot Results from a Novel Method for Evaluating Return of Incidental Findings from Next Generation Sequencing Technologies

CITE Title : Description and Pilot Results from a Novel Method for Evaluating Return of Incidental Findings from Next Generation Sequencing Technologies Personal Author(s) : Goddard, Katrina A.B.;Whitlock, Evelyn P.;Berg, Jonathan S.;Williams, Marc S.;Webber, Elizabeth M.;Webster, Jennifer A.;Lin, Jennifer S.;Schrader, Kasmintan A.;Campos-Outcalt, Doug;Offit, Kenneth;Feigelson, Heather Spencer;Hollombe, Celine; Published Date : 9 2013;9-2013; Source : Genet Med. 15(9):721-728 URL : https://stacks.cdc.gov/view/cdc/29851 Goddard, Katrina A.B. et al. (2013). Description and Pilot Results from a Novel Method for Evaluating Return of Incidental Findings from Next Generation Sequencing Technologies. 15(9). Goddard, Katrina A.B. et al. "Description and Pilot Results from a Novel Method for Evaluating Return of Incidental Findings from Next Generation Sequencing Technologies" 15, no. 9 (2013) Goddard, Katrina A.B. et al. "Description and Pilot Results from a Novel Method for Evaluating Return of Incidental Findings from Next Generation Sequencing Technologies" vol. 15, no. 9, 2013 Export RIS Citation Information.

:

Goddard, Katrina A.B. ;

Whitlock, Evelyn P.

9 2013 | Genet Med. 15(9):721-728

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PurposeTo develop, operationalize, and pilot test a transparent, reproducible, and evidence informed method to qualify when to report incidental findi...
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

CITE Title : Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate Personal Author(s) : Leslie, Elizabeth J.;Carlson, Jenna C.;Shaffer, John R.;Buxó, Carmen J.;Castilla, Eduardo E.;Christensen, Kaare;Deleyiannis, Frederic W.B.;Field, L. Leigh;Hecht, Jacqueline T.;Moreno, Lina;Orioli, Ieda M.;Padilla, Carmencita;Vieira, Alexandre R.;Wehby, George L.;Feingold, Eleanor;Weinberg, Seth M.;Murray, Jeffrey C.;Marazita, Mary L.; Published Date : 6 2017;6-2017; Source : Am J Med Genet A. 173(6):1531-1538 URL : https://stacks.cdc.gov/view/cdc/45908 Leslie, Elizabeth J. et al. (2017). Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. 173(6). Leslie, Elizabeth J. et al. "Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate" 173, no. 6 (2017) Leslie, Elizabeth J. et al. "Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate" vol. 173, no. 6, 2017 Export RIS Citation Information.

:

Leslie, Elizabeth J. ;

Carlson, Jenna C.

6 2017 | Am J Med Genet A. 173(6):1531-1538

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Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide asso...
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

:

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

:

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

:

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