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University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study 1
UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. 1

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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.

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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...
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...