Citation
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., et al. (2021). Exome Sequencing of Child-Parent Trios with Bladder Exstrophy: Findings in 26 Children. American Journal of Medical Genetics, 185(10), 3028-3041. PMCID: PMC8446314Abstract
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 thought to be influenced by genetic variation with more recent studies suggesting a role for rare variants. As such, we conducted paired-end exome sequencing in 26 child/mother/father trios. Three children had rare (allele frequency URL
http://dx.doi.org/10.1002/ajmg.a.62439Reference Type
Journal ArticleYear Published
2021Journal Title
American Journal of Medical GeneticsAuthor(s)
Pitsava, GeorgiaFeldkamp, 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, Michael J.
McGoldrick, Daniel
Nickerson, Deborah A.
Finnell, Richard H.
Mullikin, James
Romitti, Paul A.
Mills, James L.