Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CDH15: 178C>T; Arg60Cys; rs121434539
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: CDH15: R60C; rs121434539
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
American Journal Of Human Genetics
Bhalla, Kavita K; Luo, Yue Y; Buchan, Tim T; Beachem, Michael A MA; Guzauskas, Gregory F GF; Ladd, Sydney S; Bratcher, Shelly J SJ; Schroer, Richard J RJ; Balsamo, Janne J; DuPont, Barbara R BR; Lilien, Jack J; Srivastava, Anand K AK