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: ASB10: 215G>A; Arg72His
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: ASB10: R72H; rs104886488
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: ASB10: 215G>A; R72H; rs104886488
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ASB10: R72H; rs104886488
Analysis of ASB10 variants in open angle glaucoma.
Human Molecular Genetics
Fingert, John H JH; Roos, Ben R BR; Solivan-Timpe, Frances F; Miller, Kathy A KA; Oetting, Thomas A TA; Wang, Kai K; Kwon, Young H YH; Scheetz, Todd E TE; Stone, Edwin M EM; Alward, Wallace L M WL
Variants in ASB10 are associated with open-angle glaucoma.
Human Molecular Genetics
Pasutto, Francesca F; Keller, Kate E KE; Weisschuh, Nicole N; Sticht, Heinrich H; Samples, John R JR; Yang, Yong-Feng YF; Zenkel, Matthias M; Schlötzer-Schrehardt, Ursula U; Mardin, Christian Y CY; Frezzotti, Paolo P; Edmunds, Beth B; Kramer, Patricia L PL; Gramer, Eugen E; Reis, André A; Acott, Ted S TS; Wirtz, Mary K MK