Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Genome Medicine
Oberg, Jennifer A JA; Glade Bender, Julia L JL; Sulis, Maria Luisa ML; Pendrick, Danielle D; Sireci, Anthony N AN; Hsiao, Susan J SJ; Turk, Andrew T AT; Dela Cruz, Filemon S FS; Hibshoosh, Hanina H; Remotti, Helen H; Zylber, Rebecca J RJ; Pang, Jiuhong J; Diolaiti, Daniel D; Koval, Carrie C; Andrews, Stuart J SJ; Garvin, James H JH; Yamashiro, Darrell J DJ; Chung, Wendy K WK; Emerson, Stephen G SG; Nagy, Peter L PL; Mansukhani, Mahesh M MM; Kung, Andrew L AL