Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: RET: M888V; rs774930499
Comprehensive Immune Profiling of Medullary Thyroid Cancer.
Thyroid : Official Journal Of The American Thyroid Association
Pozdeyev, Nikita N; Erickson, Timothy A TA; Zhang, Lian L; Ellison, Kim K; Rivard, Christopher J CJ; Sams, Sharon S; Hirsch, Fred R FR; Haugen, Bryan R BR; French, Jena D JD
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA