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; ,
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Plos Genetics
Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2020-12
Variant appearance in text: MC1R: 892T>C; Tyr298His
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Endocrinology
Tan, Karen K; Pogozheva, Irina D ID; Yeo, Giles S H GS; Hadaschik, Dirk D; Keogh, Julia M JM; Haskell-Leuvano, Carrie C; O'Rahilly, Stephen S; Mosberg, Henry I HI; Farooqi, I Sadaf IS