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: GAA: R436W; rs777372252
Clonal dynamics of haematopoiesis across the human lifespan.
Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
International Journal Of Neonatal Screening
Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D