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: DNMT3A: P450S; rs1368522288
Discovery of first-in-class reversible dual small molecule inhibitors against G9a and DNMTs in hematological malignancies.
Nature Communications
San José-Enériz, Edurne E; Agirre, Xabier X; Rabal, Obdulia O; Vilas-Zornoza, Amaia A; Sanchez-Arias, Juan A JA; Miranda, Estibaliz E; Ugarte, Ana A; Roa, Sergio S; Paiva, Bruno B; Estella-Hermoso de Mendoza, Ander A; Alvarez, Rosa María RM; Casares, Noelia N; Segura, Victor V; Martín-Subero, José I JI; Ogi, François-Xavier FX; Soule, Pierre P; Santiveri, Clara M CM; Campos-Olivas, Ramón R; Castellano, Giancarlo G; de Barrena, Maite Garcia Fernandez MGF; Rodriguez-Madoz, Juan Roberto JR; García-Barchino, Maria José MJ; Lasarte, Juan Jose JJ; Avila, Matias A MA; Martinez-Climent, Jose Angel JA; Oyarzabal, Julen J; Prosper, Felipe F
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y