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: AEBP1: R534C; rs141206792
Cellular origins and genetic landscape of cutaneous gamma delta T cell lymphomas.
Nature Communications
Daniels, Jay J; Doukas, Peter G PG; Escala, Maria E Martinez MEM; Ringbloom, Kimberly G KG; Shih, David J H DJH; Yang, Jingyi J; Tegtmeyer, Kyle K; Park, Joonhee J; Thomas, Jane J JJ; Selli, Mehmet E ME; Altunbulakli, Can C; Gowthaman, Ragul R; Mo, Samuel H SH; Jothishankar, Balaji B; Pease, David R DR; Pro, Barbara B; Abdulla, Farah R FR; Shea, Christopher C; Sahni, Nidhi N; Gru, Alejandro A AA; Pierce, Brian G BG; Louissaint, Abner A; Guitart, Joan J; Choi, Jaehyuk J
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS