Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.07.013
Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B