Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

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.

American journal of human genetics, 2024-09, Vol.111 (9), p.2044-2058 [Periódico revisado por pares]

Elsevier Inc

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