Richards, Sue1; Aziz, Nazneen2,16; Bale, Sherri3; Bick, David4; Das, Soma5; Gastier-Foster, Julie6,7,8; Grody, Wayne W.9,10,11; Hegde, Madhuri12; Lyon, Elaine13; Spector, Elaine14; Voelkerding, Karl13; Rehm, Heidi L.15
Standards and guidelines for the interpretation of sequence variants:​ a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology
Genet Med. May 2015;​17(5):​405-424