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; ,
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Journal Of Neurology
Adams, David D; Ando, Yukio Y; Beirão, João Melo JM; Coelho, Teresa T; Gertz, Morie A MA; Gillmore, Julian D JD; Hawkins, Philip N PN; Lousada, Isabelle I; Suhr, Ole B OB; Merlini, Giampaolo G