Premium
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
Author(s) -
Hanyin Cheng,
Simona Capponi,
Emma Wakeling,
Elaine Marchi,
Li Quan,
Mengge Zhao,
Chunhua Weng,
Piatek G Stefan,
Helena Ahlfors,
Robert Kleyner,
Alan F. Rope,
Aimé Lumaka,
Prosper Tshilobo Lukusa,
Koenraad Devriendt,
Joris Robert Vermeesch,
Jennifer E. Posey,
Elizabeth Palmer,
Lucinda Murray,
Eyby Leon,
Jullianne Diaz,
Lisa Worgan,
Amali Mallawaarachchi,
Julie Vogt,
Sonja A de Munnik,
Lauren Dreyer,
Gareth Baynam,
Lisa Ewans,
Zornitza Stark,
Sebastian Lunke,
Ana Gonçalves,
Gabriela Soares,
Jorge Oliveira,
Emily Fassi,
Marcia Willing,
Jeff L. Waugh,
Laurence Faivre,
JeanBaptiste Rivière,
Sébastien Moutton,
Shehla Mohammed,
Katelyn Payne,
Laurence Walsh,
Amber Begtrup,
María J. Guillen Sacoto,
Ganka Douglas,
Nora Alexander,
Michael F. Buckley,
Paul R. Mark,
Lesley C. Adès,
Sarah A. Sandaradura,
James R. Lupski,
Tony Roscioli,
Pankaj B. Agrawal,
Antonie D. Kline,
Kai Wang,
HT Marc Timmers,
Gholson J. Lyon
Publication year - 2020
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24003
Subject(s) - missense mutation , biology , pathogenicity , phenotype , art history , genetics , classics , art , gene , microbiology and biotechnology