Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Dixit, Abhijit" or (type any "bookEditor issueEditor" and editor="Dixit, Abhijit") Add to list Journal Article A1 open access ACTB loss-of-function mutations result in a pleiotropic developmental disorder Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert (UGent) , Jill Clayton-Smith, Cristina Hernando Davalillo, et al. (2017) AMERICAN JOURNAL OF HUMAN GENETICS. 101(6). p.1021-1033 Add to list Journal Article A1 open access A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere (UGent) , Hannah Verdin (UGent) , L Therese Bergendahl, Alan Quigley, Joe Rainger, et al. (2016) AMERICAN JOURNAL OF HUMAN GENETICS. 98(5). p.981-992