A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Npj Genomic Medicine
Loureiro, Livia O LO; Howe, Jennifer L JL; Reuter, Miriam S MS; Iaboni, Alana A; Calli, Kristina K; Roshandel, Delnaz D; Pritišanac, Iva I; Moses, Alan A; Forman-Kay, Julie D JD; Trost, Brett B; Zarrei, Mehdi M; Rennie, Olivia O; Lau, Lynette Y S LYS; Marshall, Christian R CR; Srivastava, Siddharth S; Godlewski, Brianna B; Buttermore, Elizabeth D ED; Sahin, Mustafa M; Hartley, Dean D; Frazier, Thomas T; Vorstman, Jacob J; Georgiades, Stelios S; Lewis, Suzanne M E SME; Szatmari, Peter P; Bradley, Clarrisa A Lisa CAL; Tabet, Anne-Claude AC; Willems, Marjolaine M; Lumbroso, Serge S; Piton, Amélie A; Lespinasse, James J; Delorme, Richard R; Bourgeron, Thomas T; Anagnostou, Evdokia E; Scherer, Stephen W SW
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
Nature Communications
Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
Molecular Autism
De Rubeis, Silvia S; Siper, Paige M PM; Durkin, Allison A; Weissman, Jordana J; Muratet, François F; Halpern, Danielle D; Trelles, Maria Del Pilar MDP; Frank, Yitzchak Y; Lozano, Reymundo R; Wang, A Ting AT; Holder, J Lloyd JL; Betancur, Catalina C; Buxbaum, Joseph D JD; Kolevzon, Alexander A
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Nature Communications
O'Roak, B J BJ; Stessman, H A HA; Boyle, E A EA; Witherspoon, K T KT; Martin, B B; Lee, C C; Vives, L L; Baker, C C; Hiatt, J B JB; Nickerson, D A DA; Bernier, R R; Shendure, J J; Eichler, E E EE