Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09
Variant appearance in text: KMT2D: 709del; E237Sfs*24
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yap, Kai Lee KL; Johnson, Amy E Knight AEK; Fischer, David D; Kandikatla, Priscilla P; Deml, Jacea J; Nelakuditi, Viswateja V; Halbach, Sara S; Jeha, George S GS; Burrage, Lindsay C LC; Bodamer, Olaf O; Benavides, Valeria C VC; Lewis, Andrea M AM; Ellard, Sian S; Shah, Pratik P; Cody, Declan D; Diaz, Alejandro A; Devarajan, Aishwarya A; Truong, Lisa L; Greeley, Siri Atma W SAW; De LeĆ³-Crutchlow, Diva D DD; Edmondson, Andrew C AC; Das, Soma S; Thornton, Paul P; Waggoner, Darrel D; Del Gaudio, Daniela D
Publication Date: 2019-01
Variant appearance in text: KMT2D: 709del; Glu237Serfs*24