Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.
Journal Of The Endocrine Society
Clarke, Callisia N CN; Katsonis, Panagiotis P; Hsu, Teng-Kuei TK; Koire, Amanda M AM; Silva-Figueroa, Angelica A; Christakis, Ioannis I; Williams, Michelle D MD; Kutahyalioglu, Merve M; Kwatampora, Lily L; Xi, Yuanxin Y; Lee, Jeffrey E JE; Koptez, E Scott ES; Busaidy, Naifa L NL; Perrier, Nancy D ND; Lichtarge, Olivier O
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Nature Genetics
Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bekheirnia, Mir Reza MR; Bekheirnia, Nasim N; Bainbridge, Matthew N MN; Gu, Shen S; Coban Akdemir, Zeynep Hande ZH; Gambin, Tomek T; Janzen, Nicolette K NK; Jhangiani, Shalini N SN; Muzny, Donna M DM; Michael, Mini M; Brewer, Eileen D ED; Elenberg, Ewa E; Kale, Arundhati S AS; Riley, Alyssa A AA; Swartz, Sarah J SJ; Scott, Daryl A DA; Yang, Yaping Y; Srivaths, Poyyapakkam R PR; Wenderfer, Scott E SE; Bodurtha, Joann J; Applegate, Carolyn D CD; Velinov, Milen M; Myers, Angela A; Borovik, Lior L; Craigen, William J WJ; Hanchard, Neil A NA; Rosenfeld, Jill A JA; Lewis, Richard Alan RA; Gonzales, Edmond T ET; Gibbs, Richard A RA; Belmont, John W JW; Roth, David R DR; Eng, Christine C; Braun, Michael C MC; Lupski, James R JR; Lamb, Dolores J DJ
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ