Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
American Journal Of Medical Genetics. Part A
Coban-Akdemir, Zeynep H ZH; Charng, Wu-Lin WL; Azamian, Mahshid M; Paine, Ingrid S IS; Punetha, Jaya J; Grochowski, Christopher M CM; Gambin, Tomasz T; Valdes, Santiago O SO; Cannon, Bryan B; Zapata, Gladys G; Hernandez, Patricia P PP; Jhangiani, Shalini S; Doddapaneni, Harsha H; Hu, Jianhong J; Boricha, Fatima F; Muzny, Donna M DM; Boerwinkle, Eric E; Yang, Yaping Y; Gibbs, Richard A RA; Posey, Jennifer E JE; Wehrens, Xander H T XHT; Belmont, John W JW; Kim, Jeffrey J JJ; Miyake, Christina Y CY; Lupski, James R JR; Lalani, Seema R SR
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04
Variant appearance in text: AKAP9: 11273G>A; R3758H
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: AKAP9: R3758H; rs141856443
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: AKAP9: R3758H; rs141856443