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
Publication Date: 2020-06
Variant appearance in text: MYH6: 5653G>A; Glu1885Lys
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
Plos Genetics
Preuss, Christoph C; Capredon, Melanie M; Wünnemann, Florian F; Chetaille, Philippe P; Prince, Andrea A; Godard, Beatrice B; Leclerc, Severine S; Sobreira, Nara N; Ling, Hua H; Awadalla, Philip P; Thibeault, Maryse M; Khairy, Paul P; , ; Samuels, Mark E ME; Andelfinger, Gregor G
Publication Date: 2016-10
Variant appearance in text: MYH6: E1885K; rs760353963
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
American Journal Of Medical Genetics. Part A
Bowles, Neil E NE; Jou, Chuanchau J CJ; Arrington, Cammon B CB; Kennedy, Brett J BJ; Earl, Aubree A; Matsunami, Norisada N; Meyers, Lindsay L LL; Etheridge, Susan P SP; Saarel, Elizabeth V EV; Bleyl, Steven B SB; Yost, H Joseph HJ; Yandell, Mark M; Leppert, Mark F MF; Tristani-Firouzi, Martin M; Gruber, Peter J PJ; ,
Publication Date: 2015-12
Variant appearance in text: MYH6: 5653G>A; Glu1885Lys