Publications:

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH6: Glu1885Lys

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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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

PubMed Link: 32233023

Variant Present in the following documents:

• Main text

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A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.

European Journal Of Human Genetics : Ejhg

Schipper, Tom T; Van Poucke, Mario M; Sonck, Laurien L; Smets, Pascale P; Ducatelle, Richard R; Broeckx, Bart J G BJG; Peelman, Luc J LJ

Publication Date: 2019-11

Variant appearance in text: MYH6: 5653G>A; Glu1885Lys; rs760353963

PubMed Link: 31164718

Variant Present in the following documents:

• Main text

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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

PubMed Link: 27760138

Variant Present in the following documents:

• Main text
• pgen.1006335.s013.xls, sheet 1
• pgen.1006335.s011.xls, sheet 1
• pgen.1006335.pdf

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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

PubMed Link: 26284702

Variant Present in the following documents:

• Main text

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