Publications:

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Npj Genomic Medicine

Lesurf, Robert R; Said, Abdelrahman A; Akinrinade, Oyediran O; Breckpot, Jeroen J; Delfosse, Kathleen K; Liu, Ting T; Yao, Roderick R; Persad, Gabrielle G; McKenna, Fintan F; Noche, Ramil R RR; Oliveros, Winona W; Mattioli, Kaia K; Shah, Shreya S; Miron, Anastasia A; Yang, Qian Q; Meng, Guoliang G; Yue, Michelle Chan Seng MCS; Sung, Wilson W L WWL; Thiruvahindrapuram, Bhooma B; Lougheed, Jane J; Oechslin, Erwin E; Mondal, Tapas T; Bergin, Lynn L; Smythe, John J; Jayappa, Shashank S; Rao, Vinay J VJ; Shenthar, Jayaprakash J; Dhandapany, Perundurai S PS; Semsarian, Christopher C; Weintraub, Robert G RG; Bagnall, Richard D RD; Ingles, Jodie J; , ; Melé, Marta M; Maass, Philipp G PG; Ellis, James J; Scherer, Stephen W SW; Mital, Seema S

Publication Date: 2022-03-14

Variant appearance in text: MYH7: 1597A>G; I533V

PubMed Link: 35288587

Variant Present in the following documents:

• 41525_2022_288_MOESM2_ESM.xlsx, sheet 1

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: MYH7: 1597A>G; I533V

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 6

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH7: 1597A>G; Ile533Val

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYH7: I533V

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH7: 1597A>G; Ile533Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page