Publications:

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: MYH7: 3853+7C>T

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

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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: 3853+7C>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Plos One

Sicko, Robert J RJ; Browne, Marilyn L ML; Rigler, Shannon L SL; Druschel, Charlotte M CM; Liu, Gang G; Fan, Ruzong R; Romitti, Paul A PA; Caggana, Michele M; Kay, Denise M DM; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2016

Variant appearance in text: MYH7: 3853+7C>T; rs45467397

PubMed Link: 27788187

Variant Present in the following documents:

• Main text
• pone.0165174.pdf

View BVdb publication page