Publications:

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: MYBPC3: 1604T>C; L535P

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.

Nucleus (Austin, Tex.)

Brayson, Daniel D; Shanahan, Catherine M CM

Publication Date: 2017-01-02

Variant appearance in text: cMyBP-C: L535P

PubMed Link: 28125396

Variant Present in the following documents:

• Main text
• kncl-08-01-1260798.pdf

View BVdb publication page