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: Cys1253_Arg1254insGlyGlyIleTyrValCys

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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Hypertrophic Cardiomyopathy Gene Testing: Go Big?

Circulation. Cardiovascular Genetics

Puckelwartz, Megan J MJ; McNally, Elizabeth M EM

Publication Date: 2017-10

Variant appearance in text: MYBPC3: Cys1253_Arg1254insGlyGlyIleTyrValCys

PubMed Link: 29030407

Variant Present in the following documents:

• Main text

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A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Circulation. Cardiovascular Genetics

Cirino, Allison L AL; Lakdawala, Neal K NK; McDonough, Barbara B; Conner, Lauren L; Adler, Dale D; Weinfeld, Mark M; O'Gara, Patrick P; Rehm, Heidi L HL; Machini, Kalotina K; Lebo, Matthew M; Blout, Carrie C; Green, Robert C RC; MacRae, Calum A CA; Seidman, Christine E CE; Ho, Carolyn Y CY; ,

Publication Date: 2017-10

Variant appearance in text: MYBPC3: Cys1253_Arg1254insGlyGlyIleTyrValCys

PubMed Link: 29030401

Variant Present in the following documents:

• Main text

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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: MYBPC3: Cys1253_Arg1254insGlyGlyIleTyrValCys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page