Publications:

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Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Journal Of The American Heart Association

Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G

Publication Date: 2022-01-04

Variant appearance in text: MYBPC3: 3682C>T; Arg1228Cys

PubMed Link: 34935411

Variant Present in the following documents:

• JAH3-11-e022854-s001.pdf
• JAH3-11-e022854.pdf

View BVdb publication page

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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry

Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J

Publication Date: 2021-07

Variant appearance in text: MYBPC3: 3682C>T

PubMed Link: 34097875

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• mmc1.pdf

View BVdb publication page

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Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation

Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP

Publication Date: 2019-07-16

Variant appearance in text: MYBPC3: 3682C>T; Arg1228Cys

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-s001.pdf

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYBPC3: 3682C>T; Arg1228Cys; rs201312636

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: MYBPC3: Arg1228Cys

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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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: 3682C>T; Arg1228Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: MYBPC3: R1228C; rs201312636

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Molecular Genetics & Genomic Medicine

Nouhravesh, Nina N; Ahlberg, Gustav G; Ghouse, Jonas J; Andreasen, Charlotte C; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Weeke, Peter E PE; Olesen, Morten S MS

Publication Date: 2016-11

Variant appearance in text: MYBPC3: 3682C>T; R1228C

PubMed Link: 27896284

Variant Present in the following documents:

• Main text

View BVdb publication page

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Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

American Journal Of Human Genetics

Bick, Alexander G AG; Flannick, Jason J; Ito, Kaoru K; Cheng, Susan S; Vasan, Ramachandran S RS; Parfenov, Michael G MG; Herman, Daniel S DS; DePalma, Steven R SR; Gupta, Namrata N; Gabriel, Stacey B SB; Funke, Birgit H BH; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Aragam, Jayashri J; Taylor, Herman A HA; Fox, Ervin R ER; Newton-Cheh, Christopher C; Kathiresan, Sekar S; O'Donnell, Christopher J CJ; Wilson, James G JG; Altshuler, David M DM; Hirschhorn, Joel N JN; Seidman, J G JG; Seidman, Christine C

Publication Date: 2012-09-07

Variant appearance in text: MYBPC3: 3682C>T; Arg1228Cys

PubMed Link: 22958901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic testing for dilated cardiomyopathy in clinical practice.

Journal Of Cardiac Failure

Lakdawala, Neal K NK; Funke, Birgit H BH; Baxter, Samantha S; Cirino, Allison L AL; Roberts, Amy E AE; Judge, Daniel P DP; Johnson, Nicole N; Mendelsohn, Nancy J NJ; Morel, Chantal C; Care, Melanie M; Chung, Wendy K WK; Jones, Carolyn C; Psychogios, Apostolos A; Duffy, Elizabeth E; Rehm, Heidi L HL; White, Emily E; Seidman, J G JG; Seidman, Christine E CE; Ho, Carolyn Y CY

Publication Date: 2012-04

Variant appearance in text: MYBPC3: R1228C

PubMed Link: 22464770

Variant Present in the following documents:

• Main text

View BVdb publication page

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