Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MYBPC3: E894D; rs369289966

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYBPC3: 2682G>T; Glu894Asp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Journal Of The American Heart Association

Smith, Emily E; Thompson, Paul D PD; Burke-Martindale, Carolyn C; Weissler-Snir, Adaya A

Publication Date: 2022-05-03

Variant appearance in text: MYBPC3: 2682G>T

PubMed Link: 35470680

Variant Present in the following documents:

• JAH3-11-e024501-s001.pdf
• JAH3-11-e024501.pdf

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications

Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW

Publication Date: 2015-11-02

Variant appearance in text: rs369289966

PubMed Link: 26522830

Variant Present in the following documents:

• ncomms9718-s2.xlsx, sheet 4
• ncomms9718-s2.xlsx, sheet 2
• ncomms9718-s2.xlsx, sheet 3

View BVdb publication page