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: TTN: G18127A; rs371971395

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D

Publication Date: 2019-03

Variant appearance in text: TTN: 54380G>C; G18127A

PubMed Link: 29961767

Variant Present in the following documents:

• Main text
• nihms-1594241.pdf

View BVdb publication page