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: ADGRG6: A653T; rs184235213

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.

Journal Of Clinical Immunology

Ouarhache, Maryem M; Marquet, Sandrine S; Frade, Amanda Farage AF; Ferreira, Ariela Mota AM; Ianni, Barbara B; Almeida, Rafael Ribeiro RR; Nunes, Joao Paulo Silva JPS; Ferreira, Ludmila Rodrigues Pinto LRP; Rigaud, Vagner Oliveira-Carvalho VO; Cândido, Darlan D; Mady, Charles C; Zaniratto, Ricardo Costa Fernandes RCF; Buck, Paula P; Torres, Magali M; Gallardo, Frederic F; Andrieux, Pauline P; Bydlowsky, Sergio S; Levy, Debora D; Abel, Laurent L; Cardoso, Clareci Silva CS; Santos-Junior, Omar Ribeiro OR; Oliveira, Lea Campos LC; Oliveira, Claudia Di Lorenzo CDL; Nunes, Maria Do Carmo MDC; Cobat, Aurelie A; Kalil, Jorge J; Ribeiro, Antonio Luiz AL; Sabino, Ester Cerdeira EC; Cunha-Neto, Edecio E; Chevillard, Christophe C

Publication Date: 2021-07

Variant appearance in text: rs184235213

PubMed Link: 33660144

Variant Present in the following documents:

• Main text
• 10875_2021_Article_1000.pdf

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: GPR126: A653T; rs184235213

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page