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: T9376R; rs749875409

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Nature Communications

Li, Renda R; Yang, Zhenlin Z; Shao, Fei F; Cheng, Hong H; Wen, Yaru Y; Sun, Sijin S; Guo, Wei W; Li, Zitong Z; Zhang, Fan F; Xue, Liyan L; Bi, Nan N; Wang, Jie J; Sun, Yingli Y; Li, Yin Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; Shi, Susheng S; Gao, Yibo Y; He, Jie J

Publication Date: 2021-06-18

Variant appearance in text: TTN: 28127C>G

PubMed Link: 34145257

Variant Present in the following documents:

• 41467_2021_24043_MOESM5_ESM.xlsx, sheet 1

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Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: TTN: 28127C>G; Thr9376Arg

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993.pdf
• JAH3-8-e012993-s001.pdf

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Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

Journal Of The American Heart Association

Frustaci, Andrea A; De Luca, Alessandro A; Guida, Valentina V; Biagini, Tommaso T; Mazza, Tommaso T; Gaudio, Carlo C; Letizia, Claudio C; Russo, Matteo Antonio MA; Galea, Nicola N; Chimenti, Cristina C

Publication Date: 2018-02-10

Variant appearance in text: TTN: 28127C>G; T9376R; rs749875409

PubMed Link: 29440008

Variant Present in the following documents:

• Main text
• JAH3-7-e008068.pdf

View BVdb publication page