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: NOTCH1: A1778V; rs1422917398

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 5333C>T; A1778V

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia.

Cell Reports

Simeoni, Fabrizio F; Romero-Camarero, Isabel I; Camera, Francesco F; Amaral, Fabio M R FMR; Sinclair, Oliver J OJ; Papachristou, Evangelia K EK; Spencer, Gary J GJ; Lie-A-Ling, Michael M; Lacaud, Georges G; Wiseman, Daniel H DH; Carroll, Jason S JS; Somervaille, Tim C P TCP

Publication Date: 2021-09-21

Variant appearance in text: NOTCH1: A1778V

PubMed Link: 34551306

Variant Present in the following documents:

• mmc5.pdf
• mmc1.pdf

View BVdb publication page