Publications:

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

Nature Communications

Odelin, Gaëlle G; Faucherre, Adèle A; Marchese, Damien D; Pinard, Amélie A; Jaouadi, Hager H; Le Scouarnec, Solena S; , ; Chiarelli, Raphaël R; Achouri, Younes Y; Faure, Emilie E; Herbane, Marine M; Théron, Alexis A; Avierinos, Jean-François JF; Jopling, Chris C; Collod-Béroud, Gwenaëlle G; Rezsohazy, René R; Zaffran, Stéphane S

Publication Date: 2023-03-20

Variant appearance in text: NOTCH1: Pro649Thr; rs780710009

PubMed Link: 36941270

Variant Present in the following documents:

• Main text
• 41467_2023_Article_37110.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NOTCH1: 1945C>A; Pro649Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research.

Frontiers In Genetics

Cui, Yunlong Y; Li, Hongfeng H; Liu, Pengfei P; Wang, Hailong H; Zhang, Zhenzhen Z; Qu, Hongzhu H; Tian, Caijuan C; Fang, Xiangdong X

Publication Date: 2022

Variant appearance in text: NOTCH1: 1945C>A; Pro649Thr

PubMed Link: 36685970

Variant Present in the following documents:

• Table4.xlsx, sheet 1

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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: P649T; rs780710009

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: NOTCH1: P649T

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 25

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