Publications:

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: FBN1: 4937G>A; Cys1646Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: N/A

PubMed Link: 36413997

Variant Present in the following documents:

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 4937G>A; C1646Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Systems pharmacology-based integration of human and mouse data for drug repurposing to treat thoracic aneurysms.

Jci Insight

Hansen, Jens J; Galatioto, Josephine J; Caescu, Cristina I CI; Arnaud, Pauline P; Calizo, Rhodora C RC; Spronck, Bart B; Murtada, Sae-Il SI; Borkar, Roshan R; Weinberg, Alan A; Azeloglu, Evren U EU; Bintanel-Morcillo, Maria M; Gallo, James M JM; Humphrey, Jay D JD; Jondeau, Guillaume G; Boileau, Catherine C; Ramirez, Francesco F; Iyengar, Ravi R

Publication Date: 2019-06-06

Variant appearance in text: FBN1: Cys1646Tyr

PubMed Link: 31167969

Variant Present in the following documents:

• Main text

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