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: 4691G>A; Cys1564Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 4691G>A; Cys1564Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Orphanet Journal Of Rare Diseases

Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K

Publication Date: 2020-10-15

Variant appearance in text: FBN1: 4691G>A; Cys1564Tyr

PubMed Link: 33059708

Variant Present in the following documents:

• 13023_2020_1569_MOESM1_ESM.pdf

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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: 4691G>A; C1564Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics

Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA

Publication Date: 2015-08-01

Variant appearance in text: FBN1: C1564Y

PubMed Link: 25979247

Variant Present in the following documents:

• Main text
• ddv181.pdf

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