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: 4729T>G; Cys1577Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 4729T>G; C1577G

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: C1577G

PubMed Link: 25979247

Variant Present in the following documents:

• Main text
• ddv181.pdf

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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Science Translational Medicine

Loeys, B L BL; Gerber, E E EE; Riegert-Johnson, D D; Iqbal, S S; Whiteman, P P; McConnell, V V; Chillakuri, C R CR; Macaya, D D; Coucke, P J PJ; De Paepe, A A; Judge, D P DP; Wigley, F F; Davis, E C EC; Mardon, H J HJ; Handford, P P; Keene, D R DR; Sakai, L Y LY; Dietz, H C HC

Publication Date: 2010-03-17

Variant appearance in text: FBN1: 4729T>G; Cys1577Gly

PubMed Link: 20375004

Variant Present in the following documents:

• Main text

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