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: 7094G>A; Cys2365Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: C2365Y

PubMed Link: 31830381

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: 7094G>A; C2365Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

Molecular Genetics & Genomic Medicine

Vanem, Thy Thy TT; Geiran, Odd Ragnar OR; Krohg-Sørensen, Kirsten K; Røe, Cecilie C; Paus, Benedicte B; Rand-Hendriksen, Svend S

Publication Date: 2018-11

Variant appearance in text: FBN1: 7094G>A; Cys2365Tyr

PubMed Link: 30393980

Variant Present in the following documents:

• MGG3-6-1114-s001.pdf

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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Bmc Medical Genetics

Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B

Publication Date: 2015-12-18

Variant appearance in text: FBN1: Cys2365Tyr

PubMed Link: 26684006

Variant Present in the following documents:

• Main text
• 12881_2015_Article_260.pdf

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