Publications:

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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: FBN1: 3386G>A; Cys1129Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Molecular Genetics of Marfan Syndrome.

International Journal Of Medical Sciences

Du, Qiu Q; Zhang, Dingding D; Zhuang, Yue Y; Xia, Qiongrong Q; Wen, Taishen T; Jia, Haiping H

Publication Date: 2021

Variant appearance in text: FBN1: C1129Y

PubMed Link: 34220303

Variant Present in the following documents:

• Main text
• ijmsv18p2752.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: 3386G>A; C1129Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome.

Molecular Medicine Reports

Zhang, Miao M; Zhou, Yaqi Y; Peng, Yang Y; Jin, Lijun L

Publication Date: 2018-07

Variant appearance in text: FBN: 3386G>A

PubMed Link: 29845260

Variant Present in the following documents:

• Main text
• mmr-18-01-0877.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs137854482

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics

Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-Béroud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M

Publication Date: 2006-10

Variant appearance in text: FBN1: C1129Y

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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