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: 2495G>A; Cys832Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ

Publication Date: 2021-07

Variant appearance in text: FBN1: 2495G>A; Cys832Tyr

PubMed Link: 33824501

Variant Present in the following documents:

• NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf

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Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Molecular Medicine Reports

Zhou, Yijing Y; Guo, Dongwei D; Cao, Qianzhong Q; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D

Publication Date: 2021-04

Variant appearance in text: FBN1: Cys832Tyr

PubMed Link: 33576469

Variant Present in the following documents:

• Main text
• mmr-23-04-11914.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: FBN1: C832Y

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: FBN1: 2495G>A; Cys832Tyr

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FBN1: C832Y

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Bmc Genomics

Yao, Zizhen Z; Jaeger, Jochen C JC; Ruzzo, Walter L WL; Morale, Cecile Z CZ; Emond, Mary M; Francke, Uta U; Milewicz, Dianna M DM; Schwartz, Stephen M SM; Mulvihill, Eileen R ER

Publication Date: 2007-09-12

Variant appearance in text: FBN1: C832Y

PubMed Link: 17850668

Variant Present in the following documents:

• Main text

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