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: 6339T>G; Tyr2113Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pathogenic variants that alter protein code often disrupt splicing.

Nature Genetics

Soemedi, Rachel R; Cygan, Kamil J KJ; Rhine, Christy L CL; Wang, Jing J; Bulacan, Charlston C; Yang, John J; Bayrak-Toydemir, Pinar P; McDonald, Jamie J; Fairbrother, William G WG

Publication Date: 2017-06

Variant appearance in text: FBN1: 6339T>G; Y2113*

PubMed Link: 28416821

Variant Present in the following documents:

• NIHMS861030-supplement-4.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: Tyr2113X

PubMed Link: 26684006

Variant Present in the following documents:

• Main text
• 12881_2015_Article_260.pdf

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A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

Molecular Vision

Dong, Jiamei J; Bu, Juan J; Du, Wei W; Li, Yuan Y; Jia, Yanlei Y; Li, Jianchang J; Meng, Xiaoli X; Yuan, Minghui M; Peng, Xiaojuan X; Zhou, Aimin A; Wang, Lejin L

Publication Date: 2012

Variant appearance in text: FBN1: Y2113X

PubMed Link: 22262941

Variant Present in the following documents:

• Main text
• mv-v18-81.pdf

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A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Genes & Development

Caputi, Massimo M; Kendzior, Raymond J RJ; Beemon, Karen L KL

Publication Date: 2002-07-15

Variant appearance in text: FBN1: Y2113X

PubMed Link: 12130535

Variant Present in the following documents:

• Main text

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