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: COL3A1: 665G>A; Gly222Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

American Journal Of Medical Genetics. Part A

Yamaguchi, Tomomi T; Hayashi, Shujiro S; Hayashi, Daisuke D; Matsuyama, Takeshi T; Koitabashi, Norimichi N; Ogiwara, Kenichi K; Noda, Masaaki M; Nakada, Chiai C; Fujiki, Shinya S; Furutachi, Akira A; Tanabe, Yasuhiko Y; Yamanaka, Michiko M; Ishikawa, Aki A; Mizukami, Miyako M; Mizuguchi, Asako A; Sugiura, Kazumitsu K; Sumi, Makoto M; Yamazawa, Hirokuni H; Izawa, Atsushi A; Wada, Yuko Y; Fujikawa, Tomomi T; Takiguchi, Yuri Y; Wakui, Keiko K; Takano, Kyoko K; Nishio, Shin-Ya SY; Kosho, Tomoki T

Publication Date: 2022-10-03

Variant appearance in text: COL3A1: 665G>A; Gly222Asp

PubMed Link: 36189931

Variant Present in the following documents:

• Main text
• AJMG-191-37.pdf

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Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Orphanet Journal Of Rare Diseases

Adham, Salma S; Trystram, Denis D; Albuisson, Juliette J; Domigo, Valérie V; Legrand, Anne A; Jeunemaitre, Xavier X; Frank, Michael M

Publication Date: 2018-06-25

Variant appearance in text: COL3A1: 665G>A; Gly222Asp

PubMed Link: 29940997

Variant Present in the following documents:

• Main text
• 13023_2018_Article_842.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: COL3A1: G222D

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Bmj Open

Ferré, François Côme FC; Frank, Michael M; Gogly, Bruno B; Golmard, Lisa L; Naveau, Adrien A; Chérifi, Hafida H; Emmerich, Joseph J; Gaultier, Frédérick F; Berdal, Ariane A; Jeunemaitre, Xavier X; Fournier, Benjamin P J BP

Publication Date: 2012

Variant appearance in text: COL3A1: 665G>A; Gly222Asp

PubMed Link: 22492385

Variant Present in the following documents:

• Main text
• bmjopen-2011-000705.draft_revisions.pdf
• bmjopen-2011-000705.pdf

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