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: 7936T>C; Cys2646Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 7936T>C; Cys2646Arg; rs1555393863

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Differential diagnosis of Marfan syndrome based on ocular biologic parameters.

Annals Of Translational Medicine

Wang, Yiyao Y; Lian, Zhangkai Z; Zhou, Yijing Y; Li, Xuepei X; Wu, Jieyi J; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D

Publication Date: 2020-11

Variant appearance in text: FBN1: 7936T>C

PubMed Link: 33313099

Variant Present in the following documents:

• atm-08-21-1354-supplementary.pdf

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: FBN1: Cys2646Arg

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.xlsx, sheet 1

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