Publications:

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association

Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H

Publication Date: 2023-04-12

Variant appearance in text: FBN1: Cys1472Arg; rs1555397403

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625-s001.pdf
• JAH3-12-e028625.pdf

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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: 4414T>C; Cys1472Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.

Bmc Medical Genetics

Niu, Yuping Y; Huang, Sexin S; Wang, Zeyu Z; Xu, Peiwen P; Wang, Lijuan L; Li, Jie J; Gao, Ming M; Gao, Xuan X; Gao, Yuan Y

Publication Date: 2020-10-21

Variant appearance in text: FBN1: Cys1472Arg

PubMed Link: 33087052

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1148.pdf

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