Publications:

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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: Arg1596Ter; rs113871094

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625.pdf
• JAH3-12-e028625-s001.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: 4786C>T; Arg1596Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Applying multi-omics techniques to the discovery of biomarkers for acute aortic dissection.

Frontiers In Cardiovascular Medicine

Hao, Xinyu X; Cheng, Shuai S; Jiang, Bo B; Xin, Shijie S

Publication Date: 2022

Variant appearance in text: FBN1: 4786C>T; Arg1596Ter

PubMed Link: 36588568

Variant Present in the following documents:

• Main text
• fcvm-09-961991.pdf

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Bioarchaeological evidence of one of the earliest Islamic burials in the Levant.

Communications Biology

Srigyan, Megha M; Bolívar, Héctor H; Ureña, Irene I; Santana, Jonathan J; Petersen, Andrew A; Iriarte, Eneko E; Kırdök, Emrah E; Bergfeldt, Nora N; Mora, Alice A; Jakobsson, Mattias M; Abdo, Khaled K; Braemer, Frank F; Smith, Colin C; Ibañez, Juan José JJ; Götherström, Anders A; Günther, Torsten T; Valdiosera, Cristina C

Publication Date: 2022-06-07

Variant appearance in text: rs113871094

PubMed Link: 35672445

Variant Present in the following documents:

• 42003_2022_3508_MOESM1_ESM.pdf

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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: 4786C>T; Arg1596*; rs113871094

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Acute Stanford type B aortic dissection-who benefits from genetic testing?

Journal Of Thoracic Disease

Erhart, Philipp P; Gieldon, Laura L; Ante, Marius M; Körfer, Daniel D; Strom, Tim T; Grond-Ginsbach, Caspar C; Böckler, Dittmar D

Publication Date: 2020-11

Variant appearance in text: FBN1: 4786C>T; Arg1596Ter; rs113871094

PubMed Link: 33282382

Variant Present in the following documents:

• Main text
• jtd-12-11-6806.pdf

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Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: R1596X

PubMed Link: 31830381

Variant Present in the following documents:

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Systems pharmacology-based integration of human and mouse data for drug repurposing to treat thoracic aneurysms.

Jci Insight

Hansen, Jens J; Galatioto, Josephine J; Caescu, Cristina I CI; Arnaud, Pauline P; Calizo, Rhodora C RC; Spronck, Bart B; Murtada, Sae-Il SI; Borkar, Roshan R; Weinberg, Alan A; Azeloglu, Evren U EU; Bintanel-Morcillo, Maria M; Gallo, James M JM; Humphrey, Jay D JD; Jondeau, Guillaume G; Boileau, Catherine C; Ramirez, Francesco F; Iyengar, Ravi R

Publication Date: 2019-06-06

Variant appearance in text: FBN1: 4786C>T; Arg1596*

PubMed Link: 31167969

Variant Present in the following documents:

• Main text

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The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Medicine

Seo, Go Hun GH; Kim, Yoon-Myung YM; Kang, Eungu E; Kim, Gu-Hwan GH; Seo, Eul-Ju EJ; Lee, Beom Hee BH; Choi, Jin-Ho JH; Yoo, Han-Wook HW

Publication Date: 2018-05

Variant appearance in text: FBN1: 4786C>T

PubMed Link: 29768367

Variant Present in the following documents:

• medi-97-e10767.pdf

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Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.

Molecular Medicine Reports

Han, Qian Q; Zhang, Wenwen W; Liu, Changjian C; Zhou, Min M; Ran, Feng F; Yi, Long L; Sun, Xitai X; Liu, Zhao Z

Publication Date: 2017-11

Variant appearance in text: FBN1: R1596X

PubMed Link: 28901506

Variant Present in the following documents:

• Main text
• mmr-16-05-6620.pdf

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De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Shuling S; Niu, Ziru Z; Wang, Hui H; Ma, Minyue M; Zhang, Wei W; Fang Wang, Shu S; Wang, Jun J; Yan, Hong H; Liu, Yifan Y; Duan, Na N; Zhang, Xiandong X; Yao, Yuanqing Y

Publication Date: 2017-06-26

Variant appearance in text: FBN1: 4786C>T

PubMed Link: 28650953

Variant Present in the following documents:

• Main text
• medscimonit-23-3136.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 4786C>T; Arg1596Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Cold Spring Harbor Molecular Case Studies

Zastrow, Diane B DB; Zornio, Patricia A PA; Dries, Annika A; Kohler, Jennefer J; Fernandez, Liliana L; Waggott, Daryl D; Walkiewicz, Magdalena M; Eng, Christine M CM; Manning, Melanie A MA; Farrelly, Ellyn E; , ; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT

Publication Date: 2017-01

Variant appearance in text: FBN1: 4786C>T; R1596X; rs113871094

PubMed Link: 28050602

Variant Present in the following documents:

• Main text
• supp_mcs.a001388_TableS1.xls, sheet 4
• ZastrowMCS001388.pdf
• supp_mcs.a001388_TableS1.xls, sheet 3

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