Publications:

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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: 1585C>T; Arg529Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

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

Meester, Josephina A N JAN; Peeters, Silke S; Van Den Heuvel, Lotte L; Vandeweyer, Geert G; Fransen, Erik E; Cappella, Elizabeth E; Dietz, Harry C HC; Forbus, Geoffrey G; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Hoskoppal, Arvind A; Landstrom, Andrew P AP; Lee, Teresa T; Mital, Seema S; Morris, Shaine S; Olson, Aaron K AK; Renard, Marjolijn M; Roden, Dan M DM; Singh, Michael N MN; Selamet Tierney, Elif Seda ES; Tretter, Justin T JT; Van Driest, Sara L SL; Willing, Marcia M; Verstraeten, Aline A; Van Laer, Lut L; Lacro, Ronald V RV; Loeys, Bart L BL

Publication Date: 2022-05

Variant appearance in text: FBN1: 1585C>T; Arg529*

PubMed Link: 35058154

Variant Present in the following documents:

• NIHMS1850106-supplement-Supplemental_Table_1a.xlsx, sheet 1

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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: 1585C>T; Arg529*; rs137854476

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 1585C>T; Arg529Ter

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 1585C>T; Arg529Ter

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

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A Systematic Review of Extreme Phenotype Strategies to Search for Rare Variants in Genetic Studies of Complex Disorders.

Genes

Amanat, Sana S; Requena, Teresa T; Lopez-Escamez, Jose Antonio JA

Publication Date: 2020-08-25

Variant appearance in text: FBN1: 1585C>T

PubMed Link: 32854191

Variant Present in the following documents:

• Main text
• genes-11-00987.pdf

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Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

Molecular Genetics & Genomic Medicine

Vanem, Thy Thy TT; Geiran, Odd Ragnar OR; Krohg-Sørensen, Kirsten K; Røe, Cecilie C; Paus, Benedicte B; Rand-Hendriksen, Svend S

Publication Date: 2018-11

Variant appearance in text: FBN1: 1585C>T; Arg529X

PubMed Link: 30393980

Variant Present in the following documents:

• MGG3-6-1114-s001.pdf

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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology

Singh, Mahavir M; Tyagi, Suresh C SC

Publication Date: 2018

Variant appearance in text: FBN1: Arg529X; rs137854476

PubMed Link: 29376001

Variant Present in the following documents:

• Main text

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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: 1585C>T; Arg529Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: FBN1: 1585C>T; Arg529Ter

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

Molecular Medicine Reports

Ma, Mingjia M; Li, Zongzhe Z; Wang, Dao Wen DW; Wei, Xiang X

Publication Date: 2016-07

Variant appearance in text: FBN1: 1585C>T; Arg529X; rs137854476

PubMed Link: 27175573

Variant Present in the following documents:

• Main text
• mmr-14-01-0151.pdf

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Bmc Medical Genomics

Wooderchak-Donahue, Whitney L WL; O'Fallon, Brendan B; Furtado, Larissa V LV; Durtschi, Jacob D JD; Plant, Parker P; Ridge, Perry G PG; Rope, Alan F AF; Yetman, Angela T AT; Bayrak-Toydemir, Pinar P

Publication Date: 2012-11-14

Variant appearance in text: FBN1: 1585C>T; R529X

PubMed Link: 23148498

Variant Present in the following documents:

• Main text
• 1755-8794-5-50.pdf

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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics

Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U

Publication Date: 2002-08

Variant appearance in text: FBN1: R529X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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