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: 7C>T; Arg3Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

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Publication Date: 2020-09

Variant appearance in text: FBN1: 7C>T; Arg3*

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FBN1: 7C>T; Arg3Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: FBN1: 7C>T; R3*

PubMed Link: 28152038

Variant Present in the following documents:

• Main text
• pone.0170843.pdf
• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: FBN1: R3*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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