Publications:

Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.

Bmc Medical Genomics

Beil, Adelyn A; Hornsby, Whitney W; Uhlmann, Wendy R WR; Aatre, Rajani R; Arscott, Patricia P; Wolford, Brooke B; Eagle, Kim A KA; Yang, Bo B; McNamara, Jennifer J; Willer, Cristen C; Roberts, J Scott JS

Publication Date: 2021-03-01

Variant appearance in text: FBN1: Cys1431Arg

PubMed Link: 33648514

Variant Present in the following documents:

• Main text
• 12920_2021_Article_902.pdf

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Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

Circulation. Genomic And Precision Medicine

Wolford, Brooke N BN; Hornsby, Whitney E WE; Guo, Dongchuan D; Zhou, Wei W; Lin, Maoxuan M; Farhat, Linda L; McNamara, Jennifer J; Driscoll, Anisa A; Wu, Xiaoting X; Schmidt, Ellen M EM; Norton, Elizabeth L EL; Mathis, Michael R MR; Ganesh, Santhi K SK; Douville, Nicholas J NJ; Brummett, Chad M CM; Kitzman, Jacob J; Chen, Y Eugene YE; Kim, Karen K; Deeb, G Michael GM; Patel, Himanshu H; Eagle, Kim A KA; Milewicz, Dianna M DM; J Willer, Cristen C; Yang, Bo B

Publication Date: 2019-06

Variant appearance in text: FBN1: C1431R

PubMed Link: 31211624

Variant Present in the following documents:

• Main text

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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: 4291T>C; Cys1431Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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