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: 6695G>A; Cys2232Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 6695G>A; Cys2232Tyr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.

Frontiers In Molecular Biosciences

Chen, Songchang S; Fei, Hongjun H; Zhang, Junyun J; Chen, Yiyao Y; Huang, Hefeng H; Lu, Daru D; Xu, Chenming C

Publication Date: 2021

Variant appearance in text: FBN1: Cys2232Tyr

PubMed Link: 34957211

Variant Present in the following documents:

• Main text
• fmolb-08-749842.pdf

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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: Cys2232Tyr

PubMed Link: 33648514

Variant Present in the following documents:

• Main text
• 12920_2021_Article_902.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 6695G>A; C2232Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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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: C2232Y; rs1060501054

PubMed Link: 31211624

Variant Present in the following documents:

• Main text

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