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: 3373C>T; Arg1125Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

American Journal Of Translational Research

Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R

Publication Date: 2021

Variant appearance in text: FBN1: 3373C>T; Arg1125Ter

PubMed Link: 34150014

Variant Present in the following documents:

• Main text

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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Plos One

Gentilini, Davide D; Oliveri, Antonino A; Fazia, Teresa T; Pini, Alessandro A; Marelli, Susan S; Bernardinelli, Luisa L; Di Blasio, Anna Maria AM

Publication Date: 2019

Variant appearance in text: FBN1: R1125X

PubMed Link: 31536524

Variant Present in the following documents:

• pone.0222506.s004.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: 3373C>T; Arg1125Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Soluble EMMPRIN levels discriminate aortic ectasia in Marfan syndrome patients.

Theranostics

Rurali, Erica E; Perrucci, Gianluca L GL; Gaetano, Raffaella R; Pini, Alessandro A; Moschetta, Donato D; Gentilini, Davide D; Nigro, Patrizia P; Pompilio, Giulio G

Publication Date: 2019

Variant appearance in text: FBN1: 3373C>T

PubMed Link: 31149040

Variant Present in the following documents:

• thnov09p2224s1.pdf

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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Human Mutation

Overwater, Eline E; Marsili, Luisa L; Baars, Marieke J H MJH; Baas, Annette F AF; van de Beek, Irma I; Dulfer, Eelco E; van Hagen, Johanna M JM; Hilhorst-Hofstee, Yvonne Y; Kempers, Marlies M; Krapels, Ingrid P IP; Menke, Leonie A LA; Verhagen, Judith M A JMA; Yeung, Kak K KK; Zwijnenburg, Petra J G PJG; Groenink, Maarten M; van Rijn, Peter P; Weiss, Marjan M MM; Voorhoeve, Els E; van Tintelen, J Peter JP; Houweling, Arjan C AC; Maugeri, Alessandra A

Publication Date: 2018-09

Variant appearance in text: FBN1: 3373C>T; Arg1125*

PubMed Link: 29907982

Variant Present in the following documents:

• Main text
• HUMU-39-1173.pdf

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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European Journal Of Human Genetics : Ejhg

Faivre, L L; Collod-Beroud, G G; Callewaert, B B; Child, A A; Binquet, C C; Gautier, E E; Loeys, B L BL; Arbustini, E E; Mayer, K K; Arslan-Kirchner, M M; Stheneur, C C; Kiotsekoglou, A A; Comeglio, P P; Marziliano, N N; Wolf, J E JE; Bouchot, O O; Khau-Van-Kien, P P; Beroud, C C; Claustres, M M; Bonithon-Kopp, C C; Robinson, P N PN; Adès, L L; De Backer, J J; Coucke, P P; Francke, U U; De Paepe, A A; Jondeau, G G; Boileau, C C

Publication Date: 2009-04

Variant appearance in text: FBN1: 3373C>T; Arg1125X

PubMed Link: 19002209

Variant Present in the following documents:

• Main text

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