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: 8226+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Molecular Genetics & Genomic Medicine

Lin, Mao M; Liu, Zhenlei Z; Liu, Gang G; Zhao, Sen S; Li, Chao C; Chen, Weisheng W; Coban Akdemir, Zeynep Z; Lin, Jiachen J; Song, Xiaofei X; Wang, Shengru S; Xu, Qiming Q; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Liu, Sen S; Liu, Jiaqi J; Chen, Yixin Y; Zuo, Yuzhi Y; Yang, Xu X; Sun, Tianshu T; Yang, Xin-Zhuang XZ; Niu, Yuchen Y; Li, Xiaoxin X; You, Wesley W; Qiu, Bintao B; Ding, Chen C; Liu, Pengfei P; Zhang, Shuyang S; Carvalho, Claudia M B CMB; Posey, Jennifer E JE; Qiu, Guixing G; , ; Lupski, James R JR; Wu, Zhihong Z; Zhang, Jianguo J; Wu, Nan N

Publication Date: 2020-01

Variant appearance in text: FBN1: 8226+1G>A

PubMed Link: 31774634

Variant Present in the following documents:

• Main text
• MGG3-8-e1023.pdf

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Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Journal Of Medical Genetics

Miller, Kerry A KA; Twigg, Stephen R F SR; McGowan, Simon J SJ; Phipps, Julie M JM; Fenwick, Aimée L AL; Johnson, David D; Wall, Steven A SA; Noons, Peter P; Rees, Katie E M KE; Tidey, Elizabeth A EA; Craft, Judith J; Taylor, John J; Taylor, Jenny C JC; Goos, Jacqueline A C JA; Swagemakers, Sigrid M A SM; Mathijssen, Irene M J IM; van der Spek, Peter J PJ; Lord, Helen H; Lester, Tracy T; Abid, Noina N; Cilliers, Deirdre D; Hurst, Jane A JA; Morton, Jenny E V JE; Sweeney, Elizabeth E; Weber, Astrid A; Wilson, Louise C LC; Wilkie, Andrew O M AO

Publication Date: 2017-04

Variant appearance in text: FBN1: 8226+1G>A

PubMed Link: 27884935

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104215supp003.pdf
• jmedgenet-2016-104215.pdf

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Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

European Journal Of Human Genetics : Ejhg

Passarge, Eberhard E; Robinson, Peter N PN; Graul-Neumann, Luitgard M LM

Publication Date: 2016-08

Variant appearance in text: FBN1: 8226+1G>A

PubMed Link: 26860060

Variant Present in the following documents:

• Main text

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