Publications:

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine

van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J

Publication Date: 2021-09-16

Variant appearance in text: FBN1: 7412C>G; P2471R

PubMed Link: 34531397

Variant Present in the following documents:

• 41525_2021_238_MOESM1_ESM.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 7412C>G; Pro2471Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

Human Genetics

van de Luijtgaarden, Koen M KM; Heijsman, Daphne D; Maugeri, Alessandra A; Weiss, Marjan M MM; Verhagen, Hence J M HJ; IJpma, Arne A; Brüggenwirth, Hennie T HT; Majoor-Krakauer, Danielle D

Publication Date: 2015-08

Variant appearance in text: FBN1: 7412C>G; Pro2471Arg; rs193922233

PubMed Link: 26017485

Variant Present in the following documents:

• Main text

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Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Orphanet Journal Of Rare Diseases

Campens, Laurence L; Callewaert, Bert B; Muiño Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J

Publication Date: 2015-02-03

Variant appearance in text: FBN1: 7412C>G; Pro2471Arg

PubMed Link: 25644172

Variant Present in the following documents:

• Main text
• 13023_2014_Article_221.pdf

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