Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FBN1: E2019K; rs377149130

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: 6055G>A; Glu2019Lys

PubMed Link: 26017485

Variant Present in the following documents:

• Main text
• 439_2015_Article_1567.pdf

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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Bmc Genetics

Yang, Ren-Qiang RQ; Jabbari, Javad J; Cheng, Xiao-Shu XS; Jabbari, Reza R; Nielsen, Jonas B JB; Risgaard, Bjarke B; Chen, Xu X; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper Hastrup JH; Olesen, Morten S MS; Tfelt-Hansen, Jacob J

Publication Date: 2014-06-18

Variant appearance in text: FBN1: 6055G>A; E2019K; rs377149130

PubMed Link: 24941995

Variant Present in the following documents:

• Main text
• 1471-2156-15-74.pdf

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Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Human Molecular Genetics

Buchan, Jillian G JG; Alvarado, David M DM; Haller, Gabe E GE; Cruchaga, Carlos C; Harms, Matthew B MB; Zhang, Tianxiao T; Willing, Marcia C MC; Grange, Dorothy K DK; Braverman, Alan C AC; Miller, Nancy H NH; Morcuende, Jose A JA; Tang, Nelson Leung-Sang NL; Lam, Tsz-Ping TP; Ng, Bobby Kin-Wah BK; Cheng, Jack Chun-Yiu JC; Dobbs, Matthew B MB; Gurnett, Christina A CA

Publication Date: 2014-10-01

Variant appearance in text: FBN1: E2019K

PubMed Link: 24833718

Variant Present in the following documents:

• Main text

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