Publications:

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: 4467T>A; N1489K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Journal Of The American Heart Association

Mariscalco, Giovanni G; Debiec, Radoslaw R; Elefteriades, John A JA; Samani, Nilesh J NJ; Murphy, Gavin J GJ

Publication Date: 2018-08-07

Variant appearance in text: FBN1: 4467T>A; Asn1489Lys

PubMed Link: 30371227

Variant Present in the following documents:

• JAH3-7-e009302-s001.pdf
• JAH3-7-e009302.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: 4467T>A; Asn1489Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Clinical Genetics

Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM

Publication Date: 2016-06

Variant appearance in text: FBN1: 4467T>A; N1489K

PubMed Link: 26621581

Variant Present in the following documents:

• Main text

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FBN1 mutations in patients with descending thoracic aortic dissections.

American Journal Of Medical Genetics. Part A

Brautbar, Ariel A; LeMaire, Scott A SA; Franco, Luis M LM; Coselli, Joseph S JS; Milewicz, Dianna M DM; Belmont, John W JW

Publication Date: 2010-02

Variant appearance in text: FBN1: 4467T>A; N1489K

PubMed Link: 20082464

Variant Present in the following documents:

• Main text

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