FBN1 Coding Variants and Nonsyndromic Aortic Disease-Reference-Cited by-同舟云学术

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FBN1 Coding Variants and Nonsyndromic Aortic Disease

Published:2019-06 Issue:6 Volume:12 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Damrauer Scott M.¹²,Hardie Kara³,Kember Rachel L.⁴,Judy Renae¹,Birtwell David⁵,Williams Heather⁵,Rader Daniel J.³⁴,Pyeritz Reed E.³

Affiliation:

1. Departments of Surgery (S.M.D., R.J.)

2. Corporal Michael Crescenz VA Medical Center, Philadelphia, PA (S.M.D.).

3. Medicine (K.H., D.J.R., R.E.P.)

4. Genetics (R.L.K., D.J.R.)

5. Bioinformatics, Epidemiology, and Informatics (D.B., H.W.), Perelman School of Medicine, University of Pennsylvania.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference4 articles.

1. Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases

2. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

3. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome

4. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A genotype-first approach identifies high incidence ofNF1pathogenic variants with distinct disease associations;2023-08-10

2. Insights into the genetic architecture of congenital heart disease from animal modeling;Zoological Research;2023

3. The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population;Journal of Personalized Medicine;2022-11-29

4. Aortopathies and arteriopathies;Textbook of Arterial Stiffness and Pulsatile Hemodynamics in Health and Disease;2022

5. Uncertainty in Genomics Impacts Precision Medicine;Trends in Genetics;2021-08

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