Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy-Reference-Cited by-同舟云学术

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy

Published:2019-02-14 Issue:4 Volume:179 Page:608-614
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Aljeaid Deema¹²^ORCID,Sanchez Ana Isabel¹³^ORCID,Wakefield Emily¹⁴,Chadwell Sarah E.¹⁴,Moore Nicole⁵,Prada Carlos E.¹⁴⁶⁷,Zhang Wenying¹⁵⁶⁸

Affiliation:

1. Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

2. Department of Genetics Medicine, Faculty of Medicine; King Abdulaziz University; Jeddah Saudi Arabia

3. Instituto de Genética Humana; Pontificia Universidad Javeriana; Bogotá Colombia

4. RASopathies Program; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

5. Heart Institute Diagnostic Laboratory; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

6. Department of Pediatrics; University of Cincinnati College of Medicine; Cincinnati Ohio

7. Division de Genetica, Departamento de Pediatría; Hospital Internacional de Colombia; Bucaramanga Colombia

8. Laboratory of Genetics and Genomics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61072/fullpdf

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5. A comparison of whole genome sequencing to multigene panel testing in hypertrophic cardiomyopathy PatientsCLINICAL PERSPECTIVE;Cirino;Circulation: Genomic and Precision Medicine,2017

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