A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients-Reference-Cited by-同舟云学术

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Published:2017-10 Issue:5 Volume:10 Page:
ISSN:1942-325X
Container-title:Circulation: Cardiovascular Genetics
language:en
Short-container-title:Circ Cardiovasc Genet

Author:

Cirino Allison L.¹,Lakdawala Neal K.¹,McDonough Barbara¹,Conner Lauren¹,Adler Dale¹,Weinfeld Mark¹,O’Gara Patrick¹,Rehm Heidi L.¹,Machini Kalotina¹,Lebo Matthew¹,Blout Carrie¹,Green Robert C.¹,MacRae Calum A.¹,Seidman Christine E.¹,Ho Carolyn Y.¹

Affiliation:

1. From the Cardiovascular Division (A.L.C., N.K.L., B.M., D.A., M.W., P.O., C.A.M., C.E.S., C.Y.H.), Department of Pathology (H.L.R.), and Division of Genetics (C.B., R.C.G., C.A.M.), Brigham and Women’s Hospital, Boston, MA; Harvard Medical School, Boston, MA (N.K.L., B.M., D.A., M.W., P.O., H.L.R., R.C.G., C.A.M., C.E.S., C.Y.H.); Albany Medical College, NY (L.C.); Broad Institute of Harvard and MIT, Cambridge, MA (H.L.R., R.C.G., C.A.M.); Laboratory for Molecular Medicine (H.L.R., K.M., M.L.),...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Cardiology and Cardiovascular Medicine,Genetics

Reference49 articles.

1. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

2. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

3. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

4. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

5. Nonfamilial Hypertrophic Cardiomyopathy

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