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Journal of Genetic Counseling|November 5, 2020
Professional regulation for Australasian genetic counselorsCass Hoskins, Clara Gaff, Alison McEwen, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES dataZornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2024
Gene selection for genomic newborn screening: Moving toward consensus?Lilian Downie, Sophie E Bouffler, David J Amor, et al.
The Medical Journal of Australia|September 18, 2015
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicineDominica Zentner, Tina N Thompson, Paul A James, et al.
Journal of Cardiovascular Electrophysiology|February 4, 2016
Diffuse Ventricular Fibrosis on Cardiac Magnetic Resonance Imaging Associates With Ventricular Tachycardia in Patients With Hypertrophic CardiomyopathyAlex J A McLELLAN, Andris H Ellims, Sandeep Prabhu, et al.
Journal of the American Heart Association|January 15, 2020
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated CardiomyopathyJay Ramchand, Mathew Wallis, Ivan Macciocca, et al.
NPJ Genomic Medicine|October 11, 2023
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac deathEmma S Singer, Joshua Crowe, Mira Holliday, et al.
European Heart Journal. Cardiovascular Imaging|May 14, 2014
A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotypeAndris H Ellims, Leah M Iles, Liang-han Ling, et al.
Genome Medicine|July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settingsSimon P Sadedin, Harriet Dashnow, Paul A James, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasibleMartin B Delatycki, Michelle Wolthuizen, Veronica Collins, et al.
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