Last Posted: Jan 31, 2019
- Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles Jodie et al. Circulation. Genomic and precision medicine 2019 Jan - Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh Roddy et al. Genome medicine 2019 Jan 11(1) 5 - Targeted next-generation sequencing in Slovak cardiomyopathy patients.
Nagyova E et al. Bratislavske lekarske listy 2019 120(1) 46-51 - Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
Peters Stacey et al. Heart, lung & circulation 2019 Jan 28(1) 31-38 - Life-threatening arrhythmic presentation in patients with arrhythmogenic cardiomyopathy before and after entering the genomic era; a two-decade experience from a large volume center.
Rootwelt-Norberg Christine et al. International journal of cardiology 2018 Dec - [Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].
Bouman Arjan et al. Nederlands tijdschrift voor geneeskunde 2018 162 - Cost Efficacy of ?-Galactosidase A Enzyme Screening for Fabry Disease.
Newman Darrell B et al. Mayo Clinic proceedings 2019 Jan 94(1) 84-88 - Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.
Anderson Kailyn et al. Congenital heart disease 2018 Dec - Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson Kate L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - FDA takes new action to advance the development of reliable and beneficial genetic tests that can improve patient care
FDA Press Release, December 4, 2018
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