Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
39033325 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Genome Sequencing in the Parkinson Disease Clinic.
Hill EJ et al.
Neurology. Genetics, 2022
Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.
Vähätalo JH et al.
Frontiers in Cardiovascular Medicine, 2021
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Hermida A et al.
European Journal of Heart Failure, 2019
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Haggerty CM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor G et al.
Circulation. Cardiovascular Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S13
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
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