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Publications by John R. Giudicessi
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance
Circulation. Genomic and precision medicine
Genetics
Cardiovascular Medicine
Cardiology
A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome
Mayo Clinic Proceedings
Medicine
Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-Qt Syndrome
Circulation: Cardiovascular Genetics
Enhanced Classification of Brugada Syndrome–Associated and Long-Qt Syndrome–Associated Genetic Variants in theSCN5A-Encoded Nav1.5 Cardiac Sodium ChannelCLINICAL PERSPECTIVE
Circulation: Cardiovascular Genetics
Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C, Linked to Autosomal Dominant Long QT Syndrome
Circulation: Cardiovascular Genetics
Related publications
Use of Anthrax Vaccine in the United States: Recommendations of the Advisory Committee on Immunization Practices, 2019
MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control
Health Information Management
Mutagenesis
Epidemiology
Health
Medicine
Toxicology
Preexposure Prophylaxis for Prevention of HIV Acquisition Among Adolescents: Clinical Considerations, 2020
MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control
Health Information Management
Mutagenesis
Epidemiology
Health
Medicine
Toxicology
Sequencing Studies in Human Genetics: Design and Interpretation
Nature Reviews Genetics
Genetics
Molecular Biology
Evolution of Genetic and Genomic Features Unique to the Human Lineage
Nature Reviews Genetics
Genetics
Molecular Biology
Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
Nature Reviews Genetics
Genetics
Molecular Biology
ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
Nature Reviews Genetics
Genetics
Molecular Biology
Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
Nature Reviews Genetics
Genetics
Molecular Biology
Putting Gene Essentiality Into Context
Nature Reviews Genetics
Genetics
Molecular Biology
Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
Nature Reviews Genetics
Genetics
Molecular Biology
Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
Nature Reviews Genetics
Genetics
Molecular Biology
