ArticleProceedings of the National Academy of Sciences of the United States of America2016
Early somatic mosaicism is a rare cause of long-QT syndrome.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 49 citations in OpenAlex.
- The Hodgkin-Huxley-Katz Prize Lecture: Heart digital twins: A new paradigm in arrhythmia medicine.The Journal of physiology · 2026Article
- Clinical relevance of mosaic variants detected by exome sequencing.The Journal of allergy and clinical immunology · 2026Article
- Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells.Circulation research · 2026Review
- Gene Editing Applications as Future Cardiovascular Therapies.Annual review of genetics · 2025Review
- Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.JACC. Clinical electrophysiology · 2025Article
- Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.Frontiers in cardiovascular medicine · 2025Article
- Computational Medicine: What Electrophysiologists Should Know to Stay Ahead of the Curve.Current cardiology reports · 2024Review
- Computational modeling of cardiac electrophysiology and arrhythmogenesis: toward clinical translation.Physiological reviews · 2024Review
- Acute Glycogen Synthase Kinase-3 Inhibition Modulates Human Cardiac Conduction.JACC. Basic to translational science · 2022Article
- Somatic Mutations in Cardiovascular Disease.Circulation research · 2022Review
- Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.Biomedicines · 2022Review
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Accurate genomic variant detection in single cells with primary template-directed amplification.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Maternal mosaicism in long QT syndrome due to a pathogenic variant inHeartRhythm case reports · 2021Article
- Sex Differences in Drug-Induced Arrhythmogenesis.Frontiers in physiology · 2021Article
- The Dynamics of Somatic Mutagenesis During Life in Humans.Frontiers in aging · 2021Review
- Classifying Drugs by their Arrhythmogenic Risk Using Machine Learning.Biophysical journal · 2020Article
- Predicting critical drug concentrations and torsadogenic risk using a multiscale exposure-response simulator.Progress in biophysics and molecular biology · 2019Article
- A comprehensive, multiscale framework for evaluation of arrhythmias arising from cell therapy in the whole post-myocardial infarcted heart.Scientific reports · 2019Article
- Machine learning in drug development: Characterizing the effect of 30 drugs on the QT interval using Gaussian process regression, sensitivity analysis, and uncertainty quantification.Computer methods in applied mechanics and engineering · 2019Article
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Authors and funding
29 authors at 6 institutions in 1 country.
James Rush PriestStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA 94305.
Charles GawadChild Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Hematology-Oncology, Stanford University School of Medicine, Stanford, CA 94305.
Kristopher M KahligDepartment of Biology, Cardiovascular Therapeutic Area, Gilead Sciences, Fremont, CA 94555.
Joseph K YuDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218; Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21218.
Thomas O'HaraDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218.
Patrick M BoyleDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218; Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21218.ORCID 0000-0001-9048-1239
Sridharan RajamaniDepartment of Biology, Cardiovascular Therapeutic Area, Gilead Sciences, Fremont, CA 94555.
Michael J ClarkPersonalis, Inc., Menlo Park, CA 94025.
Sarah T K GarciaPersonalis, Inc., Menlo Park, CA 94025.
Scott CeresnakStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA 94305.
Jason HarrisPersonalis, Inc., Menlo Park, CA 94025.
Sean BoylePersonalis, Inc., Menlo Park, CA 94025.
Frederick E DeweyStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305.
Lindsey Malloy-WaltonStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA 94305.
Kyla DunnStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Lucile Packard Children's Hospital Heart Center, Palo Alto, CA 94304.
Megan GroveStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305.
Marco V PerezStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305.ORCID 0000-0003-2746-0202
Norma F NeffDepartment of Bioengineering, Stanford University School of Medicine, Stanford, CA 94305.
Richard ChenPersonalis, Inc., Menlo Park, CA 94025.
Katsuhide MaedaStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA 94305.
Anne DubinStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, CA 94305.
Luiz BelardinelliDepartment of Biology, Cardiovascular Therapeutic Area, Gilead Sciences, Fremont, CA 94555.
John WestPersonalis, Inc., Menlo Park, CA 94025.
Christian AntolikCardiogenetic Testing Services, GeneDx, Gaithersburg, MD 20877.
Daniela MacayaCardiogenetic Testing Services, GeneDx, Gaithersburg, MD 20877.
Thomas QuertermousStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305.
Natalia A TrayanovaDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218; Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21218.
Stephen R QuakeDepartment of Bioengineering, Stanford University School of Medicine, Stanford, CA 94305; Department of Applied Physics, Stanford University, Stanford, CA 94305; Howard Hughes Medical Research Institute, Stanford University School of Medicine, Stanford, CA 94305 euan@stanford.edu quake@stanford.edu.
Euan A AshleyStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA 94305; Child Health Research Institute, Stanford University School of Medicine, Stanford, CA 94305; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305; euan@stanford.edu quake@stanford.edu.
Stanford University · USPersonalis (United States) · USJohns Hopkins University · USGilead Sciences (United States) · USHoward Hughes Medical Institute · USLucile Packard Children's Hospital · US
Funding
Pediatric Scientist Development Program (PSDP) [K12]K12HD000850 · NICHD · YALE UNIVERSITY · PI Sallie R. Permar · 1987 to 2026
$44.1MStanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0MMechanism of the Coronary Heart Disease Association at Chromosome 6q23.2R01HL109512 · NHLBI · STANFORD UNIVERSITY · PI QUERTERMOUS, THOMAS · 2011 to 2019
$6.1MTraining in Myocardial Biology at Stanford (TIMBS)T32HL094274 · NHLBI · STANFORD UNIVERSITY · PI Euan A Ashley, Daniel Bernstein · 2010 to 2026
$5.0MVirtual Electrophysiology LaboratoryDP1HL123271 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI TRAYANOVA, NATALIA A. · 2013 to 2017
$4.0MExploration of Arrhythmogenic Triggers and Substrates in Heart FailureR01HL126802 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI EFIMOV, IGOR R, GORELIK, JULIA · 2016 to 2019
$2.8MNanoscale approaches to allelic silencing in myocardial disease statesDP2OD006511 · OD · STANFORD UNIVERSITY · PI ASHLEY, EUAN A · 2009 to 2009
$2.4MResynchronizing the Failing Heart: Insights from a Multiscale Cardiac ModelR01HL103428 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI TRAYANOVA, NATALIA A. · 2011 to 2014
$2.3MGenetic Mechanisms of Congenital Heart DiseaseR00HL130523 · NHLBI · STANFORD UNIVERSITY · PI PRIEST, JAMES R. · 2017 to 2019
$747kGenetic Mechanisms of Congenital Heart DiseaseK99HL130523 · NHLBI · STANFORD UNIVERSITY · PI PRIEST, JAMES R. · 2016 to 2017
$306kNHGRI NIH HHS U01 HG007708NHLBI NIH HHS DP1 HL123271NHLBI NIH HHS K99 HL130523NHLBI NIH HHS R00 HL130523NHLBI NIH HHS R01 HL103428NHLBI NIH HHS R01 HL109512NHLBI NIH HHS R01 HL126802NHLBI NIH HHS T32 HL094274NICHD NIH HHS K12 HD000850NIH HHS DP2 OD006511
Abstract
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium channel Na
Indexed as
Genetic Predisposition to DiseaseMosaicismAction PotentialsArrhythmias, CardiacBase SequenceCardiomyopathy, DilatedComputer SimulationDiffusionElectrocardiographyGene FrequencyGenes, DominantGenetic LociGenotyping TechniquesHeart Conduction SystemHigh-Throughput Nucleotide SequencingHumansNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanarrhythmiacomputational modelinggenomicsmosaicismsingle cell
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.