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Author Details

Sarah E Topol
The Scripps Research Translational Institute, The Scripps Research Institute
2003
15
11
PMIDPaper TitleJournal TitlePublished Year
35737950Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain2022
34508652Emergence of an early SARS-CoV-2 epidemic in the United States.Cell2021
31847883Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.Genome Med2019
29393933Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?Front Cardiovasc Med2018
30452684Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.Hum Mol Genet2018
29181379Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?Front Cardiovasc Med2017
28383544Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.Genet Med2017
29749824Patient perspectives on whole-genome sequencing for undiagnosed diseases.Per Med2017
27114037Whole-Genome Sequencing of a Healthy Aging Cohort.Cell2016
25790160A genome sequencing program for novel undiagnosed diseases.Genet Med2015
24406475Fluid phase biopsy for detection and characterization of circulating endothelial cells in myocardial infarction.Phys Biol2014
24700542Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.Ann Neurol2014
24384108Comparison of 24-hour Holter monitoring with 14-day novel adhesive patch electrocardiographic monitoring.Am J Med2014
22440735Characterization of circulating endothelial cells in acute myocardial infarction.Sci Transl Med2012
14645853Mutation of MEF2A in an inherited disorder with features of coronary artery disease.Science2003
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Collaborators

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The Barcelona Institute of Science and Technology
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University of California San Diego
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1] The Scripps Translational Science Institute
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University of California
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University of Tubingen
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University of Colorado Anschutz Medical Campus
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Fred Hutchinson Cancer Center
Co-authored papers 2
Yale School of Public Health
Co-authored papers 1
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Scripps Whittier Diabetes Institute
Co-authored papers 1
Scripps Whittier Diabetes Institute
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Scripps Clinic
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University of California San Diego
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Scripps Clinic Torrey Pines
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University of Washington School of Medicine
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