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Author Details

David H Ledbetter
University of Florida, College of Medicine-Jacksonville
1976
374
96
PMIDPaper TitleJournal TitlePublished Year
38091987Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.Am J Hum Genet2024
38091987Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.Am J Hum Genet2024
36609147Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.Genet Med2023
37087602Letter to the editor.Autism Res2023
36648468Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.JAMA2023
36877506Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.JAMA Pediatr2023
36475376Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.Am J Psychiatry2023
36609147Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.Genet Med2023
37087602Letter to the editor.Autism Res2023
36475376Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.Am J Psychiatry2023
36648468Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.JAMA2023
36877506Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.JAMA Pediatr2023
35236119Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.Am J Psychiatry2022
35236119Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.Am J Psychiatry2022
34906480Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.Genet Med2022
34906480Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.Genet Med2022
33434711Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.Curr Opin Genet Dev2021
34062946Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.J Pers Med2021
34007001Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genet Med2021
33576083Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.Am J Med Genet C Semin Med Genet2021
33528536Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.JAMA2021
33434711Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.Curr Opin Genet Dev2021
34646007Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genet Med2021
33576083Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.Am J Med Genet C Semin Med Genet2021
33528536Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.JAMA2021
34646007Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genet Med2021
34062946Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.J Pers Med2021
34007001Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genet Med2021
32345712Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention.Science2020
32359473Insufficient Evidence for "Autism-Specific" Genes.Am J Hum Genet2020
32345712Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention.Science2020
32601386Clinical outcomes of a genomic screening program for actionable genetic conditions.Genet Med2020
32544666Long overdue: including adults with brain disorders in precision health initiatives.Curr Opin Genet Dev2020
32597026Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.Autism Res2020
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
32697297Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.JAMA Psychiatry2020
33180868Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.PLoS One2020
32728138Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genet Med2020
33157005Response to Buxbaum et al.Am J Hum Genet2020
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
33157005Response to Buxbaum et al.Am J Hum Genet2020
33180868Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.PLoS One2020
32601386Clinical outcomes of a genomic screening program for actionable genetic conditions.Genet Med2020
32597026Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.Autism Res2020
32728138Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genet Med2020
32697297Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.JAMA Psychiatry2020
32359473Insufficient Evidence for "Autism-Specific" Genes.Am J Hum Genet2020
32544666Long overdue: including adults with brain disorders in precision health initiatives.Curr Opin Genet Dev2020
31548702A framework for the investigation of rare genetic disorders in neuropsychiatry.Nat Med2019
31653860Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.Nat Commun2019
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Collaborators

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William B Dobyns
University of Minnesota
Co-authored papers 36
Susan L Christian
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Co-authored papers 26
Robert L Nussbaum
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Co-authored papers 19
James S Sutcliffe
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Co-authored papers 18
Arthur L Beaudet
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David J Carey
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Co-authored papers 16
William A Faucett
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Co-authored papers 16
Michael F Murray
Yale School of Medicine
Co-authored papers 15
Joseph B Leader
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Laird G Jackson
The Children's Hospital of Philadelphia
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Marc S Williams
University of Washington Medical Center
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Edwin H Cook
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Frederick E Dewey
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Regeneron Pharmaceuticals, Inc.
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Marylyn D Ritchie
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Christopher A Walsh
Broad Institute of MIT and Harvard
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Stephan J Sanders
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John D Overton
Regeneron Pharmaceuticals
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Helena Kirchner
Baylor College of Medicine
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Aris Baras
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Colm O'Dushlaine
Co-authored papers 8
Alexander Lopez
Co-authored papers 8
Matthew W State
UCSF Weill Institute for Neurosciences, University of California san francisco
Co-authored papers 8
John Penn
Co-authored papers 8
Lukas Habegger
Co-authored papers 8
Alan R Shuldiner
University of Maryland School of Medicine
Co-authored papers 8
Catherine Lord
University of California los angeles
Co-authored papers 8
Release 1.2