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Author Details

Kevin M Bowling
Washington University School of Medicine
2006
38
22
PMIDPaper TitleJournal TitlePublished Year
36711854Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv2023
37511639Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.J Pers Med2023
37161864Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genet Med2023
34930662Genome sequencing as a first-line diagnostic test for hospitalized infants.Genet Med2022
36414972Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.Genome Med2022
32989269Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.Genet Med2021
33522091Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.Am J Med Genet A2021
33843487The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.AJOB Empir Bioeth2021
33937879Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.HGG Adv2021
32802946<i>Fibulin-5</i> mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.Neurol Genet2020
33108757Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.Am J Hum Genet2020
30670880Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
31693580Clinical utility of genomic sequencing.Curr Opin Pediatr2019
30739909Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.Genet Med2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
29144510Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.Genet Med2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
30559313Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.Cold Spring Harb Mol Case Stud2018
29790872Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genet Med2018
29740699De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Hum Genet2018
29652076Systematic reanalysis of genomic data improves quality of variant interpretation.Clin Genet2018
27561086Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.Genet Med2017
28754123Post-mortem molecular profiling of three psychiatric disorders.Genome Med2017
28554332Genomic diagnosis for children with intellectual disability and/or developmental delay.Genome Med2017
28017373Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.Am J Hum Genet2017
27811861A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genet Med2017
27181684Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
26595808Whole-Exome Sequencing in Familial Parkinson Disease.JAMA Neurol2016
27830187Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy.Neurol Genet2016
27392080Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
27392081Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
27181682Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
24929677Recurrent read-through fusion transcripts in breast cancer.Breast Cancer Res Treat2014
23325432Dynamic DNA methylation across diverse human cell lines and tissues.Genome Res2013
21852959Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.PLoS Genet2011
18801743Direct binding of GTP cyclohydrolase and tyrosine hydroxylase: regulatory interactions between key enzymes in dopamine biosynthesis.J Biol Chem2008
17344383Interaction of genetic and environmental factors in a Drosophila parkinsonism model.J Neurosci2007
16966327A typical N-terminal extensions confer novel regulatory properties on GTP cyclohydrolase isoforms in Drosophila melanogaster.J Biol Chem2006
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Collaborators

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Co-authored papers 12
University of Alabama at Birmingham
Co-authored papers 12
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Co-authored papers 12
Norton Children's Research Institute Affiliated with the University of Louisville
Co-authored papers 12
The Broad Institute of MIT and Harvard
Co-authored papers 10
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 9
Illumina Inc.
Co-authored papers 9
HudsonAlpha Institute for Biotechnology, Stanford University
Co-authored papers 9
University of Washington Medical Center
Co-authored papers 9
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University of California San Francisco
Co-authored papers 7
Baylor College of Medicine
Co-authored papers 7
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
University of North Carolina
Co-authored papers 7
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 7
University of Washington Medical Center
Co-authored papers 7
Children's Hospital of Philadelphia
Co-authored papers 6
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 6
Oregon Health & Science University (OHSU)
Co-authored papers 6
Brigham and Women's Hospital, USA Harvard Medical School
Co-authored papers 6
Norton Children's Research Institute, University of Louisville School of Medicine
Co-authored papers 6
The University of Alabama at Birmingham School of Medicine
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Children's Hospital of Philadelphia, University of Pennsylvania
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Boston Children's Hospital, Harvard Medical School
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Baylor College of Medicine
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