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Author Details

Whitley V Kelley
HudsonAlpha Institute for Biotechnology
2017
23
9
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
37212252Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.Genet Med2023
37340305Medical and psychosocial outcomes of state-funded population genomic screening.Clin Genet2023
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
37161864Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genet Med2023
37092538De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.Genet Med2023
36856778Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?Fam Pract2023
34930662Genome sequencing as a first-line diagnostic test for hospitalized infants.Genet Med2022
35330405Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting.J Pers Med2022
32989269Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.Genet Med2021
33843487The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.AJOB Empir Bioeth2021
34313030A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Mol Genet Genomic Med2021
31312044Return of raw data in genomic testing and research: ownership, partnership, and risk-benefit.Genet Med2020
32220047Recruiting diversity where it exists: The Alabama Genomic Health Initiative.J Genet Couns2020
30670880Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
30964585Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.J Genet Couns2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
29652076Systematic reanalysis of genomic data improves quality of variant interpretation.Clin Genet2018
30107533SYT1-associated neurodevelopmental disorder: a case series.Brain2018
29790872Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genet Med2018
27561086Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.Genet Med2017
28554332Genomic diagnosis for children with intellectual disability and/or developmental delay.Genome Med2017
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Collaborators

Kelly M East
HudsonAlpha Institute for Biotechnology
Co-authored papers 17
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 12
Gregory S Barsh
HudsonAlpha Institute for Biotechnology, Stanford University
Co-authored papers 11
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Co-authored papers 11
Susan M Hiatt
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Co-authored papers 9
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Norton Children's Research Institute Affiliated with the University of Louisville
Co-authored papers 9
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University of Alabama at Birmingham
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Co-authored papers 6
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Norton Children's Research Institute, University of Louisville School of Medicine
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Co-authored papers 5
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The University of Alabama at Birmingham School of Medicine
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Brigham and Women's Hospital
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Marco Tartaglia
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Eimear E Kenny
Icahn School of Medicine at Mount Sinai, NY Institute for Genomic Health
Co-authored papers 2
Carrie L Blout
Department of Medicine Brigham and Women's Hospital and Harvard Medical School
Co-authored papers 2
Benjamin S Wilfond
University of Washington School of Medicine.
Co-authored papers 2
Tia L Kauffman
Kaiser Permanente Center for Health Research
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Barbara B Biesecker
and Translational Research Center
Co-authored papers 2
Jeffrey Ou
University of Washington Medical Center
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Robert C Green
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
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Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
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Jennifer J Johnston
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