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Author Details

David Bick
Genomics England Ltd.
1987
104
37
PMIDPaper TitleJournal TitlePublished Year
36597794Elective genomic testing: Practice resource of the National Society of Genetic Counselors.J Genet Couns2023
37403863Genomic newborn screening: Are we entering a new era of screening?J Inherit Metab Dis2023
36597794Elective genomic testing: Practice resource of the National Society of Genetic Counselors.J Genet Couns2023
37403863Genomic newborn screening: Are we entering a new era of screening?J Inherit Metab Dis2023
36195708Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.Eur J Hum Genet2022
35711926Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.Front Genet2022
35395838Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ Genom Med2022
35892470Newborn Screening by Genomic Sequencing: Opportunities and Challenges.Int J Neonatal Screen2022
36195708Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.Eur J Hum Genet2022
35395838Best practices for the interpretation and reporting of clinical whole genome sequencing.NPJ Genom Med2022
35711926Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.Front Genet2022
35892470Newborn Screening by Genomic Sequencing: Opportunities and Challenges.Int J Neonatal Screen2022
33350578An online compendium of treatable genetic disorders.Am J Med Genet C Semin Med Genet2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
33767343Reducing Sanger confirmation testing through false positive prediction algorithms.Genet Med2021
33927380Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34313030A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Mol Genet Genomic Med2021
33350578An online compendium of treatable genetic disorders.Am J Med Genet C Semin Med Genet2021
34790866<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.Neurol Genet2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
33767343Reducing Sanger confirmation testing through false positive prediction algorithms.Genet Med2021
33927380Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34790866<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.Neurol Genet2021
34313030A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Mol Genet Genomic Med2021
32460895The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.Genome Med2020
32092541Design and Reporting Considerations for Genetic Screening Tests.J Mol Diagn2020
32034940Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?Am J Med Genet A2020
32460895The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.Genome Med2020
33319814Clinical utility of genomic sequencing: a measurement toolkit.NPJ Genom Med2020
33110627Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.NPJ Genom Med2020
32034940Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?Am J Med Genet A2020
32092541Design and Reporting Considerations for Genetic Screening Tests.J Mol Diagn2020
33110627Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.NPJ Genom Med2020
33319814Clinical utility of genomic sequencing: a measurement toolkit.NPJ Genom Med2020
30453057Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.J Mol Diagn2019
30453057Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.J Mol Diagn2019
31023718Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.J Med Genet2019
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
30964585Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.J Genet Couns2019
31152168De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.Hum Mol Genet2019
31152168De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.Hum Mol Genet2019
30964584A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.J Genet Couns2019
30964585Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients.J Genet Couns2019
31023718Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.J Med Genet2019
29543230Response to Biesecker and Harrison.Genet Med2018
30283131Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.Nat Commun2018
29441218A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the <i>XIST</i> Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).J Pediatr Genet2018
29543230Response to Biesecker and Harrison.Genet Med2018
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
30283131Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.Nat Commun2018
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Collaborators

David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 14
Elizabeth A Worthey
Heersink School of Medicine, The University of Alabama at Birmingham
Co-authored papers 10
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 8
Shashikant Kulkarni
Centene Center for Health Transformation, Centene Corporation
Co-authored papers 6
John W Belmont
Baylor College of Medicine
Co-authored papers 5
Birgit Funke
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 4
Howard J Jacob
Genomics Research Center
Co-authored papers 4
Tina Hambuch
Invitae Corporation
Co-authored papers 4
Euan A Ashley
Stanford University
Co-authored papers 4
Ulrich Broeckel
Medical College of Wisconsin
Co-authored papers 3
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
Co-authored papers 3
Matthew J Ferber
Mayo Clinic
Co-authored papers 3
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 2
Paula E North
Co-authored papers 2
Monkol Lek
Co-authored papers 2
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 2
Christian R Marshall
Co-authored papers 2
Megan E Grove
Stanford Medicine Clinical Genomics Program
Co-authored papers 2
Kathryn N North
Murdoch Children's Research Institute
Co-authored papers 2
Vandana Shashi
Duke University School of Medicine
Co-authored papers 2
James F Gusella
Co-authored papers 2
Julie M Gastier-Foster
Baylor College of Medicine
Co-authored papers 2
Justin M Zook
National Institute of Standards and Technology
Co-authored papers 2
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 2
Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 2
Yaping Yang
Baylor College of Medicine
Co-authored papers 2
Velia M Fowler
Co-authored papers 2
Tom J Brett
Co-authored papers 2
Ira M Lubin
Centers for Disease Control and Prevention
Co-authored papers 2
Release 1.2