ArticleCell2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
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In one paragraph
Article in Cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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74citing papers in PubMed
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
74 citing papers in PubMed.
- Human CRY1 variants associate with attention deficit/hyperactivity disorder.The Journal of clinical investigation · 2020Trial
- Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.Pediatrics · 2019Trial
- Rare diseases in the Turkish-Cypriot community: a nationwide study.Journal of community genetics · 2026Article
- Quantifying new threats to health and biomedical literature integrity from rapidly scaled publications and problematic research.Journal of clinical epidemiology · 2026Article
- Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.Genes · 2025Article
- When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research.Genetics in medicine open · 2025Article
- MVAR: A Mouse Variation Registry.Journal of molecular biology · 2024Article
- Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing.Scientific data · 2024Article
- Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.Cell & bioscience · 2024Review
- Researchers' Perspectives Regarding Ethical Issues of Biobank Research in the Arab Region.Biopreservation and biobanking · 2024Article
- Perry Disease: Bench to Bedside Circulation and a Team Approach.Biomedicines · 2024Article
- Lynch syndrome, molecular mechanisms and variant classification.British journal of cancer · 2023Review
- Phenotypic Modulation of Cancer-Associated Antioxidant NQO1 Activity by Post-Translational Modifications and the Natural Diversity of the Human Genome.Antioxidants (Basel, Switzerland) · 2023Review
- Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases.Journal of personalized medicine · 2023Article
- An atlas of amyloid aggregation: the impact of substitutions, insertions, deletions and truncations on amyloid beta fibril nucleation.Nature communications · 2022Article
- Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.The Journal of allergy and clinical immunology · 2022Review
- Article
- Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila.Methods in molecular biology (Clifton, N.J.) · 2022Article
- TiMEG: an integrative statistical method for partially missing multi-omics data.Scientific reports · 2021Article
- Characterization of the Testis-specificJournal of the Endocrine Society · 2021Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors.
Teri A ManolioNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: manolio@nih.gov.
Douglas M FowlerDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Lea M StaritaDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Melissa A HaendelDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health and Science University, Portland, OR 97239, USA.
Daniel G MacArthurProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Elizabeth WortheyHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Rex L ChisholmCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Eric D GreenNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Howard J JacobHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Howard L McLeodDeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL 33612, USA.
Dan RodenDepartment of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37203, USA.
Laura Lyman RodriguezNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Nancy J CoxDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN 37203, USA.
Gail E HermanInstitute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Stephen KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Cecilia LoDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 1526, USA.
Cathleen LutzRare and Orphan Disease Center, Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Calum A MacRaeDivisions of Cardiovascular Medicine, Network Medicine and Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.
Robert L NussbaumInvitae Genetics Information and Testing Company, San Francisco, CA 94107, USA.
Jose M OrdovasJM-USDA-Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA.
Erin M RamosNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Wendy S RubinsteinNational Center for Biotechnology Information, National Library of Medicine, NIH, Bethesda, MD 20892, USA.
Christine SeidmanDepartment of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Barbara E StrangerSection of Genetic Medicine, Department of Medicine, Institute for Genomics and Systems Biology, Center for Data Intensive Science, University of Chicago, Chicago, IL 60637, USA.
Haoyi WangThe Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Monte WesterfieldDepartment of Biology, University of Oregon, Portland, OR 97403, USA.
Carol BultThe Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Funding
The Mutant Mouse Resource and Research Center at The Jackson LaboratoryU42OD010921 · OD · JACKSON LABORATORY · PI Cathleen M Lutz · 2012 to 2026
$21.4MThe Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0MGenomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5MA Community Zebrafish Resource for Modeling GWAS BiologyR24OD017870 · OD · BRIGHAM AND WOMEN'S HOSPITAL · PI GOESSLING, WOLFRAM, MACRAE, CALUM A. · 2014 to 2021
$6.3MClinical Genome Wide Sequencing Core for the Undiagnosed Disease NetworkU01HG007943 · NHGRI · MEDICAL COLLEGE OF WISCONSIN · PI WORTHEY, ELIZABETH A · 2014 to 2017
$4.1MLarge-Scale Methods for Assessing the Consequences of Mutations in ProteinsR01GM109110 · NIGMS · UNIVERSITY OF WASHINGTON · PI FOWLER, DOUGLAS M · 2014 to 2021
$2.4MF-CAP: Functionalization of Variants in Clinically Actionable PharmacogenesR24GM115277 · NIGMS · UNIVERSITY OF WASHINGTON · PI FOWLER, DOUGLAS M, RETTIE, ALLAN EDWARD · 2015 to 2017
$2.2MIntramural NIH HHS Z99 HG999999NHGRI NIH HHS U01 HG007943NHGRI NIH HHS UM1 HG007301NIGMS NIH HHS R01 GM109110NIGMS NIH HHS R24 GM115277NIH HHS R24 OD011883NIH HHS R24 OD017870NIH HHS U42 OD010921
Abstract
Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.
Indexed as
Biomedical ResearchGenomicsAnimalsDatabases, GeneticDiseaseDNA Mutational AnalysisHuman Genome ProjectHumansInformation DisseminationModels, Animal
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.