Deanne M. Taylor

发表

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

TBIO-27. GABRIELLA MILLER KIDS FIRST DATA RESOURCE CENTER ADVANCING GENETIC RESEARCH IN CHILDHOOD CANCER AND STRUCTURAL BIRTH DEFECTS THROUGH LARGE SCALE INTEGRATED DATA-DRIVEN DISCOVERY AND CLOUD-BASED PLATFORMS FOR COLLABORATIVE ANALYSIS

Robert L. Grossman, Lincoln Stein, Allison P. Heath, 2018 .

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Keith Marsolo, In-Hee Lee, Bria Morgan, 2019, Genetics in Medicine.

International comparisons of laboratory values from the 4CE collaborative to predict COVID-19 mortality

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2022, npj Digital Medicine.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

ReproTox-KG: Toxicology Knowledge Graph for Structural Birth Defects

Tudor I. Oprea, Jeremy J. Yang, Daniel J. B. Clarke, 2022, bioRxiv.

Multinational characterization of neurological phenotypes in patients hospitalized with COVID-19

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2021, Scientific Reports.

Petagraph: A large-scale unifying knowledge graph framework for integrating biomolecular and biomedical data

T. Callahan, J. Silverstein, Deanne M. Taylor, 2023, bioRxiv.

Abstract 2464: Gabriella Miller Kids First Data Resource Center: Harmonizing clinical and genomic data to support childhood cancer and structural birth defect research

Allison P. Heath, Jena V. Lilly, R. Grossman, 2019, Bioinformatics, Convergence Science, and Systems Biology.

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Allison P. Heath, Andrew Joseph Guidetti, I. Krantz, 2019, Genetics in Medicine.

Evolving phenotypes of non-hospitalized patients that indicate long COVID

Jason W. Moore, Brett K. Beaulieu-Jones, Tiago K. Colicchio, 2021, BMC Medicine.

Hospitalizations Associated With Mental Health Conditions Among Adolescents in the US and France During the COVID-19 Pandemic

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2022, JAMA network open.

What Every Reader Should Know About Studies Using Electronic Health Record Data but May Be Afraid to Ask (Preprint)

Jason W. Moore, Brett K. Beaulieu-Jones, Jeffrey G. Klann, 2020 .

Long-term kidney function recovery and mortality after COVID-19-associated acute kidney injury: An international multi-centre observational cohort study

Jason W. Moore, Brett K. Beaulieu-Jones, Florence T. Bourgeois, 2022, eClinicalMedicine.

Personas for the translational workforce

Allison P. Heath, Meen Chul Kim, Po-Yin Yen, 2020, Journal of Clinical and Translational Science.

Translational Personas and Hospital Library Services

Allison P. Heath, Meen Chul Kim, Po-Yin Yen, 2020, Journal of hospital librarianship.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

A Framework for the Interoperability of Cloud Platforms: Towards FAIR Data in SAFE Environments

Allison P. Heath, Rebecca R. Boyles, R. Grossman, 2022, Scientific data.