Melissa Haendel
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American epidemiologist and ontologist
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Medical Philosophy
Melissa Haendel's Degrees
- PhD Epidemiology University of California, Berkeley
- Masters Biomedical Informatics Stanford University
- Bachelors Biology University of California, Santa Cruz
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Why Is Melissa Haendel Influential?
(Suggest an Edit or Addition)According to Wikipedia, Melissa Anne Haendel is an American bioinformaticist who is the Chief Research Informatics Officer of the Anschutz Medical Campus of the University of Colorado as well as a Professor of Biochemistry and Molecular Genetics and the Marsico Chair in Data Science. She serves as Director of the Center for Data to Health . Her research makes use of data to improve the discovery and diagnosis of diseases. During the COVID-19 pandemic, Haendel joined with the National Institutes of Health to launch the National COVID Cohort Collaborative , which looks to identify the risk factors that can predict severity of disease outcome and help to identify treatments.
Melissa Haendel's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (2013) (789)
- The Human Phenotype Ontology in 2017 (2016) (640)
- Uberon, an integrative multi-species anatomy ontology (2012) (542)
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources (2018) (481)
- The Zebrafish Information Network: the zebrafish model organism database (2005) (388)
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery (2015) (375)
- The Human Phenotype Ontology in 2021 (2020) (373)
- Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation (2009) (311)
- Integrating phenotype ontologies across multiple species (2010) (305)
- Improved exome prioritization of disease genes through cross-species phenotype comparison (2014) (300)
- OBO-Edit - an ontology editor for biologists (2007) (293)
- Finding Our Way through Phenotypes (2015) (284)
- The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species (2016) (269)
- The Ontology for Biomedical Investigations (2009) (259)
- Next-generation diagnostics and disease-gene discovery with the Exomiser (2015) (247)
- On the reproducibility of science: unique identification of research resources in the biomedical literature (2013) (237)
- The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment (2020) (228)
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome (2014) (221)
- The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease (2015) (195)
- Classification, Ontology, and Precision Medicine. (2018) (192)
- Disease Model Discovery from 3,328 Gene Knockouts by The International Mouse Phenotyping Consortium (2017) (190)
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. (2016) (183)
- The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability (2016) (168)
- The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes (2007) (167)
- Phenotype ontologies: the bridge between genomics and evolution. (2007) (140)
- The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species (2019) (131)
- Deletions of chromosomal regulatory boundaries are associated with congenital disease (2014) (128)
- How many rare diseases are there? (2019) (127)
- Reproducible and reusable research: are journal data sharing policies meeting the mark? (2017) (123)
- Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon (2014) (118)
- CARO - The Common Anatomy Reference Ontology (2008) (115)
- Mrj encodes a DnaJ-related co-chaperone that is essential for murine placental development. (1999) (115)
- Achieving human and machine accessibility of cited data in scholarly publications (2015) (114)
- PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases (2015) (114)
- Clinical Characterization and Prediction of Clinical Severity of SARS-CoV-2 Infection Among US Adults Using Data From the US National COVID Cohort Collaborative (2021) (113)
- Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data (2017) (110)
- Developmental toxicity of the dithiocarbamate pesticide sodium metam in zebrafish. (2004) (107)
- Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research (2017) (92)
- CLO: The cell line ontology (2014) (91)
- The Teleost Anatomy Ontology: Anatomical Representation for the Genomics Age (2010) (90)
- Slow degeneration of zebrafish Rohon‐Beard neurons during programmed cell death (2004) (88)
- An overview of the BioCreative 2012 Workshop Track III: interactive text mining task (2013) (88)
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency (2015) (82)
- A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer (2020) (79)
- PDX-MI: Minimal Information for Patient-Derived Tumor Xenograft Models. (2017) (79)
- In vitro preselection of gene-trapped embryonic stem cell clones for characterizing novel developmentally regulated genes in the mouse. (1997) (77)
- Challenges in defining Long COVID: Striking differences across literature, Electronic Health Records, and patient-reported information (2021) (75)
- The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
- Dealing with Data: A Case Study on Information and Data Management Literacy (2012) (70)
- The Resource Identification Initiative: A Cultural Shift in Publishing (2016) (68)
- Navigating the Phenotype Frontier: The Monarch Initiative (2016) (64)
- Long-term use of immunosuppressive medicines and in-hospital COVID-19 outcomes: a retrospective cohort study using data from the National COVID Cohort Collaborative (2021) (63)
- GA4GH: International policies and standards for data sharing across genomic research and healthcare (2021) (62)
- A sea of standards for omics data: sink or swim? (2013) (61)
- Associations between HIV infection and clinical spectrum of COVID-19: a population level analysis based on US National COVID Cohort Collaborative (N3C) data (2021) (60)
- Matchmaker Exchange (2017) (60)
- Characteristics, Outcomes, and Severity Risk Factors Associated With SARS-CoV-2 Infection Among Children in the US National COVID Cohort Collaborative (2022) (57)
- Outcomes of SARS-CoV-2 Infection in Patients With Chronic Liver Disease and Cirrhosis: A National COVID Cohort Collaborative Study (2021) (56)
- Connecting evolutionary morphology to genomics using ontologies: a case study from Cypriniformes including zebrafish. (2007) (54)
- The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio (2014) (54)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (2018) (51)
- The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. (2019) (48)
- The Resource Identification Initiative: a cultural shift in publishing (2015) (45)
- A Unified Anatomy Ontology of the Vertebrate Skeletal System (2012) (44)
- A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network (2017) (44)
- New models for human disease from the International Mouse Phenotyping Consortium (2019) (42)
- Identifying who has long COVID in the USA: a machine learning approach using N3C data (2022) (38)
- Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery (2015) (38)
- Research resources: curating the new eagle-i discovery system (2012) (37)
- Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project (2020) (37)
- Sharing Clinical and Genomic Data on Cancer - The Need for Global Solutions. (2017) (37)
- OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies (2021) (36)
- Uberon: towards a comprehensive multi-species anatomy ontology (2009) (36)
- Is authorship sufficient for today’s collaborative research? A call for contributor roles (2020) (35)
- Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery (2019) (35)
- Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. (2020) (34)
- Leukaemia inhibitory factor (LIF) is functionally linked to axotrophin and both LIF and axotrophin are linked to regulatory immune tolerance (2005) (33)
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling (2020) (33)
- Nose to tail, roots to shoots: spatial descriptors for phenotypic diversity in the Biological Spatial Ontology (2014) (33)
- A Census of Disease Ontologies (2018) (31)
- An F-domain introduced by alternative splicing regulates activity of the zebrafish thyroid hormone receptor alpha. (2008) (30)
- Acute Upper Airway Disease in Children With the Omicron (B.1.1.529) Variant of SARS-CoV-2—A Report From the US National COVID Cohort Collaborative (2022) (30)
- Capturing phenotypes for precision medicine (2015) (30)
- The Resource Identification Initiative: A cultural shift in publishing. (2015) (29)
- Developing an Application Ontology for Biomedical Resource Annotation and Retrieval: Challenges and Lessons Learned (2011) (28)
- Association Between Glucagon-Like Peptide 1 Receptor Agonist and Sodium–Glucose Cotransporter 2 Inhibitor Use and COVID-19 Outcomes (2021) (28)
- The case for open science: rare diseases. (2020) (28)
- Disease insights through cross-species phenotype comparisons (2015) (27)
- Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics (2019) (27)
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing (2021) (26)
- Plain-language medical vocabulary for precision diagnosis (2018) (26)
- FAIRshake: Toolkit to Evaluate the FAIRness of Research Digital Resources. (2019) (25)
- Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience (2017) (25)
- A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants (2018) (25)
- Clinical interpretation of CNVs with cross-species phenotype data (2014) (24)
- Cytoskeletal changes during neurogenesis in cultures of avian neural crest cells (1996) (23)
- The health care and life sciences community profile for dataset descriptions (2016) (22)
- The Resource Identification Initiative: A cultural shift in publishing (2015) (22)
- The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems (2021) (21)
- matchbox: An open‐source tool for patient matching via the Matchmaker Exchange (2018) (19)
- Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science (2022) (19)
- Characteristics of undiagnosed diseases network applicants: implications for referring providers (2018) (19)
- k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction (2016) (19)
- KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response (2020) (18)
- The Resource Identification Initiative: A cultural shift in publishing (2015) (18)
- Coding Long COVID: Characterizing a new disease through an ICD-10 lens (2022) (18)
- Ten quick tips for biocuration (2019) (18)
- An analysis and metric of reusable data licensing practices for biomedical resources (2019) (17)
- Laying a Community-Based Foundation for Data-Driven Semantic Standards in Environmental Health Sciences (2016) (17)
- Dataset Descriptions: HCLS Community Profile (2015) (17)
- ClinGen advancing genomic data‐sharing standards as a GA4GH driver project (2018) (17)
- The Data Use Ontology to streamline responsible access to human biomedical datasets (2021) (17)
- Proceedings of a Sickle Cell Disease Ontology workshop — Towards the first comprehensive ontology for Sickle Cell Disease (2016) (17)
- Summarizing and visualizing structural changes during the evolution of biomedical ontologies using a Diff Abstraction Network (2015) (17)
- The GA4GH Phenopacket schema defines a computable representation of clinical data (2022) (16)
- OpenVIVO: Transparency in Scholarship (2018) (16)
- Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. (2017) (16)
- Children with SARS-CoV-2 in the National COVID Cohort Collaborative (N3C) (2021) (15)
- Ontology-based data integration for advancing toxicological knowledge (2019) (15)
- Synergies between centralized and federated approaches to data quality: a report from the national COVID cohort collaborative (2021) (15)
- The influence of disease categories on gene candidate predictions from model organism phenotypes (2014) (15)
- Uberon, an integrative multi-species anatomy (2012) (15)
- The landscape of nutri-informatics: a review of current resources and challenges for integrative nutrition research (2021) (15)
- Sharing biological data: why, when, and how (2021) (15)
- SEPIO: A Semantic Model for the Integration and Analysis of Scientific Evidence (2016) (15)
- Thematic series on biomedical ontologies in JBMS: challenges and new directions (2014) (15)
- Ontology based molecular signatures for immune cell types via gene expression analysis (2013) (14)
- NSAID use and clinical outcomes in COVID-19 patients: A 38-center retrospective cohort study (2021) (14)
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative (2019) (14)
- An ontology-based method for secondary use of electronic dental record data (2013) (13)
- The Porifera Ontology (PORO): enhancing sponge systematics with an anatomy ontology (2014) (13)
- Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations (2020) (13)
- A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population (2020) (12)
- A Simple Standard for Sharing Ontological Mappings (SSSOM) (2021) (12)
- Community Approaches for Integrating Environmental Exposures into Human Models of Disease (2020) (12)
- Mondo Disease Ontology: Harmonizing Disease Concepts Across the World (short paper) (2020) (10)
- Use of animal models for exome prioritization of rare disease genes (2014) (10)
- A Measure of Open Data: A Metric and Analysis of Reusable Data Practices in Biomedical Data Resources (2018) (10)
- The Global academic research organization network: Data sharing to cure diseases and enable learning health systems (2018) (10)
- Generalisable long COVID subtypes: Findings from the NIH N3C and RECOVER programmes (2022) (10)
- Finding our way through phenotypes. PLoS Biology 13(1): e1002033. (2015) (10)
- Phenotype Ontologies Traversing All The Organisms (POTATO) workshop aims to reconcile logical definitions across species. Workshop Report (2018) (9)
- FAIRshake: toolkit to evaluate the findability, accessibility, interoperability, and reusability of research digital resources (2019) (9)
- Cyclooxygenase inhibitor use is associated with increased COVID-19 severity (2021) (9)
- The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine (2021) (9)
- New models for human disease from the International Mouse Phenotyping Consortium (2019) (9)
- Transforming the study of organisms: Phenomic data models and knowledge bases (2020) (9)
- Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs (2022) (8)
- Ontology Development Kit: a toolkit for building, maintaining and standardizing biomedical ontologies (2022) (8)
- Association Between COVID-19 and Mortality in Hip Fracture Surgery in the National COVID Cohort Collaborative (N3C): A Retrospective Cohort Study (2022) (8)
- Ontologies, Knowledge Representation, and Machine Learning for Translational Research: Recent Contributions (2020) (7)
- Risk Factors Associated with Post-Acute Sequelae of SARS-CoV-2 in an EHR Cohort: A National COVID Cohort Collaborative (N3C) Analysis as part of the NIH RECOVER program (2022) (7)
- Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery (2019) (7)
- The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research (2019) (7)
- Abstract 2464: Gabriella Miller Kids First Data Resource Center: Harmonizing clinical and genomic data to support childhood cancer and structural birth defect research (2019) (7)
- The impact of biological sex on alternative splicing (2018) (7)
- Data-driven method to enhance craniofacial and oral phenotype vocabularies. (2019) (6)
- Unifying the identification of biomedical entities with the Bioregistry (2022) (6)
- What's in a Genotype?: An Ontological Characterization for Integration of Genetic Variation Data (2013) (6)
- Risk of new‐onset psychiatric sequelae of COVID‐19 in the early and late post‐acute phase (2022) (6)
- The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation (2019) (5)
- Finding common ground: integrating the eagle-i and VIVO ontologies (2013) (5)
- Meeting report: Identifying practical applications of ontologies for biodiversity informatics (2015) (5)
- eagle-i: An Ontology-Driven Framework For Biomedical Resource Curation And Discovery (2010) (5)
- From Reductionism to Reintegration: Solving society’s most pressing problems requires building bridges between data types across the life sciences (2021) (5)
- Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. (2019) (5)
- Teaching data science fundamentals through realistic synthetic clinical cardiovascular data (2017) (5)
- Muscle Logic: New Knowledge Resource for Anatomy Enables Comprehensive Searches of the Literature on the Feeding Muscles of Mammals (2016) (5)
- Long COVID Risk and Pre-COVID Vaccination: An EHR-Based Cohort Study from the RECOVER Program (2022) (5)
- Harmonizing units and values of quantitative data elements in a very large nationally pooled electronic health record (EHR) dataset (2022) (5)
- One is the loneliest number: genotypic matchmaking using the electronic health record (2021) (4)
- Resource Identification Initiative (2014) (4)
- The landscape of nutri-informatics: a review of current resources and challenges for integrative nutrition research. (2021) (4)
- Reproducibility and conflicts in immune epitope data (2016) (4)
- Aligning Research Resource and Researcher Representation: The eagle-i and VIVO Use Case (2011) (4)
- Developing a Reagent Application Ontology within the OBO Foundry Framework (2011) (4)
- Sleep and Circadian Informatics Data Harmonization: A Workshop Report from the Sleep Research Society and Sleep Research Network. (2022) (4)
- NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study (2022) (4)
- Beyond Low Earth Orbit: Biomonitoring, Artificial Intelligence, and Precision Space Health (2021) (3)
- Structuring, reuse and analysis of electronic dental data using the Oral Health and Disease Ontology (2020) (3)
- Vaccination Against SARS-CoV-2 Decreases Risk of Adverse Events in Patients who Develop COVID-19 Following Cancer Surgery (2022) (3)
- Gold-standard ontology-based anatomical annotation in the CRAFT Corpus (2017) (3)
- From EHRs to Linked Data: representing and mining encounter data for clinical expertise evaluation. (2013) (3)
- Who has long-COVID? A big data approach (2021) (3)
- The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice. (2022) (3)
- Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience (2016) (3)
- The Effect of the COVID-19 Pandemic on Pulmonary Diagnostic Procedures (2021) (3)
- Gene trapping in embryonic stem cells in vitro to identify novel developmentally regulated genes in the mouse. (2000) (3)
- The Linked Data Modeling Language (LinkML): A General-Purpose Data Modeling Framework Grounded in Machine-Readable Semantics (2021) (3)
- Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)) (2019) (3)
- An F-Domain Introduced by Alternative Splicing Regulates Activity of the Zebrafish Thyroid Hormone Receptor α : Role of zebrafish TR α F-domain (2013) (3)
- Enhancing the Human Phenotype Ontology for Use by the Layperson (2016) (3)
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts (2019) (3)
- A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population (2019) (2)
- Eagle-i: Making Invisible Resources, Visible. (2010) (2)
- NLP and Phenotypes: using Ontologies to link Human Diseases to Animal Models (2008) (2)
- 10 Simple rules for design, provision, and reuse of identifiers for web-based life science data (2015) (2)
- Bioinformatics of behavior (2012) (2)
- Implementation of Zebrafish Ontologies for Toxicology Screening (2022) (2)
- Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation (2022) (2)
- 10 Simple rules for design, provision, and reuse of persistent identifiers for life science data (2015) (2)
- Software Discovery Index Workshop Report (2015) (2)
- Increased risk of psychiatric sequelae of COVID-19 is highest early in the clinical course (2021) (2)
- What is an anatomy ontology? (2013) (2)
- The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio (2014) (2)
- Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology (2022) (2)
- The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond (2023) (2)
- Building a Molecular Glyco-phenotype Ontology to Decipher Undiagnosed Diseases (2016) (2)
- Response to Biesecker et al. (2021) (2)
- Tailoring the NCI Thesaurus for Use in The OBO Library (2017) (2)
- Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study (2021) (2)
- Gold-Standard Ontology-Based Annotation of Concepts in Biomedical Text in the CRAFT Corpus: Updates and Extensions (2016) (2)
- The Monarch Initiative: Insights across species reveal human disease mechanisms (2016) (2)
- Eagle-i: Ontology-driven Federated Search and Data Entry Tools for Discovering Biomedical Research Resources (2013) (2)
- An Open Natural Language Processing Development Framework for EHR-based Clinical Research: A case demonstration using the National COVID Cohort Collaborative (N3C) (2021) (2)
- obo-relations: 2015-10-29 release (2015) (2)
- Big Data to Knowledge Open Educational Resources: Development and Dissemination Considerations (2016) (2)
- The Porifera Ontology (PORO): enhancing sponge systematics with an anatomy ontology (2014) (1)
- Deletions of chromosomal regulatory boundaries are associated with congenital disease (2014) (1)
- INNOVATIVE APPROACHES TO COMBINING GENOTYPE, PHENOTYPE, EPIGENETIC, AND EXPOSURE DATA FOR PRECISION DIAGNOSTICS. (2016) (1)
- How many rare diseases are there? (2019) (1)
- Ontology based molecular signatures for immune cell types via gene expression analysis (2013) (1)
- An Ontology-Based Approach to Linking Model Organisms and Resources to Human Diseases (2011) (1)
- Enabling semantic search in a bio-specimen repository (2013) (1)
- GA4GH Phenopackets: A Practical Introduction (2022) (1)
- A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer (2020) (1)
- NCI Semantic Competency Query Review (2020) (1)
- CLO: The cell line ontology (2014) (1)
- Analyzing historical diagnosis code data from NIH N3C and RECOVER Programs using deep learning to determine risk factors for Long Covid (2022) (1)
- Metformin is associated with reduced COVID-19 severity in patients with prediabetes (2022) (1)
- Uberon, an integrative multi-species anatomy ontology (2012) (1)
- Identifiers for the 21 st century : How to design , provision , and reuse identifiers to maximize data utility and impact (2016) (1)
- Methodphenotype ontologies across multiple species (2010) (1)
- Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon (2014) (1)
- The influence of disease categories on gene candidate predictions from model organism phenotypes (2014) (1)
- A pipeline for biomedical ontology maintenance and release: cur- rent status and future requirements (2013) (1)
- Metformin is Associated with Reduced COVID-19 Severity in Patients with Prediabetes (2022) (1)
- Ankle Fracture and Length of Stay in US Adult Population Using Data From the National COVID Cohort Collaborative (2022) (1)
- uPheno 2: Framework for standardised representation of phenotypes across species (2019) (1)
- Lost and found in behavioral informatics. (2012) (1)
- Lions, Tigers, and Gummi Bears: Springing Towards Effective Engagement with Research Data Management (2014) (1)
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing. (2021) (1)
- 16 CARO — The Common Anatomy Reference Ontology (2007) (1)
- Clinical encounter heterogeneity and methods for resolving in networked EHR data: A study from N3C and RECOVER programs (2022) (1)
- Beyond Low Earth Orbit: Biological Research, Artificial Intelligence, and Self-Driving Labs (2021) (1)
- Aligning the Human Phenotype and Mammalian Phenotype Ontology using Dead Simple Ontology Design Patterns (2017) (1)
- A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases (2021) (1)
- Ensuring a safe(r) harbor: Excising personally identifiable information from structured electronic health record data (2021) (1)
- Modularization for the Cell Ontology (2011) (1)
- Ontologizing Health Systems Data at Scale: Making Translational Discovery a Reality (2022) (1)
- Reclassification of Infectious Disease in the Mondo Disease Ontology (2021) (0)
- 12-2014 Lions , Tigers , and Gummi Bears : Springing Towards Effective Engagement with Research Data Management (2017) (0)
- cell-ontology: 2015-10-29 release (2015) (0)
- Review The case for open science: rare diseases (2020) (0)
- Global research consortia and data harmonization projects drive the clinical interpretation of cancers (2020) (0)
- Risk for Stillbirth among Pregnant Individuals with SARS-CoV-2 Infection Varied by Gestational Age (2023) (0)
- Reintegrating biology: A data-centric approach. (0)
- Community risks for SARS-CoV-2 infection among fully vaccinated US adults by rurality: A retrospective cohort study from the National COVID Cohort Collaborative (2023) (0)
- The CTSA Program Center for Data to Health: Leveraging Library Expertise (2018) (0)
- Aberystwyth University Integrating phenotype ontologies across multiple species (2010) (0)
- A free NCRR resource for finding and using human disease models (65.46) (2011) (0)
- Disease insights through cross-species phenotype comparisons (2015) (0)
- A semantic framework leveraging pattern-based ontology terms to bridge environmental exposures and health outcomes (2021) (0)
- KG-Hub - Building and Exchanging Biological Knowledge Graphs (2023) (0)
- Alignment of Cultured Cell Modeling Across OBO Foundry Ontologies: Key Outcomes, Insights (2013) (0)
- TRANSPLANTATION TOLERANCE IS LINKED TO STAT3, LIF AND AXOTROPHIN. (2004) (0)
- Data quality considerations for evaluating COVID-19 treatments using real world data: learnings from the National COVID Cohort Collaborative (N3C) (2023) (0)
- Evolution and the proteome : Insights into protein function from deeply conserved gene modules (2016) (0)
- Updating and extending the concept annotations of the CRAFT corpus (2016) (0)
- Risk of severe acute respiratory syndrome coronavirus 2 infection among women with polycystic ovary syndrome (2023) (0)
- Original article Research resources: curating the new eagle-i discovery system y (2012) (0)
- 10 simple rules for making data web friendly (2015) (0)
- Recommended practices and ethical considerations for natural language processing‐assisted observational research: A scoping review (2022) (0)
- Classifying Animal Breeds with the Vertebrate Breed Ontology (VBO) (0)
- Post-COVID Phenotypic Manifestations are Associated with New-Onset Psychiatric Disease: Findings from the NIH N3C and RECOVER Studies. (2022) (0)
- The Monarch Initiative: Semantic data integration across species and sources for disease discovery (2017) (0)
- May The FORCE11 Be With The Research Parasites (2016) (0)
- Tools for exploring mouse models of human disease (2016) (0)
- The Bioregistry: Unifying the Identification of Biomedical Entities through an Integrative, Open, Community-driven Metaregistry (2022) (0)
- TMOD-19. GABRIELLA MILLER KIDS FIRST DATA RESOURCE CENTER: LARGE-SCALE HARMONIZED CLINICAL AND GENOMIC DATA PLATFORM TO SUPPORT CHILDHOOD CANCER AND STRUCTURAL BIRTH DEFECT RESEARCH (2019) (0)
- Drug repositioning candidates identified using in-silico quasi-quantum molecular simulation demonstrate reduced COVID-19 mortality in 1.5M patient records (2021) (0)
- Enhancing SciENcv through Semantic Research Profile Integration with the VIVO-ISF Ontology (2016) (0)
- Making it count: a computational approach to attribution (2018) (0)
- EPID-14. GABRIELLA MILLER KIDS FIRST DATA RESOURCE CENTER: COLLABORATIVE PLATFORMS FOR ACCELERATING RESEARCH IN PEDIATRIC CANCERS & STRUCTURAL BIRTH DEFECTS (2020) (0)
- A need for better data sharing policies: a review of data sharing policies in biomedical journals (2017) (0)
- Architecting Attribution: expanding the scope of academic credit (2019) (0)
- The field of bioinformatics. Preface. (2012) (0)
- The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability (2016) (0)
- cell-ontology: 2016-09-02 release (2016) (0)
- Measuring Success Through Improved Attribution.pdf (2015) (0)
- A Semantic Model Leveraging Pattern-based Ontology Terms to Bridge Environmental Exposures and Health Outcomes (2021) (0)
- Hormone Replacement Therapy and COVID-19 Outcomes in Solid Organ Transplant Recipients Compared with the General Population (2023) (0)
- Developmental Cell Perspective The Pediatric Cell Atlas : Defining the Growth Phase of Human Development at Single-Cell Resolution (0)
- Coding long COVID: characterizing a new disease through an ICD-10 lens (2023) (0)
- obo-relations: 2016-06-15 release (2016) (0)
- Identification Analysis of RP:CB (2014) (0)
- Plain-language medical vocabulary for precision diagnosis (2018) (0)
- Teleost Anatomy Ontology (revision 2012-08-10) (2015) (0)
- oborel/obo-relations: release 2021-08-25 (2021) (0)
- Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study (Preprint) (2020) (0)
- Who is pregnant? defining real-world data-based pregnancy episodes in the National COVID Cohort Collaborative (N3C) (2022) (0)
- Nose to tail, roots to shoots: spatial descriptors for phenotypic diversity in the Biological Spatial Ontology (2014) (0)
- A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative (2018) (0)
- A method for comparing multiple imputation techniques: a case study on the U.S. National COVID Cohort Collaborative (2022) (0)
- Perspective Finding Our Way through Phenotypes (2014) (0)
- Abstract 6576: Gabriella Miller Kids First Data Resource Center (KFDRC): Empowering discovery across germline and somatic variation in pediatric cancer (2023) (0)
- Computing on the anatomical form for disease discovery (338.1) (2014) (0)
- Training future biocurators through data science trainings and open educational resources (2017) (0)
- 129. Standardization of cancer terminology in the Mondo Disease Ontology (2022) (0)
- SARS-CoV-2 Reinfection is Preceded by Unique Biomarkers and Related to Initial Infection Timing and Severity: an N3C RECOVER EHR-Based Cohort Study (2023) (0)
- obo-relations: 2015-10-28 release (2015) (0)
- Research Communication Workshop (2014) (0)
- Major challenges on authorship and concept of authorship - why is something more needed on contributorship? (2020) (0)
- LOINC2HPO: Curation of Phenotype Data from the Electronic Health Records using the Human Phenotype Ontology (2019) (0)
- cell-ontology: 2016-02-01 release (2016) (0)
- Thematic series on biomedical ontologies in JBMS: challenges and new directions (2014) (0)
- obo-relations: 2015-12-18 release (2015) (0)
- Finding Our Way Through Phenotypes (2019) (0)
- Expanding the Molecular Glycophenotype Ontology to include model organisms and acquired diseases (2018) (0)
- Structured prompt interrogation and recursive extraction of semantics (SPIRES): A method for populating knowledge bases using zero-shot learning (2023) (0)
- obo-relations: 2016-02-24 release (2016) (0)
- Structuring, reuse and analysis of electronic dental data using the Oral Health and Disease Ontology (2020) (0)
- Meeting report: Identifying practical applications of ontologies for biodiversity informatics (2015) (0)
- 25: CHARACTERISTICS AND OUTCOMES OF 728,047 CHILDREN IN THE NATIONAL COVID COHORT COLLABORATIVE (N3C) (2021) (0)
- obo-relations: 2016-09-02 release (2016) (0)
- A centralized smart platform for open sharing of iPS cell information (2014) (0)
- Aberystwyth Uberon, an integrative multi-species anatomy ontology (2012) (0)
- cell-ontology: 2015-08-08 release (2015) (0)
- pato: 2016-05-22 release (2016) (0)
- The Ontology of Biological Attributes (OBA)-computational traits for the life sciences. (2023) (0)
- obo-relations: 2016-05-13 release (2016) (0)
- The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences (2023) (0)
- Testing Two Patient Surveys for Diagnosing Rare Genetic Conditions (2021) (0)
- obo-relations: 2016-08-24 release (2016) (0)
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