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Lista de obras de Melissa Haendel

A Census of Disease Ontologies

artículo científico publicado en 2018

A Measure of Open Data: A Metric and Analysis of Reusable Data Practices in Biomedical Data Resources

scholarly article published 16 March 2018

A Simple Standard for Sharing Ontological Mappings (SSSOM)

artículo científico publicado en 2022

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

artículo científico publicado en 2016

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

artículo científico publicado en 2020

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

scientific article published on 23 November 2020

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

artículo científico publicado en 2021

A sea of standards for omics data: sink or swim?

artículo científico publicado en 2014

A unified anatomy ontology of the vertebrate skeletal system

artículo científico publicado en 2012

Achieving human and machine accessibility of cited data in scholarly publications

artículo científico publicado en 2015

Achieving human and machine accessibility of cited data in scholarly publications

Achieving human and machine accessibility of cited data in scholarly publications

Achieving human and machine accessibility of cited data in scholarly publications

Achieving human and machine accessibility of cited data in scholarly publications

Achieving human and machine accessibility of cited data in scholarly publications

article published in 2015

An F-domain introduced by alternative splicing regulates activity of the zebrafish thyroid hormone receptor alpha

scientific article published on 27 April 2007

An analysis and metric of reusable data licensing practices for biomedical resources

An ontology-based method for secondary use of electronic dental record data

artículo científico publicado en 2013

An overview of the BioCreative 2012 Workshop Track III: interactive text mining task

artículo científico publicado en 2013

Association Between COVID-19 and Mortality in Hip Fracture Surgery in the National COVID Cohort Collaborative (N3C): A Retrospective Cohort Study

artículo científico publicado en 2022

Associations between HIV infection and clinical spectrum of COVID-19: a population level analysis based on US National COVID Cohort Collaborative (N3C) data

artículo científico publicado en 2021

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

scientific article published on 14 December 2020

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

artículo científico publicado en 2017

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science ⬇️

artículo científico publicado en 2022

CARO – The Common Anatomy Reference Ontology

article

CLO: The cell line ontology

artículo científico publicado en 2014

Capturing phenotypes for precision medicine

artículo científico publicado en 2015

Characterizing Long COVID: Deep Phenotype of a Complex Condition

artículo científico publicado en 2021

Classification, Ontology, and Precision Medicine

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

artículo científico publicado en 2018

Clinical interpretation of CNVs with cross-species phenotype data

artículo científico publicado en 2014

Community Approaches for Integrating Environmental Exposures into Human Models of Disease

artículo científico publicado en 2020

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

artículo científico publicado en 2015

Connecting evolutionary morphology to genomics using ontologies: a case study from Cypriniformes including zebrafish

artículo científico publicado en 2007

Cytoskeletal changes during neurogenesis in cultures of avian neural crest cells

article

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

artículo científico publicado en 1998

Data-driven method to enhance craniofacial and oral phenotype vocabularies

scientific article published on 01 November 2019

Dealing with Data: A Case Study on Information and Data Management Literacy ⬇️

artículo científico publicado el 29 de mayo de 2012

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

artículo científico publicado en 2017

Deletions of chromosomal regulatory boundaries are associated with congenital disease

artículo científico publicado en 2014

Developmental toxicity of the dithiocarbamate pesticide sodium metam in zebrafish

artículo científico publicado en 2004

Disease insights through cross-species phenotype comparisons

artículo científico publicado en 2015

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

artículo científico publicado en 2017

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

artículo científico publicado en 2016

Drug repositioning candidates identified using in-silico quasi-quantum molecular simulation demonstrate reduced COVID-19 mortality in 1.5M patient records

scholarly article by Joy Alamgir published in 2021

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

artículo científico publicado en 2014

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

scientific article published on 01 September 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

FAIRshake: Toolkit to Evaluate the FAIRness of Research Digital Resources

scientific article published on 30 October 2019

Finding our way through phenotypes

artículo científico publicado en 2015

From EHRs to Linked Data: representing and mining encounter data for clinical expertise evaluation

artículo científico publicado en 2013

From Reductionism to Reintegration: Solving society's most pressing problems requires building bridges between data types across the life sciences

GA4GH: International policies and standards for data sharing across genomic research and healthcare

artículo científico publicado en 2021

Gold-standard ontology-based anatomical annotation in the CRAFT Corpus

article

How many rare diseases are there?

artículo científico publicado en 2020

IRF2BPL Is Associated with Neurological Phenotypes

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

artículo científico publicado en 2017

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

artículo científico publicado en 2017

Implementation of Zebrafish Ontologies for Toxicology Screening

artículo científico publicado en 2022

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Improved exome prioritization of disease genes through cross-species phenotype comparison

artículo científico publicado en 2014

Integrating phenotype ontologies across multiple species

artículo científico publicado en 2010

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

scientific article published on 29 July 2020

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

scholarly article published 28 January 2020

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

artículo científico publicado en 2021

Is authorship sufficient for today's collaborative research? A call for contributor roles

artículo científico publicado en 2020

KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response

artículo científico publicado en 2020

KG-Hub -- Building and Exchanging Biological Knowledge Graphs

preprint published in 2023

KG-Hub—building and exchanging biological knowledge graphs

artículo científico publicado en 2023

Laying a Community-Based Foundation for Data-Driven Semantic Standards in Environmental Health Sciences

artículo científico publicado en 2016

Leukaemia inhibitory factor (LIF) is functionally linked to axotrophin and both LIF and axotrophin are linked to regulatory immune tolerance

scientific journal article

Linking human diseases to animal models using ontology-based phenotype annotation

artículo científico publicado en 2009

Lost and found in behavioral informatics

artículo científico

Matchmaker Exchange

artículo científico publicado en 2017

Meeting report: Identifying practical applications of ontologies for biodiversity informatics.

artículo científico publicado en 2015

Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project

scientific article published on 16 September 2020

Modularization for the Cell Ontology

Modularization for the Cell Ontology

artículo científico publicado en 2011

Mondo: Unifying diseases for the world, by the world

Muscle Logic: New Knowledge Resource for Anatomy Enables Comprehensive Searches of the Literature on the Feeding Muscles of Mammals

artículo científico publicado en 2016

NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study

artículo científico publicado en 2022

Navigating the Phenotype Frontier: The Monarch Initiative

artículo científico publicado en 2016

Navigating the phenotype frontier: The Monarch Initiative

New models for human disease from the International Mouse Phenotyping Consortium

artículo científico publicado en 2019

Next-generation diagnostics and disease-gene discovery with the Exomiser

artículo científico publicado en 2015

Nose to tail, roots to shoots: spatial descriptors for phenotypic diversity in the Biological Spatial Ontology

artículo científico publicado en 2014

OBO Foundry in 2021: operationalizing open data principles to evaluate ontologies

artículo científico publicado en 2021

OBO-Edit--an ontology editor for biologists

artículo científico publicado en 2007

On the reproducibility of science: unique identification of research resources in the biomedical literature

artículo científico publicado en 2013

One is the loneliest number: genotypic matchmaking using the electronic health record

artículo científico publicado en 2021

Ontologies, Knowledge Representation, and Machine Learning for Translational Research: Recent Contributions

artículo científico publicado en 2020

Ontology Development Kit: a toolkit for building, maintaining, and standardising biomedical ontologies

preprint published on 06 July 2022

Ontology based molecular signatures for immune cell types via gene expression analysis

artículo científico publicado en 2013

OpenVIVO: Transparency in Scholarship

OpenVIVO: Transparency in Scholarship

artículo científico publicado en 2017

PDX-MI: Minimal Information for Patient-Derived Tumor Xenograft Models.

artículo científico publicado en 2017

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

artículo científico publicado en 2015

Phenotype ontologies: the bridge between genomics and evolution

artículo científico

Plain-language medical vocabulary for precision diagnosis.

artículo científico publicado en 2018

Preface

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

artículo científico publicado en 2022

Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease

artículo científico publicado en 2016

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery

scientific article published on 01 January 2019

Reproducibility and conflicts in immune epitope data

artículo científico publicado en 2015

Reproducible and reusable research: Are journal data sharing policies meeting the mark?

artículo científico publicado en 2016

Reproducible and reusable research: are journal data sharing policies meeting the mark?

artículo científico publicado en 2017

Research resources: curating the new eagle-i discovery system ⬇️

artículo científico publicado en 2012

Semantic Integration of Clinical Laboratory Tests from Electronic Health Records for Deep Phenotyping and Biomarker Discovery: Supplementary materials

article

Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

article

Sharing Clinical and Genomic Data on Cancer - The Need for Global Solutions

artículo científico publicado en 2017

Sharing biological data: why, when, and how

scientific article published in 2021

Sleep and circadian informatics data harmonization: a workshop report from the Sleep Research Society and Sleep Research Network

artículo científico publicado en 2022

Slow degeneration of zebrafish Rohon-Beard neurons during programmed cell death

artículo científico publicado en 2004

Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning

artículo científico publicado en 2024

Structuring, reuse and analysis of electronic dental data using the Oral Health and Disease Ontology

artículo científico publicado en 2020

Summarizing and visualizing structural changes during the evolution of biomedical ontologies using a Diff Abstraction Network

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Teaching data science fundamentals through realistic synthetic clinical cardiovascular data

scholarly article published 12 December 2017

Ten quick tips for biocuration

artículo científico publicado en 2019

The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability

artículo científico publicado en 2016

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

artículo científico publicado en 2022

The Data Use Ontology to streamline responsible access to human biomedical datasets

artículo científico publicado en 2021

The Global academic research organization network: Data sharing to cure diseases and enable learning health systems

scientific article published on 03 December 2018

The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research

scientific article published on 21 November 2019

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology in 2021

artículo científico publicado en 2020

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

artículo científico publicado en 2014

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

artículo científico publicado en 2015

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

artículo científico publicado en 2021

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2020

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2017

The Ontology for Biomedical Investigations

artículo científico publicado en 2016

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution

scientific article published on 28 March 2019

The Porifera Ontology (PORO): enhancing sponge systematics with an anatomy ontology

artículo científico publicado en 2014

The Resource Identification Initiative: A Cultural Shift in Publishing

artículo científico publicado en 2016

The Resource Identification Initiative: A Cultural Shift in Publishing

artículo científico publicado en 2015

The Resource Identification Initiative: A cultural shift in publishing

artículo científico publicado en 2015

The Resource Identification Initiative: a cultural shift in publishing

artículo científico publicado en 2016

The Zebrafish Information Network: the zebrafish model organism database ⬇️

artículo científico publicado en 2006

The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes

artículo científico publicado en 2007

The case for open science: rare diseases

artículo científico publicado en 2020

The health care and life sciences community profile for dataset descriptions

artículo científico publicado en 2016

The health care and life sciences community profile for dataset descriptions

The health care and life sciences community profile for dataset descriptions

The influence of disease categories on gene candidate predictions from model organism phenotypes

artículo científico publicado en 2014

The landscape of nutri-informatics: a review of current resources and challenges for integrative nutrition research

The teleost anatomy ontology: anatomical representation for the genomics age

artículo científico publicado en 2010

The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio

artículo científico

Thematic series on biomedical ontologies in JBMS: challenges and new directions

artículo científico publicado en 2014

Tools for exploring mouse models of human disease

artículo científico publicado en 2017

Transforming the study of organisms: Phenomic data models and knowledge bases

artículo científico publicado en 2020

Uberon, an integrative multi-species anatomy ontology

artículo científico publicado en 2012

Uberon: towards a comprehensive multi-species anatomy ontology

Uberon: towards a comprehensive multi-species anatomy ontology

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

artículo científico publicado en 2021

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon

artículo científico publicado en 2014

Unifying the Identification of Biomedical Entities with the Bioregistry ⬇️

preprint published on 10 July 2022

Unifying the identification of biomedical entities with the Bioregistry ⬇️

artículo científico publicado en 2022

Use of animal models for exome prioritization of rare disease genes

article

Use of model organism and disease databases to support matchmaking for human disease gene discovery

artículo científico publicado en 2015

What is an anatomy ontology?

artículo científico publicado en 2013

eagle-i: An Ontology-Driven Framework For Biomedical Resource Curation And Discovery

eagle-i: An Ontology-Driven Framework For Biomedical Resource Curation And Discovery

k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

artículo científico publicado en 2018

Uberon

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