(Q57281359)

1

Melissa A. Haendel

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Peter Robinson

3

Peter N Robinson

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Peter Robinson

3

Peter N. Robinson

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Christopher G. Chute

2

Christopher G Chute

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Christopher G. Chute

2

The New England Journal of Medicine

Christopher G. Chute

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language of work or name

English

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publication date

11 October 2018

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published in

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volume

379

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issue

15

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page(s)

1452-1462

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cites work

Clinical data retrieval and analysis. I've seen a case like that before

1 reference

12 December 2020

Toward a medical-concept representation language. The Canon Group

1 reference

12 December 2020

Gálapagos: computer-based support for evolution of a convergent medical terminology

1 reference

12 December 2020

Clinical classification and terminology: some history and current observations

1 reference

12 December 2020

The Unified Medical Language System (UMLS): integrating biomedical terminology

1 reference

12 December 2020

A new case of hairy elbows syndrome (hypertrichosis cubiti).

1 reference

12 December 2020

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

1 reference

12 December 2020

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

1 reference

12 December 2020

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

1 reference

12 December 2020

Web-based, participant-driven studies yield novel genetic associations for common traits

1 reference

12 December 2020

Predictive accuracy of patient-reported exacerbation frequency in COPD.

1 reference

12 December 2020

Migrating existing clinical content from ICD-9 to SNOMED

1 reference

12 December 2020

Normalized names for clinical drugs: RxNorm at 6 years

1 reference

12 December 2020

Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience

1 reference

12 December 2020

Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms.

1 reference

12 December 2020

Building a robust, scalable and standards-driven infrastructure for secondary use of EHR data: the SHARPn project

1 reference

12 December 2020

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

1 reference

12 December 2020

The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data

1 reference

12 December 2020

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

12 December 2020

The ChEBI reference database and ontology for biologically relevant chemistry: enhancements for 2013

1 reference

12 December 2020

An ethics framework for a learning health care system: a departure from traditional research ethics and clinical ethics

1 reference

12 December 2020

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

1 reference

12 December 2020

eXtasy: variant prioritization by genomic data fusion.

1 reference

12 December 2020

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Normalization and standardization of electronic health records for high-throughput phenotyping: the SHARPn consortium

1 reference

12 December 2020

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular findings among patients referred for clinical whole-exome sequencing

1 reference

12 December 2020

Gene Ontology Consortium: going forward

1 reference

12 December 2020

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

1 reference

12 December 2020

Incorporating the patient's voice into electronic health records through patient-reported outcomes as the "review of systems".

1 reference

12 December 2020

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

1 reference

12 December 2020

Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mutations

1 reference

12 December 2020

1 reference

12 December 2020

Information extraction from multi-institutional radiology reports

1 reference

12 December 2020

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

1 reference

12 December 2020

The Reactome pathway Knowledgebase

1 reference

12 December 2020

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

1 reference

12 December 2020

1 reference

12 December 2020

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

1 reference

12 December 2020

Adherent Use of Digital Health Trackers Is Associated with Weight Loss

1 reference

12 December 2020

The Ontology for Biomedical Investigations

1 reference

12 December 2020

Natural language processing in pathology: a scoping review

1 reference

12 December 2020

Health Concept and Knowledge Management: Twenty-five Years of Evolution

1 reference

12 December 2020

Navigating the Phenotype Frontier: The Monarch Initiative

1 reference

12 December 2020

Animal-based studies will be essential for precision medicine.

1 reference

12 December 2020

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

1 reference

12 December 2020

The Human Phenotype Ontology in 2017

1 reference

12 December 2020

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

1 reference

12 December 2020

De-identified genomic data sharing: the research participant perspective

1 reference

12 December 2020

Emerging from EHR Purgatory - Moving from Process to Outcomes

1 reference

12 December 2020

The use of electronic health records for psychiatric phenotyping and genomics.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

1 reference

12 December 2020

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system

1 reference

12 December 2020

Editorial Commentary: Patient Reported Outcomes Measurement Information System (PROMIS) May Be Our Promise for the Future.

1 reference

12 December 2020

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

1 reference

12 December 2020

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

1 reference

12 December 2020

Plain-language medical vocabulary for precision diagnosis.

1 reference

12 December 2020