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List of works by Tudor Groza

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

scientific article published on 25 August 2016

A review of argumentation for the Social Semantic Web ⬇️

scientific article (publication date: 2013)

A supervised approach to quantifying sentence similarity: with application to evidence based medicine

scientific article

Assessing the impact of case sensitivity and term information gain on biomedical concept recognition

scientific article

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

scientific article

BioHackathon 2015: Semantics of data for life sciences and reproducible research

scientific article published on 24 February 2020

Bridging the Gap between Linked Data and the Semantic Desktop

Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records

scientific article published in 2018

CORAAL—Dive into publications, bathe in the knowledge

Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors

scientific article published on 01 December 2018

Capturing domain knowledge from multiple sources: the rare bone disorders use case

scientific article published on 17 April 2015

CogStack - Experiences Of Deploying Integrated Information Retrieval And Extraction Services In A Large National Health Service Foundation Trust Hospital

article

CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.

scientific article

Concept selection for phenotypes and diseases using learn to rank

scientific article published on June 2015

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain

scientific article

Decomposing Phenotype Descriptions for the Human Skeletal Phenome ⬇️

scientific article published on 04 February 2013

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

Experiences with Modeling Composite Phenotypes in the SKELETOME Project

scientific article published at ISWC 2012

From raw publications to Linked Data

Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes

scientific article

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

scientific article

Harmonising phenomics information for a better interoperability in the rare disease field

scientific article published on 6 February 2018

How many rare diseases are there?

scientific article published on 01 February 2020

Identifying scientific artefacts in biomedical literature: the Evidence Based Medicine use case.

scientific article published on 14 February 2014

Impacts of genomics on the health and social costs of intellectual disability

scientific article published on 24 January 2020

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

scientific article published in January 2017

Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain

scientific article

Initiating an undiagnosed diseases program in the Western Australian public health system

scientific article

KonneXSALT: First Steps Towards a Semantic Claim Federation Infrastructure

Linking Semantic Desktop Data to the Web of Data

article by Laura Drăgan et al published 2011 in Lecture Notes in Computer Science

Matchmaker Exchange

scientific article

Mining skeletal phenotype descriptions from scientific literature

scientific article

Modelling expertise at different levels of granularity using semantic similarity measures in the context of collaborative knowledge-curation platforms

scientific article

Navigating the Phenotype Frontier: The Monarch Initiative

scientific article

Navigating the phenotype frontier: The Monarch Initiative

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

scientific article

Phenotyping: targeting genotype's rich cousin for diagnosis

scientific article published on 11 August 2014

Plain-language medical vocabulary for precision diagnosis

scientific article published in April 2018

Reasoning on Crowd-Sourced Semantic Annotations to Facilitate Cataloguing of 3D Artefacts in the Cultural Heritage Domain

scientific article published at ISWC 2013

Recognizing Scientific Artifacts in Biomedical Literature ⬇️

scientific article published on April 2, 2013

SALT: Weaving the Claim Web

Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain

scientific article published at ISWC 2012

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain

scientific article published on 05 February 2014

Special issue on bio-ontologies and phenotypes

scientific article

State of the art and open challenges in community-driven knowledge curation

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods ⬇️

scientific article published on October 15, 2012

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

scientific article published on 26 March 2012

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

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

scientific article

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

scientific article published on 01 January 2020

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

scientific article

The digital revolution in phenotyping

scientific article published on 29 September 2015

Thematic issue of the Second combined Bio-ontologies and Phenotypes Workshop

scientific article published on 12 December 2016

Toward knowledge support for analysis and interpretation of complex traits

scientific article (publication date: 2013)

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

scientific article

Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain

scientific article published at ISWC 2011

Using silver and semi-gold standard corpora to compare open named entity recognisers

scholarly article published December 2013

Using typed dependencies to study and recognise conceptualisation zones in biomedical literature

scientific article

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