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Author Details

Marco Roos
Leiden University Medical Center
1999
53
19
Timothy Clark (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37107544Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design.Genes (Basel)2023
37107544Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design.Genes (Basel)2023
37501188Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction.Orphanet J Rare Dis2023
37501188Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction.Orphanet J Rare Dis2023
35091961Huntington Disease Gene Expression Signatures in Blood Compared to Brain of YAC128 Mice as Candidates for Monitoring of Pathology.Mol Neurobiol2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35647536FAIR Digital Twins for Data-Intensive Research.Front Big Data2022
35468846Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.J Biomed Semantics2022
36517834Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.Orphanet J Rare Dis2022
35292119Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.J Biomed Semantics2022
35091961Huntington Disease Gene Expression Signatures in Blood Compared to Brain of YAC128 Mice as Candidates for Monitoring of Pathology.Mol Neurobiol2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35647536FAIR Digital Twins for Data-Intensive Research.Front Big Data2022
35468846Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.J Biomed Semantics2022
36517834Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.Orphanet J Rare Dis2022
35292119Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.J Biomed Semantics2022
33452270A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.Sci Data2021
33965931Enabling FAIR Discovery of Rare Disease Digital Resources.Stud Health Technol Inform2021
33452270A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.Sci Data2021
34334415How Patient Organizations Can Drive FAIR Data Efforts to Facilitate Research and Health Care: A Report of the Virtual Second International Meeting on Duchenne Data Sharing, March 3, 2021.J Neuromuscul Dis2021
34454078De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.J Biomed Inform2021
34481493The de novo FAIRification process of a registry for vascular anomalies.Orphanet J Rare Dis2021
34481493The de novo FAIRification process of a registry for vascular anomalies.Orphanet J Rare Dis2021
34454078De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.J Biomed Inform2021
33965931Enabling FAIR Discovery of Rare Disease Digital Resources.Stud Health Technol Inform2021
34334415How Patient Organizations Can Drive FAIR Data Efforts to Facilitate Research and Health Care: A Report of the Virtual Second International Meeting on Duchenne Data Sharing, March 3, 2021.J Neuromuscul Dis2021
32578552Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).Stud Health Technol Inform2020
32578552Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).Stud Health Technol Inform2020
33426479The case for open science: rare diseases.JAMIA Open2020
33266138Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics.Genes (Basel)2020
33426479The case for open science: rare diseases.JAMIA Open2020
33266138Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics.Genes (Basel)2020
31000794Drug prioritization using the semantic properties of a knowledge graph.Sci Rep2019
31000794Drug prioritization using the semantic properties of a knowledge graph.Sci Rep2019
30890711Addendum: The FAIR Guiding Principles for scientific data management and stewardship.Sci Data2019
31548100Meeting on data sharing for Duchenne 21-22 March 2019 Amsterdam, the Netherlands.Neuromuscul Disord2019
31548100Meeting on data sharing for Duchenne 21-22 March 2019 Amsterdam, the Netherlands.Neuromuscul Disord2019
30890711Addendum: The FAIR Guiding Principles for scientific data management and stewardship.Sci Data2019
29704307MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.Hum Mutat2018
30248891Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.Int J Environ Res Public Health2018
30147075OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases.Stud Health Technol Inform2018
30081484Recommendations for Improving the Quality of Rare Disease Registries.Int J Environ Res Public Health2018
29396563The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.Eur J Hum Genet2018
29704307MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.Hum Mutat2018
30081484Recommendations for Improving the Quality of Rare Disease Registries.Int J Environ Res Public Health2018
30147075OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases.Stud Health Technol Inform2018
30248891Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.Int J Environ Res Public Health2018
29396563The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.Eur J Hum Genet2018
29214177Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.Biomed Res Int2017
29214571Preparing Data at the Source to Foster Interoperability across Rare Disease Resources.Adv Exp Med Biol2017
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Collaborators

Peter A C 't Hoen
Radboud University Medical Center
Co-authored papers 16
Rajaram Kaliyaperumal
Leiden University Medical Center
Co-authored papers 12
Barend Mons
Leiden University Medical Center
Co-authored papers 11
Mark Thompson
Leiden University Medical Center
Co-authored papers 10
Erik A Schultes
Leiden Institute for FAIR and Equitable Science
Co-authored papers 8
Carole Goble
University of Manchester
Co-authored papers 6
Mark D Wilkinson
Universidad Politecnica de Madrid (UPM)
Co-authored papers 6
Ronald Cornet
University of Amsterdam
Co-authored papers 6
Erik M van Mulligen
Erasmus University Medical Center
Co-authored papers 6
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 5
Jun Zhao
Oxford University
Co-authored papers 5
Katherine Wolstencroft
Leiden Institute of Advanced Computer Science, Leiden University
Co-authored papers 5
Zuotian Tatum
Leiden University Medical Center
Co-authored papers 4
Morris A Swertz
University of Groningen, University Medical Center Groningen
Co-authored papers 4
N??ria Queralt-Rosinach
Leiden University Medical Center
Co-authored papers 4
Chris T Evelo
Maastricht University
Co-authored papers 4
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 3
Michel Dumontier
Institute of Data Science, Maastricht University
Co-authored papers 3
Jeroen F J Laros
National Institute for Public Health and the Environment
Co-authored papers 3
Philippe Rocca-Serra
University of Oxford
Co-authored papers 3
Anthony J Brookes
University of Leicester
Co-authored papers 3
Luiz Bonino da Silva Santos
University of Twente
Co-authored papers 3
Susanna-Assunta Sansone
Oxford e-Research Centre, University of Oxford
Co-authored papers 3
Paul Groth
University of Amsterdam
Co-authored papers 3
Yaffa Rubinstein
National Institutes of Health (NIH)
Co-authored papers 3
Martijn J Schuemie
University of California los angeles
Co-authored papers 3
Rob Hooft van Huijsduijnen
Vrije Universiteit Amsterdam (VU)
Co-authored papers 3
Scott C Edmunds
BGI Hong Kong Tech Co Ltd.
Co-authored papers 3
Deborah Mascalzoni
Institute for Biomedicine (Affiliated Institute of the University of Lubeck)
Co-authored papers 3
Johan T den Dunnen
Leiden University Medical Center
Co-authored papers 3
Release 1.2