Marco Roos

ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 19

Top Venues

Orphanet journal of rare diseases

Genes

Scientific data

International journal of environmental research and public health

Leiden University Medical Center

Universiteit van Amsterdam (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Leiden University Medical Center Sep 01 2009

Netherlands

Assistant professor & group leader :: Human Genetics

Education History

Universiteit van Amsterdam

Netherlands

MSC

Publications

Judith Tommel, Daan Kenis, Nathalie Lambrechts, Richard M Brohet, Jordy Swysen, Lotte Mollen, Marie-José F Hoefmans, Murih Pusparum, Andrea W M Evers, Gokhan Ertaylan, Marco Roos, Kristien Hens, Elisa J F Houwink
Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design. Genes 14 (4) (2023)
Jasper Ouwerkerk, Stephanie Feleus, Kasper F van der Zwaan, Yunlei Li, Marco Roos, Willeke M C van Roon-Mom, Susanne T de Bot, Katherine J Wolstencroft, Eleni Mina
Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction. Orphanet journal of rare diseases 18 (1) (2023)
Judith Tommel, Daan Kenis, Nathalie Lambrechts, Richard M Brohet, Jordy Swysen, Lotte Mollen, Marie-José F Hoefmans, Murih Pusparum, Andrea W M Evers, Gokhan Ertaylan, Marco Roos, Kristien Hens, Elisa J F Houwink
Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design. Genes 14 (4) (2023)
Judith Tommel, Daan Kenis, Nathalie Lambrechts, Richard M Brohet, Jordy Swysen, Lotte Mollen, Marie-José F Hoefmans, Murih Pusparum, Andrea W M Evers, Gokhan Ertaylan, Marco Roos, Kristien Hens, Elisa J F Houwink
Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design. Genes 14 (4) (2023)
Judith Tommel, Daan Kenis, Nathalie Lambrechts, Richard M Brohet, Jordy Swysen, Lotte Mollen, Marie-José F Hoefmans, Murih Pusparum, Andrea W M Evers, Gokhan Ertaylan, Marco Roos, Kristien Hens, Elisa J F Houwink
Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design. Genes 14 (4) (2023)
Bruna Dos Santos Vieira, César H Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M A Le Cornec, Peter A C 't Hoen, Franz Schaefer, K Joeri van der Velde, Morris A Swertz, Mark D Wilkinson, Annika Jacobsen, Marco Roos
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries. Orphanet journal of rare diseases 17 (1) (2022)
Núria Queralt-Rosinach, Rajaram Kaliyaperumal, César H Bernabé, Qinqin Long, Simone A Joosten, Henk Jan van der Wijk, Erik L A Flikkenschild, Kees Burger, Annika Jacobsen, Barend Mons, Marco Roos, null null, null null
Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic. Journal of biomedical semantics 13 (1) (2022)
Bruna Dos Santos Vieira, César H Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M A Le Cornec, Peter A C 't Hoen, Franz Schaefer, K Joeri van der Velde, Morris A Swertz, Mark D Wilkinson, Annika Jacobsen, Marco Roos
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries. Orphanet journal of rare diseases 17 (1) (2022)
Bruna Dos Santos Vieira, César H Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M A Le Cornec, Peter A C 't Hoen, Franz Schaefer, K Joeri van der Velde, Morris A Swertz, Mark D Wilkinson, Annika Jacobsen, Marco Roos
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries. Orphanet journal of rare diseases 17 (1) (2022)
Bruna Dos Santos Vieira, César H Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M A Le Cornec, Peter A C 't Hoen, Franz Schaefer, K Joeri van der Velde, Morris A Swertz, Mark D Wilkinson, Annika Jacobsen, Marco Roos
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries. Orphanet journal of rare diseases 17 (1) (2022)
Bruna Dos Santos Vieira, César H Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M A Le Cornec, Peter A C 't Hoen, Franz Schaefer, K Joeri van der Velde, Morris A Swertz, Mark D Wilkinson, Annika Jacobsen, Marco Roos
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries. Orphanet journal of rare diseases 17 (1) (2022)
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F J Laros, Egon L Wilighagen, Alfonso Valencia, Marco Roos, Salvador Capella, Leopold M G Curfs, Chris T A Evelo
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. Scientific data 8 (1) (2021)
Karlijn H J Groenen, Annika Jacobsen, Martijn G Kersloot, Bruna Dos Santos Vieira, Esther J van Enckevort, Rajaram Kaliyaperumal, Derk L Arts, Peter A C 't Hoen, Ronald Cornet, Marco Roos, Leo Schultze Kool
The de novo FAIRification process of a registry for vascular anomalies. Orphanet journal of rare diseases 16 (1) (2021)
Rick Overkleeft, Judith Tommel, Andrea W M Evers, Johan T den Dunnen, Marco Roos, Marie-José Hoefmans, Walter E Schrader, Jesse Joachim Swen, Mattijs E Numans, Elisa J F Houwink
Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics. Genes 11 (12) (2020)
Tareq B Malas, Wytze J Vlietstra, Roman Kudrin, Sergey Starikov, Mohammed Charrout, Marco Roos, Dorien J M Peters, Jan A Kors, Rein Vos, Peter A C 't Hoen, Erik M van Mulligen, Kristina M Hettne
Drug prioritization using the semantic properties of a knowledge graph. Scientific reports 9 (1) (2019)
Gillian S Townend, Friederike Ehrhart, Henk J van Kranen, Mark D Wilkinson, Annika Jacobsen, Marco Roos, Egon L Willighagen, Esther J van Enckevort, Chris T A Evelo, Leopold M G Curfs
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. Human mutation 39 (7) (2018)
Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore, Domenica Taruscio
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues. International journal of environmental research and public health 15 (10) (2018)
Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke van der Horst, Pedro Lopes, Rajaram Kaliyaperumal, Mark Thompson, Rachel Thompson, Núria Queralt-Rosinach, Estrella Lopez, Libby Wood, Agata Robertson, Claudia Lamanna, Mette Gilling, Michael Orth, Roxana Merino-Martinez, Manuel Posada-de-la-Paz, Domenica Taruscio, Hanns Lochmüller, Peter Nick Robinson, Marco Roos, José Luís Oliveira
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. BioMed research international 2017 (2017)
Mark D Wilkinson, Michel Dumontier, I Jsbrand Jan Aalbersberg, Gabrielle Appleton, Myles Axton, Arie Baak, Niklas Blomberg, Jan-Willem Boiten, Luiz Bonino da Silva Santos, Philip E Bourne, Jildau Bouwman, Anthony J Brookes, Timothy W Clark, Mercѐ Crosas, Ingrid Dillo, Olivier Dumon, Scott C Edmunds, Chris T A Evelo, Richard Finkers, Alejandra N Gonzalez-Beltran, Alasdair J G Gray, Paul Groth, Carole Goble, Jeffery S Grethe, Zhisheng Huang, Peter A C 't Hoen, Rob W W Hooft, Tobias Kuhn, Ruben Kok, Joost Kok, Scott J Lusher, Maryann E Martone, Albert Mons, Abel L Packer, Bengt Persson, Philippe Rocca-Serra, Marco Roos, Rene van Schaik, Susanna-Assunta Sansone, Erik Schultes, Thierry Sengstag, Ted Slater, George Strawn, Morris A Swertz, Mark Thompson, Johan van der Lei, Erik M van Mulligen, Jan Velterop, Andra Waagmeester, Peter Wittenburg, Katherine J Wolstencroft, Jun Zhao, Barend Mons
The FAIR Guiding Principles for scientific data management and stewardship. Scientific data 3 (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Marco Roos