Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Joeri Van Der Velde"'
Autor:
Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAccurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic
Externí odkaz:
https://doaj.org/article/76942faa247e4c1ba731534148725544
Autor:
Kapushesky Misha, Antonakaki Despoina, Abeygunawardena Niran, Joeri van der Velde K, Kurbatova Natalja, Burdett Tony, Adamusiak Tomasz, Parkinson Helen, Swertz Morris A
Publikováno v:
BMC Bioinformatics, Vol 12, Iss 1, p 218 (2011)
Abstract Background Ontologies have become an essential asset in the bioinformatics toolbox and a number of ontology access resources are now available, for example, the EBI Ontology Lookup Service (OLS) and the NCBO BioPortal. However, these resourc
Externí odkaz:
https://doaj.org/article/a64fec7cf5a74a71ba4ca848866f3647
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Introduction Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans a
Externí odkaz:
https://doaj.org/article/1ce9c2ed683d4a8f8591c39c561ebed6
Autor:
K. Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, XiaoFeng Liao, Sander de Ridder, Susanne Rebers, Hindrik H. D. Kerstens, Fernanda de Andrade, Jeroen van Reeuwijk, Fini E. De Gruyter, Saskia Hiltemann, Maarten Ligtvoet, Marjan M. Weiss, Hanneke W. M. van Deutekom, Anne M. L. Jansen, Andrew P. Stubbs, Lisenka E. L. M. Vissers, Jeroen F. J. Laros, Esther van Enckevort, Daphne Stemkens, Peter A. C. ‘t Hoen, Jeroen A. M. Beliën, Mariëlle E. van Gijn, Morris A. Swertz
Publikováno v:
Scientific Data, Vol 9, Iss 1, Pp 1-13 (2022)
Abstract The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are captured in different ways and stored across many systems and
Externí odkaz:
https://doaj.org/article/211fcca7dc174d6ebd564f8d9a33709b
Autor:
Zhenhua Zhang, Freerk van Dijk, Niek de Klein, Mariëlle E van Gijn, Lude H Franke, Richard J Sinke, Morris A Swertz, K Joeri van der Velde
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severi
Externí odkaz:
https://doaj.org/article/046bc28e1cc24a58a64d6f222d461d04
Autor:
Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Rec
Externí odkaz:
https://doaj.org/article/ad56929e4cb34a12b260f4de521ce77c
Autor:
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio
Externí odkaz:
https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae
Autor:
Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora
Externí odkaz:
https://doaj.org/article/e18003ef630a4ee7bf1ad4c5c1d66084
Autor:
Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A Swertz, Peter A.C. 't Hoen, Anna Niehues
Research data is accumulating rapidly, and with it the challenge of irreproducible science. As a consequence, implementation of high quality management of scientific data has become a global priority. The FAIR (Findable, Accesible, Interoperable and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2ad40cc4832ab88c242ad93763744c
Autor:
Bruna dos Santos Vieira, Inês Henriques, César Henriques Bernabé, Shuxin Zhang, Alberto Cámara Ballesteros, Jose Antonio Ramírez García, Joeri van der Velde, Nirupama Benis, Peter 't Hoen, Marco Roos, Annika Jacobsen, Ronald Cornet, Mark Wilkinson, Franz Schaefer, Morris Swertz
The EJP RD stewards' team was established in July 2020 to support European Reference Networks (ERNs) in creating Findable, Accessible, Interoperable and Reusable (FAIR) patient registries. To track the evolving registry FAIR implementations, the stew
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4fd3a0a1a66dc67b04f4b7446b7d45