Zobrazeno 1 - 10
of 80
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:
Rajaram Kaliyaperumal, Mark D. Wilkinson, Pablo Alarcón Moreno, Nirupama Benis, Ronald Cornet, Bruna dos Santos Vieira, Michel Dumontier, César Henrique Bernabé, Annika Jacobsen, Clémence M. A. Le Cornec, Mario Prieto Godoy, Núria Queralt-Rosinach, Leo J. Schultze Kool, Morris A. Swertz, Philip van Damme, K. Joeri van der Velde, Nawel Lalout, Shuxin Zhang, Marco Roos
Publikováno v:
Journal of Biomedical Semantics, Vol 13, Iss 1, Pp 1-16 (2022)
Abstract Background The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establis
Externí odkaz:
https://doaj.org/article/84e197640c5e48eabf86fcfdadcdebfc
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:
Franciscus C. Vermeer, Jeroen Bremer, Robert J. Sietsma, Aileen Sandilands, Robyn P. Hickerson, Marieke C. Bolling, Anna M.G. Pasmooij, Henny H. Lemmink, Morris A. Swertz, Nine V.A.M. Knoers, K. Joeri van der Velde, Peter C. van den Akker
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 22, p 12222 (2021)
Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to
Externí odkaz:
https://doaj.org/article/1311e30c58c5407bb9cef31de25b8743
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
Autor:
Xiaofeng Liao, Anna Niehues, Casper de Visser, Junda Huang, Cenna Doornbos, Thomas H.A. Ederveen, Purva Kulkarni, K. Joeri van der Velde, Morris A. Swertz, Martin Brandt, Alain J. van Gool, Peter A.C. ’t Hoen
MotivationWe are witnessing an enormous growth in the amount of molecular profiling (-omics) data. The integration of multi-omics data is challenging. Moreover, human multi-omics data may be privacy-sensitive and misused to de-anonymize and (re-)iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee5e8041a99da0070a1a4e1dbb5432e1
https://doi.org/10.1101/2023.04.23.23289000
https://doi.org/10.1101/2023.04.23.23289000