基本信息
views: 134

Bio
As a creative bioinformatician with training in molecular biology and pharmaceutical sciences, I excel in the translation of biomedical problems into computational solutions in the area of personalized medicine. I have a strong track record in methodology and technology development, both in the laboratory and at the computer. My analytical skills allow me to quickly trace hidden treasures and potential flaws in proposed solutions to complex problems. Members of my team appreciate my constructive criticism, dedication, ambition and care for science and my attention for their personal lives and capacity development. To see PhD students and postdocs grow to independence is among the most rewarding aspects of my current work.
I am dedicated to the advancement of personalized medicine approaches for rare diseases by integrative use of -omics and clinical data. I am the coordinator of the European SIMPATHIC project aiming for acceleration of drug repurposing for rare neurological, neurometabolic and neuromuscular disorders. I am leading the Radboudumc program on neuromuscular disorders and has myotonic dystrophy as disease focus. Since data from rare disease patient is scarce and fragmented, I dedicate a significant amount of time in making data Findable, Accessible, Interoperable and Reusable and on developing infrastructure for the federated analysis of personal data such as advocated by the Personal Health Train initiative. To this end, I am directing the data analysis, integration and stewardship pillar within the Netherlands X-omics initiative; I am actively contributing to other data infrastructures such as HealthyData (workpackage leader “unlocking” data), HealthRI (national; tactical lead for the Nijmegen region), and international infrastructures such as European Rare Diseases Research Alliance (ERDERA), EURO-NMD registry, EATRIS and ELIXIR. I am FAIR and Open Science ambassador in Radboud university medical center and member of the steeringboard of the Dutch regieorgaan OpenScience.NL.
I am dedicated to the advancement of personalized medicine approaches for rare diseases by integrative use of -omics and clinical data. I am the coordinator of the European SIMPATHIC project aiming for acceleration of drug repurposing for rare neurological, neurometabolic and neuromuscular disorders. I am leading the Radboudumc program on neuromuscular disorders and has myotonic dystrophy as disease focus. Since data from rare disease patient is scarce and fragmented, I dedicate a significant amount of time in making data Findable, Accessible, Interoperable and Reusable and on developing infrastructure for the federated analysis of personal data such as advocated by the Personal Health Train initiative. To this end, I am directing the data analysis, integration and stewardship pillar within the Netherlands X-omics initiative; I am actively contributing to other data infrastructures such as HealthyData (workpackage leader “unlocking” data), HealthRI (national; tactical lead for the Nijmegen region), and international infrastructures such as European Rare Diseases Research Alliance (ERDERA), EURO-NMD registry, EATRIS and ELIXIR. I am FAIR and Open Science ambassador in Radboud university medical center and member of the steeringboard of the Dutch regieorgaan OpenScience.NL.
Research Interests
Papers共 263 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
MOLECULAR THERAPY METHODS & CLINICAL DEVELOPMENTno. 1 (2025)
Clara D M van Karnebeek, Annelieke R Müller, Laura Benkemoun, Ibrahim Boussaad,Martina C Cornel, Joanna IntHout,Martin de Kort, Sofia de Oliveira Martins, Alessandro Prigione,Tessel Rigter, Kit C B Roes, Anna Sanchez, Raymond Schipper, Mark D Wilkinson,Peter A C 't Hoen
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-10
Frontiers in Medicine (2024)
Frontiers in Molecular Biosciences (2024)
Scientific Reportsno. 1 (2024)
Antonio Atalaia,Dagmar Wandrei, Nawel Lalout,Rachel Thompson,Adrian Tassoni,Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou,Georgios Paliouras, Carla D’Angelo,Rita Horvath,Michelangelo Mancuso,Nadine van der Beek,Cornelia Kornblum,Janbernd Kirschner,Davide Pareyson,Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy,Jean-Philippe Plançon,Jana Haberlova,Esther Brusse,Janneke G. J. Hoeijmakers,Marianne de Visser,Kristl G. Claeys,Carmen Paradas,Antonio Toscano,Vincenzo Silani, Melinda Gyenge,Evy Reviers,Dalil Hamroun, Elisabeth Vroom,Mark D. Wilkinson,Hanns Lochmuller,Teresinha Evangelista
Orphanet Journal of Rare Diseasesno. 1 (2024)
Merel Stemerdink,Tabea Riepe, Nick Zomer,Renee Salz,Michael Kwint,Raoul Timmermans,Barbara Ferrari,Stefano Ferrari,Alfredo Dueñas Rey, Emma Delanote,Suzanne E. de Bruijn,Hannie Kremer,Susanne Roosing,Frauke Coppieters,Alexander Hoischen,Frans P. M. Cremers,Peter A.C. ’t Hoen,Erwin van Wijk,Erik de Vrieze
biorxiv(2024)
Casper Visser,Anna Niehues,Lukas Najdekr,Reka Toth,Petr V. Nazarov,Jana Vrbkova,Jarmila Stankova,Sara Ekberg, Elisa Conde Moreno,Bishwa Ghimire,Bhagwan Yadav,Pirkko Mattila,Maija Puhka,Val F. Lanza,Jolein Gloerich,Purva Kulkarni,Hans Wessels, Udo Engelke, Emanulea Oldoni, Toni Andreu,Gary Saunders,Arnaud Muller, Michaela Bendova, Zuzana Rozankova,Petr Dzubak,Josef Srovnal,Petr Pavlis, Bronislav Siska,Andreas Scherer,Maria Laura Garcia Bermejo,Jessica Nordlund, Alain Gool,Marian Hajduch,Peter A.C. 't Hoen
biorxiv(2024)
Load More
Author Statistics
#Papers: 267
#Citation: 34563
H-Index: 61
G-Index: 185
Sociability: 8
Diversity: 3
Activity: 24
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn