Concepedia
Statistics
Publications
22
Citations
2.2K
H-Index
19
Active since
2015
Affiliations
Radboud University Medical Center(Current)
Radboud University Nijmegen
Radboud Institute for Molecular Life Sciences
Maastricht University Medical Centre
University Medical Center Groningen
Stefan H. Lelieveld is an author at Radboud University Medical Center specializing in medicine, genetics, and bioinformatics.
Top concepts
MedicineGeneticsBioinformaticsNeurogeneticsDevelopmental BiologyMolecular DiagnosticsGenomicsPathologyNeurosciencePublic Health
Publications per year
2015–2024
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 633 citations · Full text
Mendelian Disorder, Medicine, Genetic Epidemiology +9
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions
Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos et al. · Human Mutation · 2015 · 227 citations · Full text
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 159 citations · Full text
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt et al. · European Journal of Human Genetics · 2017 · 149 citations · Full text
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 143 citations · Full text
Bioinformatics, Engineering, Gene Panel +13
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