Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · European Journal of Human Genetics · 101 citations
https://doi.org/10.1038/s41431-021-00859-0
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Steven Laurie
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Steven Laurie is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Genomics and Phylogenetic Studies. The author has an h-index of 19, co-authored 83 publications.
ORCID: 0000-0003-3913-5829Papers by this author
worksSolve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · European Journal of Human Genetics · 101 citations
https://doi.org/10.1038/s41431-021-00859-0
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2025 · Nature Genetics · 28 citations
https://doi.org/10.1038/s41588-025-02184-4
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
2023 · Human Genomics · 26 citations
https://doi.org/10.1186/s40246-023-00485-5
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
2023 · European Journal of Human Genetics · 18 citations
https://doi.org/10.1038/s41431-023-01478-7
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
2024 · Nature Communications · 15 citations
https://doi.org/10.1038/s41467-024-45099-0
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