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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Birte Zurek
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36
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694
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13
h-index
15
i10-index
Birte Zurek is an academic researcher from University of Tübingen. The author has contributed to research in topics: Genomics and Rare Diseases & Immune Response and Inflammation & Genomic variations and chromosomal abnormalities. The author has an h-index of 13, co-authored 31 publications.
ORCID: 0000-0002-8200-7542Papers by this author
worksSolving the unsolved rare diseases in Europe
2021 · European Journal of Human Genetics · 33 citations
https://doi.org/10.1038/s41431-021-00924-8
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
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021 · European Journal of Human Genetics · 14 citations
https://doi.org/10.1038/s41431-021-00901-1
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
2023 · Human Genetics and Genomics Advances · 12 citations
https://doi.org/10.1016/j.xhgg.2023.100186
An interconnected data infrastructure to support large-scale rare disease research
2024 · GigaScience · 8 citations
https://doi.org/10.1093/gigascience/giae058
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