Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 · European Journal of Human Genetics · 116 citations
https://doi.org/10.1038/s41431-022-01113-x
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Holm Graeßner
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Holm Graeßner is an academic researcher from Universitätsklinikum Tübingen. The author has contributed to research in topics: Genomics and Rare Diseases & Genetic Neurodegenerative Diseases & Cancer Genomics and Diagnostics. The author has an h-index of 24, co-authored 102 publications.
ORCID: 0000-0001-9803-7183Papers 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
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
2018 · European Journal of Human Genetics · 72 citations
https://doi.org/10.1038/s41431-018-0115-5
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
2024 · Nature Genetics · 36 citations
https://doi.org/10.1038/s41588-024-01836-1
Solving the unsolved rare diseases in Europe
2021 · European Journal of Human Genetics · 33 citations
https://doi.org/10.1038/s41431-021-00924-8
Development of a patient journey map for people living with cervical dystonia
2022 · Orphanet Journal of Rare Diseases · 33 citations
https://doi.org/10.1186/s13023-022-02270-4
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