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
D
Daniel Natera‐de Benito
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Daniel Natera‐de Benito is an academic researcher from University of Minnesota. The author has contributed to research in topics: Muscle Physiology and Disorders & Neurogenetic and Muscular Disorders Research & Genomics and Rare Diseases. The author has an h-index of 22, co-authored 159 publications.
ORCID: 0000-0001-7764-2085Papers by this author
worksNusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study
2022 · European Journal of Neurology · 63 citations
https://doi.org/10.1111/ene.15501
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
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy
2024 · Neurology and Therapy · 20 citations
https://doi.org/10.1007/s40120-023-00570-w
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
Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variant
2023 · Journal of Medical Genetics · 11 citations
https://doi.org/10.1136/jmg-2022-109132
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