The complete sequence of a human genome
2022 · Science · 3,193 citations
https://doi.org/10.1126/science.abj6987
D
Danny E. Miller
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Danny E. Miller is an academic researcher from University of Washington. The author has contributed to research in topics: Genomics and Rare Diseases & Chromosomal and Genetic Variations & Genomics and Phylogenetic Studies. The author has an h-index of 31, co-authored 136 publications.
ORCID: 0000-0001-6096-8601Papers by this author
worksExome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
2021 · Genetics in Medicine · 585 citations
https://doi.org/10.1038/s41436-021-01242-6
Highly contiguous assemblies of 101 drosophilid genomes
2021 · eLife · 216 citations
https://doi.org/10.7554/elife.66405
Applications of long-read sequencing to Mendelian genetics
2023 · Genome Medicine · 87 citations
https://doi.org/10.1186/s13073-023-01194-3
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
2021 · JAMA Neurology · 78 citations
https://doi.org/10.1001/jamaneurol.2021.2598
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
2024 · The Journal of Experimental Medicine · 32 citations
https://doi.org/10.1084/jem.20232005
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