Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
2022 · npj Genomic Medicine · 75 citations
https://doi.org/10.1038/s41525-022-00331-y
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Kazuharu Misawa
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Kazuharu Misawa is an academic researcher. The author has contributed to research in topics: Genomics and Phylogenetic Studies & RNA and protein synthesis mechanisms & Genomics and Rare Diseases. The author has an h-index of 18, co-authored 70 publications.
ORCID: 0000-0002-6277-4330Papers by this author
worksA multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis
2020 · Communications Biology · 66 citations
https://doi.org/10.1038/s42003-020-01251-2
dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project
2021 · Human Genome Variation · 20 citations
https://doi.org/10.1038/s41439-021-00175-5
Origins of a cyanobacterial 6-phosphogluconate dehydrogenase in plastid-lacking eukaryotes
2008 · BMC Evolutionary Biology · 17 citations
https://doi.org/10.1186/1471-2148-8-151
Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing
2019 · Human Genome Variation · 14 citations
https://doi.org/10.1038/s41439-019-0057-7
Complete nanopore repeat sequencing of SCA27B (GAA-<i>FGF14</i>ataxia) in Japanese
2024 · Journal of Neurology Neurosurgery & Psychiatry · 13 citations
https://doi.org/10.1136/jnnp-2024-333541
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