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BMC Research Notes|February 21, 2025
BED-Craft for nanopore adaptive sampling: a tool for generating bed files with gene names as input data for enrichment sequencingFuyuki Miya, Kenjiro KosakiBMC Genomics|February 10, 2025
Gene-based Hardy-Weinberg equilibrium test using genotype count data: application to six types of cancersJo Nishino, Fuyuki Miya, Mamoru KatoAmerican Journal of Medical Genetics. Part A|May 14, 2022
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defectMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.Plos One|April 16, 2015
Attenuation of progressive hearing loss in DBA/2J mice by reagents that affect epigenetic modifications is associated with up-regulation of the zinc importer Zip4Hideki Mutai, Fuyuki Miya, Masato Fujii, et al.Journal of Human Genetics|November 1, 2020
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disordersKohji Kato, Fuyuki Miya, Yasuyoshi Oka, et al.Journal of Human Genetics|August 15, 2024
Japanese Public Health Insurance System's new genomic strategic action to shorten the "diagnostic odyssey" for patients with rare and intractable diseasesJiro Ezaki, Yukari Takahashi, Harutaka Saijo, et al.Nature Communications|January 26, 2020
Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in miceKoji M Nishiguchi, Kosuke Fujita, Fuyuki Miya, et al.Iscience|May 30, 2023
Topologically associating domain underlies tissue specific expression of long intergenic non-coding RNAsYu Hamba, Takashi Kamatani, Fuyuki Miya, et al.Brain & Development|August 5, 2023
Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathyKentaro Sano, Fuyuki Miya, Mitsuhiro Kato, et al.Human Molecular Genetics|November 15, 2007
Recombination rates of genes expressed in human tissuesMamoru Kato, Fuyuki Miya, Yonehiro Kanemura, et al.Pageof 11