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49 results for Misawa,+Kazuharu

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ArticlesPeer ReviewedFull Text
Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics
Author / Creator:Misawa, Kazuharu
Publisher:United States: John Wiley & Sons, Inc
Journal title:Genetics & genomics next, 2022-09, Vol.3 (3), p.2100066-n/a
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A simple method for estimating time-irreversible nucleotide substitution rates in the SARS-CoV-2 genome
Author / Creator:Misawa, Kazuharu ; Ootsuki, Ryo
Publisher:England: Oxford University Press
Journal title:NAR genomics and bioinformatics, 2024-03, Vol.6 (1), p.lqae009
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A codon substitution model that incorporates the effect of the GC contents, the gene density and the density of CpG islands of human chromosomes
Author / Creator:Misawa, Kazuharu
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2011-08, Vol.12 (1), p.397-397, Article 397
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Hypouricemia and Urate Transporters
Author / Creator:Otani, Naoyuki ; Ouchi, Motoshi ; Misawa, Kazuharu ; Hisatome, Ichiro ; Anzai, Naohiko
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2022-03, Vol.10 (3), p.652
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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
Author / Creator:Sakamoto, Masamune ; Shiiki, Toshihide ; Matsui, Shuji ; Okamoto, Nobuhiko ; Koshimizu, Eriko ; Tsuchida, Naomi ; Uchiyama, Yuri ; Hamanaka, Kohei ; Fujita, Atsushi ; Miyatake, Satoko ; Misawa, Kazuharu ; Mizuguchi, Takeshi ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-04, Vol.68 (4), p.247-253
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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism
Author / Creator:Seyama, Rie ; Uchiyama, Yuri ; Kaneshi, Yosuke ; Hamanaka, Kohei ; Fujita, Atsushi ; Tsuchida, Naomi ; Koshimizu, Eriko ; Misawa, Kazuharu ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Makino, Shintaro ; Itakura, Atsuo ; Okamoto, Nobuhiko ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-05, Vol.68 (5), p.363-367
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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Author / Creator:Fukuda, Hiromi ; Mizuguchi, Takeshi ; Doi, Hiroshi ; Kameyama, Shinichi ; Kunii, Misako ; Joki, Hideto ; Takahashi, Tatsuya ; Komiya, Hiroyasu ; Sasaki, Mei ; Miyaji, Yosuke ; Ohori, Sachiko ; Koshimizu, Eriko ; Uchiyama, Yuri ; Tsuchida, Naomi ; Fujita, Atsushi ; Hamanaka, Kohei ; Misawa, Kazuharu ; Miyatake, Satoko ; Tanaka, Fumiaki ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-10, Vol.68 (10), p.689-697
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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Author / Creator:Utsuno, Yasuhiro ; Hamada, Keisuke ; Hamanaka, Kohei ; Miyoshi, Keita ; Tsuchimoto, Keiji ; Sunada, Satoshi ; Itai, Toshiyuki ; Sakamoto, Masamune ; Tsuchida, Naomi ; Uchiyama, Yuri ; Koshimizu, Eriko ; Fujita, Atsushi ; Miyatake, Satoko ; Misawa, Kazuharu ; Mizuguchi, Takeshi ; Kato, Yasuhito ; Saito, Kuniaki ; Ogata, Kazuhiro ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2024-02, Vol.69 (2), p.69-77
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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Author / Creator:Koshimizu, Eriko ; Kato, Mitsuhiro ; Misawa, Kazuharu ; Uchiyama, Yuri ; Tsuchida, Naomi ; Hamanaka, Kohei ; Fujita, Atsushi ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2024-04, Vol.69 (3-4), p.153-157
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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Author / Creator:Sakamoto, Masamune ; Kurosawa, Kenji ; Tanoue, Koji ; Iwama, Kazuhiro ; Ishida, Fumihiko ; Watanabe, Yoshihiro ; Okamoto, Nobuhiko ; Tsuchida, Naomi ; Uchiyama, Yuri ; Koshimizu, Eriko ; Fujita, Atsushi ; Misawa, Kazuharu ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2024-02, Vol.69 (2), p.85-90
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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
Author / Creator:Mizuguchi, Takeshi ; Toyota, Tomoko ; Koshimizu, Eriko ; Kameyama, Shinichi ; Fukuda, Hiromi ; Tsuchida, Naomi ; Uchiyama, Yuri ; Hamanaka, Kohei ; Fujita, Atsushi ; Misawa, Kazuharu ; Miyatake, Satoko ; Adachi, Hiroaki ; Matsumoto, Naomichi
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2023-12, Vol.68 (12), p.875-878
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A novel NONO variant that causes developmental delay and cardiac phenotypes
Author / Creator:Itai, Toshiyuki ; Sugie, Atsushi ; Nitta, Yohei ; Maki, Ryuto ; Suzuki, Takashi ; Shinkai, Yoichi ; Watanabe, Yoshihiro ; Nakano, Yusuke ; Ichikawa, Kazushi ; Okamoto, Nobuhiko ; Utsuno, Yasuhiro ; Koshimizu, Eriko ; Fujita, Atsushi ; Hamanaka, Kohei ; Uchiyama, Yuri ; Tsuchida, Naomi ; Miyake, Noriko ; Misawa, Kazuharu ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Matsumoto, Naomichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-01, Vol.13 (1), p.975-975, Article 975
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Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Author / Creator:Miyatake, Satoko ; Koshimizu, Eriko ; Fujita, Atsushi ; Doi, Hiroshi ; Okubo, Masaki ; Wada, Taishi ; Hamanaka, Kohei ; Ueda, Naohisa ; Kishida, Hitaru ; Minase, Gaku ; Matsuno, Atsuhiro ; Kodaira, Minori ; Ogata, Katsuhisa ; Kato, Rumiko ; Sugiyama, Atsuhiko ; Sasaki, Ayako ; Miyama, Takabumi ; Satoh, Mai ; Uchiyama, Yuri ; Tsuchida, Naomi ; Hamanoue, Haruka ; Misawa, Kazuharu ; Hayasaka, Kiyoshi ; Sekijima, Yoshiki ; Adachi, Hiroaki ; Yoshida, Kunihiro ; Tanaka, Fumiaki ; Mizuguchi, Takeshi ; Matsumoto, Naomichi
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2022-10, Vol.7 (1), p.62-62, Article 62
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A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
Author / Creator:Seyama, Rie ; Nishikawa, Masashi ; Uchiyama, Yuri ; Hamada, Keisuke ; Yamamoto, Yuka ; Takeda, Masahiro ; Ochi, Takanori ; Kishi, Monami ; Suzuki, Toshifumi ; Hamanaka, Kohei ; Fujita, Atsushi ; Tsuchida, Naomi ; Koshimizu, Eriko ; Misawa, Kazuharu ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Makino, Shintaro ; Yao, Takashi ; Ito, Hidenori ; Itakura, Atsuo ; Ogata, Kazuhiro ; Nagata, Koh-ichi ; Matsumoto, Naomichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-06, Vol.13 (1), p.9789-9789, Article 9789
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Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
Author / Creator:Sakamoto, Masamune ; Shiiki, Toshihide ; Matsui, Shuji ; Okamoto, Nobuhiko ; Koshimizu, Eriko ; Tsuchida, Naomi ; Uchiyama, Yuri ; Hamanaka, Kohei ; Fujita, Atsushi ; Miyatake, Satoko ; Misawa, Kazuharu ; Mizuguchi, Takeshi ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-04, Vol.68 (4), p.299-299
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Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes
Author / Creator:Itai, Toshiyuki ; Sugie, Atsushi ; Nitta, Yohei ; Maki, Ryuto ; Suzuki, Takashi ; Shinkai, Yoichi ; Watanabe, Yoshihiro ; Nakano, Yusuke ; Ichikawa, Kazushi ; Okamoto, Nobuhiko ; Utsuno, Yasuhiro ; Koshimizu, Eriko ; Fujita, Atsushi ; Hamanaka, Kohei ; Uchiyama, Yuri ; Tsuchida, Naomi ; Miyake, Noriko ; Misawa, Kazuharu ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Matsumoto, Naomichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-03, Vol.13 (1), p.3954-3954, Article 3954
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Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature
Author / Creator:Mizuguchi, Takeshi ; Okamoto, Nobuhiko ; Hara, Taiki ; Nishimura, Naoto ; Sakamoto, Masamune ; Fu, Li ; Uchiyama, Yuri ; Tsuchida, Naomi ; Hamanaka, Kohei ; Koshimizu, Eriko ; Fujita, Atsushi ; Misawa, Kazuharu ; Nakabayashi, Kazuhiko ; Miyatake, Satoko ; Matsumoto, Naomichi
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2025-02, Vol.17 (1), p.27-16, Article 27
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ArticlesPeer ReviewedFull Text
AP-SKAT: highly-efficient genome-wide rare variant association test
Author / Creator:Hasegawa, Takanori ; Kojima, Kaname ; Kawai, Yosuke ; Misawa, Kazuharu ; Mimori, Takahiro ; Nagasaki, Masao
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2016-09, Vol.17 (1), p.745-745, Article 745
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Antiemetic effects of baclofen in a shrew model of postoperative nausea and vomiting: Whole‐transcriptome analysis in the nucleus of the solitary tract
Author / Creator:Konno, Daisuke ; Sugino, Shigekazu ; Shibata, Tomoko F ; Misawa, Kazuharu ; Imamura‐Kawasawa, Yuka ; Suzuki, Jun ; Kido, Kanta ; Nagasaki, Masao ; Yamauchi, Masanori
Publisher:England: John Wiley & Sons, Inc
Journal title:CNS neuroscience & therapeutics, 2022-06, Vol.28 (6), p.922-931
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Cyanobacterial contribution to the genomes of the plastid-lacking protists
Author / Creator:Maruyama, Shinichiro ; Matsuzaki, Motomichi ; Misawa, Kazuharu ; Nozaki, Hisayoshi
Publisher:England: BioMed Central Ltd
Journal title:BMC evolutionary biology, 2009-08, Vol.9 (1), p.197-197
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Showing 1 to 20 of 49 results

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Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics

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A simple method for estimating time-irreversible nucleotide substitution rates in the SARS-CoV-2 genome

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A codon substitution model that incorporates the effect of the GC contents, the gene density and the density of CpG islands of human chromosomes

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Hypouricemia and Urate Transporters

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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias

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Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders

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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling

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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation

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A novel NONO variant that causes developmental delay and cardiac phenotypes

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Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

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A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

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Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

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Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes

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Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature

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AP-SKAT: highly-efficient genome-wide rare variant association test

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Antiemetic effects of baclofen in a shrew model of postoperative nausea and vomiting: Whole‐transcriptome analysis in the nucleus of the solitary tract

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Cyanobacterial contribution to the genomes of the plastid-lacking protists

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