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1.
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2022/07
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論文
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Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator Neurology and Clinical Neuroscience 10(4),pp.210-217 （共著）
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2.
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2021/03
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論文
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Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population Journal of Human Genetics 66(3),pp.237-241 （共著）
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3.
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2021/03
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論文
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Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis Neurogenetics 22(1),pp.11-17 （共著）
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4.
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2020/07
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論文
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Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis Scientific reports 10 （共著）
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5.
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2019/09
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論文
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Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1 Neurology and Clinical Neuroscience 7(5),294-296頁 （共著）
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6.
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2019/08
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論文
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature Genetics 51(8),pp.1222-1232 （共著）
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7.
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2019/05
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論文
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Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. Journal of Neurology, Neurosurgery, and Psychiatry 90(5) （共著）
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8.
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2019/04
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論文
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Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. Parkinsonism and Related Disorders 61,pp.57-63 （共著）
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9.
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2018/06
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論文
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Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain 141(6),pp.1622-1636 （共著）
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10.
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2018/04
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論文
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nature Genetics 50(4),pp.581-590 （共著）
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11.
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2018/04
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論文
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Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 64,pp.158.e15-158.e19 （共著）
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12.
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2018/04
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論文
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Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia Cerebellum 17(2),pp.237-242 （共著）
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13.
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2018/01
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論文
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Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation Neurobiology of Aging 61,pp.255.e9-255.e16 （共著）
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14.
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2017/11
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論文
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Centromere evolution and CpG methylation during vertebrate speciation Nature Communications 8(1) （共著）
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15.
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2017/10
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論文
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Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 174(7),pp.712-723 （共著）
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16.
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2017/07
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論文
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Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease Neurology and Clinical Neuroscience 5(4),pp.124-126 （共著）
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17.
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2017/04
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論文
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Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype Journal of the Neurological Sciences 375,pp.424-429 （共著）
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18.
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2017/04
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論文
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TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy Journal of Human Genetics 62(4),pp.473-480 （共著）
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19.
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2017/01
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論文
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Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing Journal of the Neurological Sciences 372,pp.6-10 （共著）
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20.
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2016/10
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論文
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Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines Molecular Brain 9(1),pp.88 （共著）
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21.
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2016/09
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論文
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Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance Neurology and Clinical Neuroscience 4(5),pp.189-191 （共著）
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22.
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2016/06
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論文
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Human genetic variation database, a reference database of genetic variations in the Japanese population Jounal of Human Genetics 61(6),pp.547-553 （共著）
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23.
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2016/05
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論文
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Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults Nature Genetics 48(5),pp.569-574 （共著）
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24.
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2016/04
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論文
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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2 Annals of Neurology 79(4),pp.659-672 （共著）
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25.
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2016/02
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論文
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Atypical parkinsonism caused by Pro105Leu mutation of prion protein : A broad clinical spectrum Neurology Genetics 2(1),pp.e48 （共著）
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26.
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2015/07
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論文
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A novel mutation in ELOVL4 leading to Spinocerebellar Ataxia (SCA) with the hot cross bun sign but lacking Erythrokeratodermia: A broadened spectrum of SCA34 JAMA Neurology 72(7),pp.797-805 （共著）
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27.
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2014/04
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論文
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A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 Journal of Bone and Mineral Research 29(4),pp.992-998 （共著）
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28.
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2014/03
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論文
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Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing Bioinformatics 30(6),pp.815-822 （共著）
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29.
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2014/01
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論文
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Exome sequencing shows a novel de novo mutation in ATL1 Neurology and Clinical Neuroscience 2(1),pp.1-4 （共著）
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30.
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2013/11
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論文
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ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 The American Journal of Human Genetics 93(5),pp.900-905 （共著）
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31.
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2013/08
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論文
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Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 Journal of the Neurological Sciences 331(1-2),pp.158-160 （共著）
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32.
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2012/12
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論文
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Efficient mining of closed tree patterns from large tree databases with subtree constraint International Journal on Artificial Intelligence Tools 21(6),pp.1250026-1-26 （共著）
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33.
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2011/12
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論文
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Semantics of a graphical model for representing hypotheses and a system supporting the management of hypotheses The 5th International Conference on Knowledge, Information and Creativity Support Systems (KICSS2010), Revised Selected Papers pp.32-43 （共著）
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34.
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2010/12
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論文
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Mining with privacy preserving for distributed databases ICDM Workshops 2010 pp.483-490 （共著）
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35.
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2009/10
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論文
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Discovering the structures of open source programs from their developer mailing lists the 11th International Conference on Discovery Science (DS2009) pp.227-241 （共著）
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36.
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2009/03
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論文
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Kernel functions based on derivations New Frontiers in Applied Data Mining pp.111-122 （共著）
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37.
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2008/12
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論文
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The genome of a lepidopteran model insect, the silkworm Bombyx mori Insect Biochemistry and Molecular Biology （共著）
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38.
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2008/10
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論文
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Finding frequent patterns from compressed tree-structured data the 11th International Conference on Discovery Science (DS 2008) pp.284-295 （共著）
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39.
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2008/03
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論文
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内包カーネル関数 人工知能学会論文誌 23(3),185-192頁 （共著）
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40.
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2008/01
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論文
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UTGB/medaka: genomic resource database for medaka biology Nucleic Acids Research 36,pp.D747-D752 （共著）
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41.
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2007/10
|
論文
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An intentional kernel for RNA classification the 10th International Conference on Discovery Science (DS 2007) pp.281-285 （共著）
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42.
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2007/07
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論文
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An efficient algorithm for computing kernel function defined with anti-unification the 16th International Conference of Inductive Logic Programming, Revised Seleted Papers pp.139-153 （共著）
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43.
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2007/06
|
論文
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The medaka draft genome and insights into vertebrate genome evolution Nature 447,pp.714-719 （共著）
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44.
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2006/07
|
著書
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バイオインフォマティクス事典 （共著）
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45.
|
2003/09
|
論文
|
Minimum recombinant haplotype configuration on tree pedigrees 3rd Workshop on Algorithms in Bioinformatics (WABI 2003) pp.339-353 （共著）
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46.
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2000/12
|
論文
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Sequencing by hybridization in the presence of hybridization errors Genome Informatics 2000 （共著）
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47.
|
1999/12
|
論文
|
A greedy algorithm for minimizing the number of primers in multiple PCR experiments Genome Informatics 1999 pp.73-82 （共著）
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48.
|
1997/12
|
論文
|
Greedy algorithms for finding a small set of primers satisfying cover and length resolution conditions in PCR experiments Genome Informatics 1997 pp.43-52 （共著）
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5件表示
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全件表示(48件)
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