J. Yoshimura

Taro L. Saito, T. Matsukawa, S. Tsuji, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42

S. Tsuji, Yukihiro Nakamura, N. Matsumoto, 2019, Neurobiology of Disease.

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis

S. Tsuji, S. Morishita, N. Saito, 2020, Scientific Reports.

Long-read metagenomic exploration of extrachromosomal mobile genetic elements in the human gut

M. Hattori, S. Morishita, Suguru Nishijima, 2019, Microbiome.

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

S. Tsuji, S. Morishita, N. Saito, 2020, Journal of Medical Genetics.

Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator

T. Matsukawa, S. Morishita, H. Ishiura, 2022, Neurology and Clinical Neuroscience.

Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

I. Kanazawa, S. Tsuji, S. Morishita, 2013, Journal of the Neurological Sciences.

ATF6α/β-mediated adjustment of ER chaperone levels is essential for development of the notochord in medaka fish

Taro L. Saito, Y. Sakaki, A. Toyoda, 2013, Molecular biology of the cell.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Robert H. Brown, A. Fujiyama, A. Toyoda, 2013, American journal of human genetics.

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

S. Tsuji, S. Morishita, S. Kitanaka, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Exome sequencing shows a novel de novo mutation in ATL1

S. Tsuji, S. Morishita, H. Ishiura, 2014 .

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

T. Matsukawa, S. Tsuji, S. Morishita, 2020, neurogenetics.

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing

K. Kasai, S. Tsuji, Y. Kawakubo, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

Yuji Takahashi, Jun Goto, Shinichi Morishita, 2013, Bioinform..

siDirect 2.0: updated software for designing functional siRNA with reduced seed-dependent off-target effect

Shinichi Morishita, Jun Yoshimura, Yuki Naito, 2009, BMC Bioinformatics.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Shinichi Morishita, Yasuo Terao, Yuko Saito, 2019, Nature Genetics.

Landscape of CpG methylation of individual repetitive elements

Kazuki Ichikawa, Yuji Takahashi, Yuta Suzuki, 2015 .

Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency

Shinichi Morishita, Hiromi Nakamura, Yasushi Totoki, 2017, PLoS genetics.

Extremely slow rate of evolution in the HOX cluster revealed by comparison between Tanzanian and Indonesian coelacanths.

Taro L. Saito, S. Sugano, Yutaka Suzuki, 2012, Gene.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

S. Tsuji, S. Morishita, M. Yamaguchi, 2018, Brain : a journal of neurology.

Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation

Y. Sakakibara, T. Itoh, A. Toyoda, 2020, bioRxiv.

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation

S. Morishita, J. Mitsui, J. Yoshimura, 2020, Human mutation.

Centromere evolution and CpG methylation during vertebrate speciation

S. Morishita, H. Takeda, Ryohei Nakamura, 2017, Nature Communications.

Long-read metagenomic exploration of extrachromosomal mobile genetic elements in the human gut

M. Hattori, S. Morishita, Suguru Nishijima, 2019, Microbiome.

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia

T. Matsukawa, S. Tsuji, Toshihiro Hayashi, 2018, The Cerebellum.

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype

T. Matsukawa, S. Tsuji, S. Morishita, 2017, Journal of the Neurological Sciences.

Associations between nucleosome phasing, sequence asymmetry, and tissue-specific expression in a set of inbred Medaka species

S. Sugano, Yutaka Suzuki, A. Fire, 2015, BMC Genomics.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

T. Matsukawa, S. Tsuji, Jun Shinmi, 2019, Nature Genetics.

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations

S. Ishikawa, D. Komura, T. Matsukawa, 2022, Angiogenesis.

Atypical parkinsonism caused by Pro105Leu mutation of prion protein

T. Matsukawa, S. Tsuji, G. Oyama, 2016, Neurology: Genetics.

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing

S. Morishita, N. Saito, T. Ota, 2022, Scientific Reports.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy

N. Kenmochi, S. Tsuji, T. Uechi, 2016, Journal of Human Genetics.

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

S. Tsuji, J. Kira, S. Morishita, 2016, Annals of neurology.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

S. Tsuji, H. Onishi, S. Morishita, 2019, Parkinsonism & related disorders.

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines

H. Okano, S. Tsuji, R. Hashimoto, 2016, Molecular Brain.

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation

S. Tsuji, S. Morishita, Y. Ando, 2015, Neuropathology and applied neurobiology.

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

T. Matsukawa, S. Tsuji, S. Morishita, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis

A. Mammen, T. Lloyd, H. Ishiura, 2022, Annals of neurology.

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Sonja W. Scholz, A. Singleton, Y. Kusakabe, 2023, medRxiv.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.

Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

T. Matsukawa, S. Tsuji, S. Morishita, 2017, Journal of the Neurological Sciences.

28. UTGB Toolkit for Personalized Genome Browsers

Atsushi Sasaki, Shinichi Morishita, Taro L. Saito, 2012 .

Genome analysis

Atsushi Sasaki, Shinichi Morishita, Taro L. Saito, 2008 .

AgIn: measuring the landscape of CpG methylation of individual repetitive elements

S. Turner, J. Korlach, S. Tsuji, 2016, Bioinform..

Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance

S. Tsuji, S. Morishita, H. Ishiura, 2016 .

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines

H. Okano, S. Tsuji, R. Hashimoto, 2016, Molecular Brain.

UTGB toolkit for personalized genome browsers

Taro L. Saito, Budrul Ahsan, J. Yoshimura, 2009, Bioinform..

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

S. Sugano, Yutaka Suzuki, A. Fujiyama, 2018, Nature Genetics.

Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1

S. Tsuji, S. Morishita, H. Ishiura, 2019, Neurology and Clinical Neuroscience.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.