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Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Nature communications, 2021-01, Vol.12 (1), p.226-226, Article 226

2021

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

The Journal of pediatrics, 2016-04, Vol.171, p.171-177.e4

2016

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Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

Brain & development (Tokyo. 1979), 2021-05, Vol.43 (5), p.652-656

2021

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De novo GABRA1 mutations in Ohtahara and West syndromes

Epilepsia (Copenhagen), 2016-04, Vol.57 (4), p.566-573

2016

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Hypoketotic hypoglycemia in citrin deficiency: a case report

BMC pediatrics, 2020-09, Vol.20 (1), p.444-444, Article 444

2020

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Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2

The Tohoku Journal of Experimental Medicine, 2022, Vol.256(4), pp.321-326

2022

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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Annals of neurology, 2019-06, Vol.85 (6), p.927-933

2019

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Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis

Pediatrics international, 2019-02, Vol.61 (2), p.190-192

2019

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Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome

Brain & development (Tokyo. 1979), 2018-11, Vol.40 (10), p.934-938

2018

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Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report

The Tohoku Journal of Experimental Medicine, 2024, pp.2024.J004

2024

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Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord

Brain & development (Tokyo. 1979), 2016-10, Vol.38 (9), p.819-826

2016

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Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study

Journal of clinical immunology, 2017-01, Vol.37 (1), p.67-79

2017

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Patchy white matter hyperintensity in ring chromosome 18 syndrome

Pediatrics international, 2016-09, Vol.58 (9), p.919-922

2016

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Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests

The Tohoku Journal of Experimental Medicine, 2016, Vol.240(4), pp.323-328

2016

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Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

Brain & development (Tokyo. 1979), 2016-09, Vol.38 (8), p.763-767

2016

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Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus

Brain & development (Tokyo. 1979), 2016-09, Vol.38 (8), p.772-776

2016

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Efficacy of long term weekly ACTH therapy for intractable epilepsy

Brain & development (Tokyo. 1979), 2015-04, Vol.37 (4), p.449-454

2015

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Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake

Brain & development (Tokyo. 1979), 2014-02, Vol.36 (2), p.143-147

2014

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Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

Brain & development (Tokyo. 1979), 2017-04, Vol.39 (4), p.337-340

2017

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Rapid and sensitive intraoperative detection of mutations in the isocitrate dehydrogenase 1 and 2 genes during surgery for glioma

Journal of neurosurgery, 2014-06, Vol.120 (6), p.1288

2014

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A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Brain & development (Tokyo. 1979), 2016-02, Vol.38 (2), p.257-260

2016

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Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

Brain & development (Tokyo. 1979), 2015-03, Vol.37 (3), p.362-365

2015

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Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

The Tohoku Journal of Experimental Medicine, 2014, Vol.233(4), pp.275-281

2014

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RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Brain & development (Tokyo. 1979), 2014-06, Vol.36 (6), p.532-536

2014

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Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

De novo GABRA1 mutations in Ohtahara and West syndromes

Hypoketotic hypoglycemia in citrin deficiency: a case report

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome

Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord

Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study

Patchy white matter hyperintensity in ring chromosome 18 syndrome

Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus

Efficacy of long term weekly ACTH therapy for intractable epilepsy

Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

Rapid and sensitive intraoperative detection of mutations in the isocitrate dehydrogenase 1 and 2 genes during surgery for glioma

A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

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