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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Journal of human genetics, 2011-01, Vol.56 (1), p.34-40

2011

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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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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.838-846

2021

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Journal of human genetics, 2017-06, Vol.62 (6), p.653-655

2017

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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

PLoS genetics, 2020-02, Vol.16 (2), p.e1008628-e1008628

2020

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A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor

Journal of human genetics, 2023-01, Vol.68 (1), p.51-54

2023

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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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Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Journal of human genetics, 2019-05, Vol.64 (5), p.499-504

2019

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Biallelic GALM pathogenic variants cause a novel type of galactosemia

Genetics in medicine, 2019-06, Vol.21 (6), p.1286-1294

2019

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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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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

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

2019

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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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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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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Human molecular genetics, 2012-04, Vol.21 (7), p.1496-1503

2012

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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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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.553-558

2012

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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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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

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

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor

De novo GABRA1 mutations in Ohtahara and West syndromes

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Hypoketotic hypoglycemia in citrin deficiency: a case report

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

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

Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis

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

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

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

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

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

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