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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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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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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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A case of 49,XXXYY followed-up from infancy to adulthood with review of literature

Endocrine Journal, 2024, Vol.71(7), pp.721-727

2024

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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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Enhanced post-ischemic angiogenesis in mice lacking RNF213 ; a susceptibility gene for moyamoya disease

Brain research, 2015-01, Vol.1594, p.310-320

2015

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Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report

Clinical Pediatric Endocrinology, 2024, Vol.33(3), pp.181-186

2024

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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 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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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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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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De novo GABRA1 mutations in Ohtahara and West syndromes

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

2016

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The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

International journal of neonatal screening, 2021-10, Vol.7 (4), p.68

2021

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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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Reply to: Avoid valproate in patients with IARS2 mutations

Brain & development (Tokyo. 1979), 2019-01, Vol.41 (1), p.122-122

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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A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.303-307

2021

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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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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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A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100970-100970, Article 100970

2023

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Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases

Clinical Pediatric Endocrinology, 2024, pp.2024-0039

2024

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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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Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Clinical immunology communications, 2024-06, Vol.5, p.34-40

2024

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Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

Journal of human genetics, 2023-06, Vol.68 (6), p.399-408

2023

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

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

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

A case of 49,XXXYY followed-up from infancy to adulthood with review of literature

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

Enhanced post-ischemic angiogenesis in mice lacking RNF213 ; a susceptibility gene for moyamoya disease

Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

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

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

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

De novo GABRA1 mutations in Ohtahara and West syndromes

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Reply to: Avoid valproate in patients with IARS2 mutations

Hypoketotic hypoglycemia in citrin deficiency: a case report

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

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

A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases

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

Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

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