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A nationwide survey of Schaaf-Yang syndrome in Japan

Journal of human genetics, 2022-12, Vol.67 (12), p.735-738

2022

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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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Lacosamide for children with paroxysmal kinesigenic dyskinesia

Brain & development (Tokyo. 1979), 2020-09, Vol.42 (8), p.617-620

2020

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Identification of chromatin marks at TERRA promoter and encoding region

Biochemical and biophysical research communications, 2015-11, Vol.467 (4), p.1052-1057

2015

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Immune Regulation in Time and Space: The Role of Local- and Long-Range Genomic Interactions in Regulating Immune Responses

Frontiers in immunology, 2021-05, Vol.12, p.662565-662565

2021

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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.277-277, Article 277

2019

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Batf2/Irf1 induces inflammatory responses in classically activated macrophages, lipopolysaccharides, and mycobacterial infection

The Journal of immunology (1950), 2015-06, Vol.194 (12), p.6035-6044

2015

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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Scientific reports, 2017-06, Vol.7 (1), p.3552-11, Article 3552

2017

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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

PloS one, 2020-08, Vol.15 (8), p.e0237814

2020

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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

Brain & development (Tokyo. 1979), 2018-09, Vol.40 (8), p.678-684

2018

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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

Journal of human genetics, 2017-09, Vol.62 (9), p.861-863

2017

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SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation

Brain & development (Tokyo. 1979), 2021-08, Vol.43 (7), p.804-808

2021

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A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Journal of human genetics, 2018-09, Vol.63 (9), p.957-963

2018

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Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

Journal of human genetics, 2014-07, Vol.59 (7), p.405-407

2014

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Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant

Clinical Pediatric Endocrinology, 2022, Vol.31(1), pp.44-49

2022

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Chestnut goby, Gymnogobius castaneus (O’Shaughnessy 1875), as a suitable host of Anemina arcaeformis (Heude 1877) in floodplain water bodies, Hokkaido, Northern Japan

Limnology, 2018-08, Vol.19 (3), p.343-354

2018

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Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability

Journal of neurochemistry, 2017-01, Vol.140 (1), p.82-95

2017

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Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

Brain & development (Tokyo. 1979), 2018-02, Vol.40 (2), p.134-139

2018

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A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

Brain & development (Tokyo. 1979), 2018-03, Vol.40 (3), p.222-225

2018

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A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

Brain & development (Tokyo. 1979), 2018-06, Vol.40 (6), p.489-492

2018

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Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients

HGG advances, 2024-10, Vol.5 (4), p.100342, Article 100342

2024

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Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1863-1867

2016

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Pinpointing Cell Identity in Time and Space

Frontiers in molecular biosciences, 2020-08, Vol.7, p.209-209

2020

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A novel CUL4B splice site variant in a young male exhibiting less pronounced features

Human genome variation, 2019-09, Vol.6 (1), p.43-43, Article 43

2019

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A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

Human genome variation, 2019-03, Vol.6 (1), p.15, Article 15

2019

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A nationwide survey of Schaaf-Yang syndrome in Japan

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

Lacosamide for children with paroxysmal kinesigenic dyskinesia

Identification of chromatin marks at TERRA promoter and encoding region

Immune Regulation in Time and Space: The Role of Local- and Long-Range Genomic Interactions in Regulating Immune Responses

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Batf2/Irf1 induces inflammatory responses in classically activated macrophages, lipopolysaccharides, and mycobacterial infection

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant

Chestnut goby, Gymnogobius castaneus (O’Shaughnessy 1875), as a suitable host of Anemina arcaeformis (Heude 1877) in floodplain water bodies, Hokkaido, Northern Japan

Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome

Pinpointing Cell Identity in Time and Space

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

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