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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Journal of human genetics, 2021-05, Vol.66 (5), p.491-498

2021

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Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Journal of human genetics, 2022-06, Vol.67 (6), p.363-368

2022

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.173-180

2013

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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

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KDM6A Point Mutations Cause Kabuki Syndrome

Human mutation, 2013-01, Vol.34 (1), p.108-110

2013

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Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

Scientific reports, 2021-06, Vol.11 (1), p.11933-11933, Article 11933

2021

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Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study

Experimental brain research, 2020-12, Vol.238 (12), p.2887-2895

2020

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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2587-2590

2016

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Growth pattern of Rahman syndrome

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.712-714

2018

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

PloS one, 2017-08, Vol.12 (8), p.e0181791-e0181791

2017

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Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1182-1186

2021

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Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Journal of medical genetics, 2023-04, Vol.60 (4), p.359

2023

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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

American journal of human genetics, 2019-04, Vol.104 (4), p.596-610

2019

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Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

Journal of human genetics, 2023-02, Vol.68 (2), p.87-90

2023

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Role of chimeric transcript formation in the pathogenesis of birth defects

Congenital anomalies, 2021-05, Vol.61 (3), p.76-81

2021

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Atypical Sotos syndrome caused by a novel splice site variant

Human genome variation, 2022-11, Vol.9 (1), p.41-41, Article 41

2022

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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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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Scientific reports, 2022-08, Vol.12 (1), p.14589-14589, Article 14589

2022

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Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.431-437

2018

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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

PloS one, 2013-03, Vol.8 (3), p.e60105-e60105

2013

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SATB2‐associated syndrome in patients from Japan: Linguistic profiles

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.896-899

2019

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Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

Brain & development (Tokyo. 1979), 2017-02, Vol.39 (2), p.145-153

2017

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Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

Cytogenetic and genome research, 2020-04, Vol.160 (3), p.118-123

2020

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

KDM6A Point Mutations Cause Kabuki Syndrome

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

Growth pattern of Rahman syndrome

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

Role of chimeric transcript formation in the pathogenesis of birth defects

Atypical Sotos syndrome caused by a novel splice site variant

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

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

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