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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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KDM6A Point Mutations Cause Kabuki Syndrome

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

2013

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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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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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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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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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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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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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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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Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

European journal of medical genetics, 2018-05, Vol.61 (5), p.243-247

2018

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Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas

Npj genomic medicine, 2021-06, Vol.6 (1), p.49-49, Article 49

2021

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Mowat-Wilson syndrome: growth charts

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-12, Article 151

2020

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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1221-1237

2013

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Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1083-1094

2012

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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1899-1908

2014

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MBTPS2 mutation causes BRESEK/BRESHECK syndrome

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.97-102

2012

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Journal of human genetics, 2016-04, Vol.61 (4), p.335-343

2016

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Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.908-917

2016

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Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Clinical epigenetics, 2017-05, Vol.9 (1), p.52-52, Article 52

2017

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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

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

KDM6A Point Mutations Cause Kabuki Syndrome

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

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

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

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

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

Atypical Sotos syndrome caused by a novel splice site variant

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

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

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas

Mowat-Wilson syndrome: growth charts

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

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