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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

American journal of human genetics, 2024-01, Vol.111 (1), p.119-132

2024

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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Genetics in medicine, 2023-07, Vol.25 (7), p.100838, Article 100838

2023

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American journal of human genetics, 2019-04, Vol.104 (4), p.758-766

2019

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113

2018

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

American journal of human genetics, 2018-01, Vol.102 (1), p.196-196

2018

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Expanding the neurodevelopmental phenotype of PURA syndrome

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.56-67

2018

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

American journal of human genetics, 2017-11, Vol.101 (5), p.824-832

2017

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

American journal of human genetics, 2017-11, Vol.101 (5), p.716-724

2017

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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

PLoS genetics, 2017-10, Vol.13 (10), p.e1006864-e1006864

2017

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

American journal of human genetics, 2017-09, Vol.101 (3), p.466-477

2017

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719

2016

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Nature neuroscience, 2016-09, Vol.19 (9), p.1194-1196

2016

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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Human molecular genetics, 2016-03, Vol.25 (5), p.892-902

2016

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

American journal of human genetics, 2016-02, Vol.98 (2), p.373-381

2016

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

American journal of human genetics, 2015-08, Vol.97 (2), p.343-352

2015

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051-3062

2015

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Chromosomal aberrations in cerebral visual impairment

European journal of paediatric neurology, 2014-11, Vol.18 (6), p.677-684

2014

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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Expanding the neurodevelopmental phenotype of PURA syndrome

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Chromosomal aberrations in cerebral visual impairment

Refining analyses of copy number variation identifies specific genes associated with developmental delay

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