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The genetic landscape of intellectual disability arising from chromosome X

Trends in genetics, 2009-07, Vol.25 (7), p.308-316

2009

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Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

Frontiers in genetics, 2016-10, Vol.7, p.183-183

2016

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Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

Neurobiology of disease, 2021-06, Vol.153, p.105329, Article 105329

2021

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

PloS one, 2018-11, Vol.13 (11), p.e0206914-e0206914

2018

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

American journal of human genetics, 2012-10, Vol.91 (4), p.694-702

2012

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

Neurobiology of disease, 2017-09, Vol.105, p.245-256

2017

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Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.763-767

2017

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Heterozygous loss of function of IQSEC2 / Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Life science alliance, 2019-08, Vol.2 (4), p.e201900386

2019

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ARX spectrum disorders: making inroads into the molecular pathology

Human mutation, 2010-08, Vol.31 (8), p.889-900

2010

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Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

Small GTPases, 2010-09, Vol.1 (2), p.98-103

2010

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IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy

Human mutation, 2019-01, Vol.40 (1), p.5-24

2019

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A novel ARX loss of function variant in female monozygotic twins is associated with chorea

European journal of medical genetics, 2021-11, Vol.64 (11), p.104315-104315, Article 104315

2021

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Polyalanine tract disorders and neurocognitive phenotypes

Advances in experimental medicine and biology, 2012-01, Vol.769, p.185

2012

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Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene

Human molecular genetics, 2016-12, Vol.25 (24), p.5433-5443

2016

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IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Clinical genetics, 2022-07, Vol.102 (1), p.72-77

2022

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Early 17[beta]-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene

Neurobiology of disease, 2021-06, Vol.153

2021

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Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

Human molecular genetics, 2014-02, Vol.23 (4), p.1084-1094

2014

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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

Human molecular genetics, 2019-12, Vol.28 (24), p.4089-4102

2019

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An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

Human mutation, 2017-05, Vol.38 (5), p.548-555

2017

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Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

BMC genomics, 2017-01, Vol.18 (1), p.10-10, Article 10

2017

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Enhancement of intestinal growth and repair by growth factors

Current Opinion in Pharmacology, 2001-12, Vol.1 (6), p.568-574

2001

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The genetic landscape of intellectual disability arising from chromosome X

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

Heterozygous loss of function of IQSEC2 / Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

ARX spectrum disorders: making inroads into the molecular pathology

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy

A novel ARX loss of function variant in female monozygotic twins is associated with chorea

Polyalanine tract disorders and neurocognitive phenotypes

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene

IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

Early 17[beta]-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

Enhancement of intestinal growth and repair by growth factors

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