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Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

Neuroscience and biobehavioral reviews, 2014-10, Vol.46 Pt 2, p.161-174

2014

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Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

American journal of human genetics, 2012-04, Vol.90 (4), p.579-590

2012

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X‐linked intellectual disability update 2017

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1375-1388

2018

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Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

PloS one, 2015-02, Vol.10 (2), p.e0116454-e0116454

2015

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Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression

Nature communications, 2020-06, Vol.11 (1), p.3243-16, Article 3243

2020

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Coding exons function as tissue-specific enhancers of nearby genes

Genome research, 2012-06, Vol.22 (6), p.1059

2012

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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Nature communications, 2017-11, Vol.8 (1), p.1257-15, Article 1257

2017

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Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

International journal of molecular sciences, 2023-07, Vol.24 (13), p.10712

2023

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The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome

Best Practice & Research Clinical Endocrinology & Metabolism, 2007-06, Vol.21 (2), p.307-321

2007

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MED12 related disorders

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2734-2740

2013

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Computational analysis of missense mutations causing Snyder-Robinson syndrome

Human mutation, 2010-09, Vol.31 (9), p.1043-1049

2010

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X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

American journal of human genetics, 2006-09, Vol.79 (3), p.493-499

2006

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Zebrafish knockout of Down syndrome gene, DYRK1A , shows social impairments relevant to autism

Molecular autism, 2017-09, Vol.8 (1), p.50-14, Article 50

2017

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687

2006

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64

2019

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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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PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

Disease models & mechanisms, 2023-04, Vol.16 (4)

2023

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Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1036-n/a

2020

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MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (48), p.19763-19768

2012

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

American journal of human genetics, 2005-07, Vol.77 (1), p.41-53

2005

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Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Human molecular genetics, 2012-11, Vol.21 (22), p.4930-4938

2012

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Nature genetics, 2007-04, Vol.39 (4), p.451-453

2007

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A role of the (pro)renin receptor in neuronal cell differentiation

American journal of physiology. Regulatory, integrative and comparative physiology, 2009-08, Vol.297 (2), p.R250-R257

2009

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

X‐linked intellectual disability update 2017

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression

Coding exons function as tissue-specific enhancers of nearby genes

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome

MED12 related disorders

Computational analysis of missense mutations causing Snyder-Robinson syndrome

X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

Zebrafish knockout of Down syndrome gene, DYRK1A , shows social impairments relevant to autism

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

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

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

A role of the (pro)renin receptor in neuronal cell differentiation

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