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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.847-855

2012

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X-linked mental retardation

Nature reviews. Genetics, 2005-01, Vol.6 (1), p.46-57

2005

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631

2015

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American journal of human genetics, 2011-09, Vol.89 (3), p.407-414

2011

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Genetics of recessive cognitive disorders

Trends in genetics, 2014-01, Vol.30 (1), p.32-39

2014

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

American journal of human genetics, 2007-11, Vol.81 (5), p.1057-1069

2007

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

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Genetics of intellectual disability

Current opinion in genetics & development, 2008-06, Vol.18 (3), p.241-250

Ropers, H Hilger

2008

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Mapping translocation breakpoints by next-generation sequencing

Genome Research, 2008-07, Vol.18 (7), p.1143-1149

2008

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BOD1 Is Required for Cognitive Function in Humans and Drosophila

PLoS genetics, 2016-05, Vol.12 (5), p.e1006022-e1006022

2016

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Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

Human molecular genetics, 2005-08, Vol.14 (15), p.2247-2256

2005

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Gene Expression Changes in the Course of Neural Progenitor Cell Differentiation

The Journal of neuroscience, 2004-06, Vol.24 (26), p.5982-6002

2004

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CGHPRO -- a comprehensive data analysis tool for array CGH

BMC bioinformatics, 2005-04, Vol.6 (1), p.85-85, Article 85

2005

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Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence

Intelligence (Norwood), 2015-03, Vol.49, p.10-22

2015

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders

European journal of medical genetics, 2015-12, Vol.58 (12), p.715-718

2015

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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Nature genetics, 1997-11, Vol.17 (3), p.285-291

1997

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Comparative study of methyl-CpG-binding domain proteins

BMC genomics, 2003-01, Vol.4 (1), p.1-1, Article 1

2003

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Positional cloning of the gene for X-linked retinitis pigmentosa 2

Nature genetics, 1998-08, Vol.19 (4), p.327-332

1998

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Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

Human mutation, 2014-12, Vol.35 (12), p.1427-1435

2014

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Genome medicine, 2013-02, Vol.5 (2), p.11-11, Article 11

2013

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Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis

Cell and tissue research, 2003-02, Vol.311 (2), p.227-237

2003

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Human mutation, 2007-07, Vol.28 (7), p.674-682

2007

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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

European journal of human genetics : EJHG, 2007-03, Vol.15 (3), p.375-378

2007

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

X-linked mental retardation

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Genetics of recessive cognitive disorders

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Genetics of intellectual disability

Mapping translocation breakpoints by next-generation sequencing

BOD1 Is Required for Cognitive Function in Humans and Drosophila

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

Gene Expression Changes in the Course of Neural Progenitor Cell Differentiation

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

CGHPRO -- a comprehensive data analysis tool for array CGH

Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Comparative study of methyl-CpG-binding domain proteins

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

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