Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

(2012) P. B. S. Celestino-Soper et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Metabolomic analysis reveals that carnitines are key regulatory metabolites in phase transition of the locusts

(2012) R. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

(2011) Patricia B.S. Celestino-Soper et al.   HUMAN MOLECULAR GENETICS

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Widespread Regulation of miRNA Biogenesis at the Dicer Step by the Cold-Inducible RNA-Binding Protein, RBM3

(2011) Julie Pilotte et al.   PLoS One

The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood

(2010) Paul Lichtenstein et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation

(2010) Jihui Qiu et al.   CELL RESEARCH

PHF8 is a histone H3K9me2 demethylase regulating rRNA synthesis

(2010) Ziqi Zhu et al.   CELL RESEARCH

Metabolism of acetyl-l-carnitine for energy and neurotransmitter synthesis in the immature rat brain

(2010) Susanna Scafidi et al.   JOURNAL OF NEUROCHEMISTRY

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum

(2010) D. D'Arca et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

Autism-associated familial microdeletion of Xp11.22

(2009) Y Qiao et al.   CLINICAL GENETICS

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Genetics of autistic disorders: review and clinical implications

(2009) Christine M. Freitag et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Acylcarnitines: Role in brain

(2009) Lauren L. Jones et al.   PROGRESS IN LIPID RESEARCH

Serotonin Mediates Behavioral Gregarization Underlying Swarm Formation in Desert Locusts

(2009) M. L. Anstey et al.   SCIENCE

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Teneurin-1 is expressed in interconnected regions of the developing brain and is processed in vivo

(2008) Daniela Kenzelmann et al.   BMC DEVELOPMENTAL BIOLOGY

The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein

(2008) Xudong Zhao et al.   NATURE CELL BIOLOGY