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

[1]  D. Pinto,et al.  SHANK1 Deletions in Males with Autism Spectrum Disorder. , 2012, American journal of human genetics.

[2]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[3]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[4]  Bekim Sadikovic,et al.  A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism , 2012, Proceedings of the National Academy of Sciences.

[5]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[6]  Zeming Wu,et al.  Metabolomic analysis reveals that carnitines are key regulatory metabolites in phase transition of the locusts , 2012, Proceedings of the National Academy of Sciences.

[7]  Elodie Ey,et al.  Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders , 2012, PLoS genetics.

[8]  P. Vanderklish,et al.  Widespread Regulation of miRNA Biogenesis at the Dicer Step by the Cold-Inducible RNA-Binding Protein, RBM3 , 2011, PloS one.

[9]  Stephan J Sanders,et al.  Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. , 2011, Human molecular genetics.

[10]  C. Lajonchere,et al.  Genetic heritability and shared environmental factors among twin pairs with autism. , 2011, Archives of general psychiatry.

[11]  S. Bryson,et al.  Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study , 2011, Pediatrics.

[12]  J L Rapoport,et al.  Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia , 2011, Molecular Psychiatry.

[13]  M. Burrows,et al.  Epigenetic remodelling of brain, body and behaviour during phase change in locusts , 2011, Neural systems & circuits.

[14]  Kathryn Roeder,et al.  Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.

[15]  D. Rossignol,et al.  Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis , 2011, Molecular Psychiatry.

[16]  C. Gillberg,et al.  The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. , 2010, The American journal of psychiatry.

[17]  G. Fiskum,et al.  Metabolism of acetyl‐l‐carnitine for energy and neurotransmitter synthesis in the immature rat brain , 2010, Journal of neurochemistry.

[18]  Gary D Bader,et al.  Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.

[19]  J. Wong,et al.  The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation , 2010, Cell Research.

[20]  Xiang Wang,et al.  PHF8 is a histone H3K9me2 demethylase regulating rRNA synthesis , 2010, Cell Research.

[21]  M. King,et al.  Genetic Heterogeneity in Human Disease , 2010, Cell.

[22]  A. Iavarone,et al.  Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum , 2010, Proceedings of the National Academy of Sciences.

[23]  Wouter Staal,et al.  Genetics of autistic disorders: review and clinical implications , 2009, European Child & Adolescent Psychiatry.

[24]  R. Delorme,et al.  Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders , 2009, Biological Psychiatry.

[25]  John A. Sweeney,et al.  Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes , 2009, PLoS genetics.

[26]  Andrew Menzies,et al.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation , 2009, Nature Genetics.

[27]  Thomas Bourgeron,et al.  A synaptic trek to autism , 2009, Current Opinion in Neurobiology.

[28]  Stephen J. Simpson,et al.  Serotonin Mediates Behavioral Gregarization Underlying Swarm Formation in Desert Locusts , 2009, Science.

[29]  J. Maguire,et al.  Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.

[30]  E. Rajcan-Separovic,et al.  Autism‐associated familial microdeletion of Xp11.22 , 2008, Clinical genetics.

[31]  A. Iavarone,et al.  The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein , 2008, Nature Cell Biology.

[32]  R. Tucker,et al.  Teneurin-1 is expressed in interconnected regions of the developing brain and is processed in vivo , 2008, BMC Developmental Biology.

[33]  Peter Marynen,et al.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. , 2008, American journal of human genetics.

[34]  A. Koivisto,et al.  Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate , 2007, Clinical genetics.

[35]  M. Miano,et al.  A novel mutation in the PHF8 gene is associated with X‐linked mental retardation with cleft lip/cleft palate , 2007, Clinical genetics.

[36]  M. D'urso,et al.  Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. , 2007, Gene.

[37]  Runsheng Chen,et al.  Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein complex represses human cell cycle-dependent genes in quiescence. , 2007, Molecular cell.

[38]  C. Yau,et al.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data , 2007, Nucleic acids research.

[39]  C. Disteche,et al.  High expression of the mammalian X chromosome in brain , 2006, Brain Research.

[40]  Christopher Gillberg,et al.  Brief Report: “The Autism Epidemic”. The Registered Prevalence of Autism in a Swedish Urban Area , 2006, Journal of autism and developmental disorders.

[41]  C. Schwartz,et al.  Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate , 2005, Journal of Medical Genetics.

[42]  M. D'urso,et al.  Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting , 2005, Journal of cellular physiology.

[43]  F. L. Raymond X linked mental retardation: a clinical guide , 2005, Journal of Medical Genetics.

[44]  P. Filipek,et al.  Relative Carnitine Deficiency in Autism , 2004, Journal of autism and developmental disorders.

[45]  R. Cecchelli,et al.  Carnitine: transport and physiological functions in the brain. , 2004, Molecular aspects of medicine.

[46]  A. Virmani,et al.  Role of carnitine esters in brain neuropathology. , 2004, Molecular aspects of medicine.

[47]  Tonya Clark-Taylor,et al.  Is autism a disorder of fatty acid metabolism? Possible dysfunction of mitochondrial beta-oxidation by long chain acyl-CoA dehydrogenase. , 2004, Medical hypotheses.

[48]  Thomas Bourgeron,et al.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.

[49]  A. Krainer,et al.  Listening to silence and understanding nonsense: exonic mutations that affect splicing , 2002, Nature Reviews Genetics.

[50]  Lauren L. Jones,et al.  Acylcarnitines: role in brain. , 2010, Progress in lipid research.

[51]  K. Nałęcz,et al.  Carnitine--a known compound, a novel function in neural cells. , 1996, Acta neurobiologiae experimentalis.

[52]  A. Bach [Carnitine biosynthesis in mammals]. , 1982, Reproduction, nutrition, developpement.