Identifying autism loci and genes by tracing recent shared ancestry.
paper
Cited
Public
- Authors
- Morrow, Eric M; Yoo, Seung-Yun; Flavell, Steven W; Kim, Tae-Kyung; Lin, Yingxi; Hill, Robert Sean; Mukaddes, Nahit M; Balkhy, Soher; Gascon, Generoso; Hashmi, Asif; Al-Saad, Samira; Ware, Janice; Joseph, Robert M; Greenblatt, Rachel; Gleason, Danielle; Ertelt, Julia A; Apse, Kira A; Bodell, Adria; Partlow, Jennifer N; Barry, Brenda; Yao, Hui; Markianos, Kyriacos; Ferland, Russell J; Greenberg, Michael E; Walsh, Christopher A
- Year
- 2008
- Journal
- Science (New York, N.Y.)
- PMID
- 18621663
- DOI
- 10.1126/science.1157657
- PMCID
- PMC2586171
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.
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| No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. | Ruderfer DM et al. | — | 2015 | → |
| Oxytocin: parallel processing in the social brain? | Dölen G | — | 2015 | → |
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| Protocadherin-9 involvement in retinal development in Xenopus laevis. | Izuta Y et al. | — | 2015 | → |
| Protocadherins branch out: Multiple roles in dendrite development. | Keeler AB et al. | — | 2015 | → |
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| Use of transcranial magnetic stimulation in autism spectrum disorders. | Oberman LM et al. | — | 2015 | → |
| A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. | Bacchelli E et al. | — | 2014 | → |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | — | 2014 | → |
| Analyses of copy number variation reveal putative susceptibility loci in MTX-induced mouse neural tube defects. | Wang J et al. | — | 2014 | → |
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| Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation. | Marrale M et al. | — | 2014 | → |
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| Beyond E-cadherin: roles of other cadherin superfamily members in cancer. | van Roy F | — | 2014 | → |
| Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior. | Butler MG et al. | — | 2014 | → |
| Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research. | Kari JA et al. | — | 2014 | → |
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| Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion. | Fernández-Jaén A et al. | — | 2014 | → |
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| Endosomal pH in neuronal signaling and synaptic transmission: role of Na(+)/H(+) exchanger NHE5. | Diering GH et al. | — | 2014 | → |
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| Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder. | Smith RM et al. | — | 2014 | → |
| Functional effects of dopamine transporter gene genotypes on in vivo dopamine transporter functioning: a meta-analysis. | Faraone SV et al. | — | 2014 | → |
| GABAergic/glutamatergic imbalance relative to excessive neuroinflammation in autism spectrum disorders. | El-Ansary A et al. | — | 2014 | → |
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| Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function. | Bersten DC et al. | — | 2014 | → |
| Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. | Matsunami N et al. | — | 2014 | → |
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| Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. | Chaste P et al. | — | 2014 | → |
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| New insights into the roles of the contactin cell adhesion molecules in neural development. | Mohebiany AN et al. | — | 2014 | → |
| Prefrontal cortical and striatal transcriptional responses to the reinforcing effect of repeated methylphenidate treatment in the spontaneously hypertensive rat, animal model of attention-deficit/hyperactivity disorder (ADHD). | dela Peña I et al. | — | 2014 | → |
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| Protocadherin 10 suppresses tumorigenesis and metastasis in colorectal cancer and its genetic loss predicts adverse prognosis. | Jao TM et al. | — | 2014 | → |
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| Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. | Kim YS et al. | — | 2014 | → |
| Regulation of the neuronal transcription factor NPAS4 by REST and microRNAs. | Bersten DC et al. | — | 2014 | → |
| Sarm1, a neuronal inflammatory regulator, controls social interaction, associative memory and cognitive flexibility in mice. | Lin CW et al. | — | 2014 | → |
| Synaptic proteins and receptors defects in autism spectrum disorders. | Chen J et al. | — | 2014 | → |
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| The genetic landscape of autism spectrum disorders. | Rosti RO et al. | — | 2014 | → |
| The intracellular Na(+)/H(+) exchanger NHE7 effects a Na(+)-coupled, but not K(+)-coupled proton-loading mechanism in endocytosis. | Milosavljevic N et al. | — | 2014 | → |
| The WAVE regulatory complex links diverse receptors to the actin cytoskeleton. | Chen B et al. | — | 2014 | → |
| Traditional and emerging roles for the SLC9 Na+/H+ exchangers. | Fuster DG et al. | — | 2014 | → |
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| Amish revisited: next-generation sequencing studies of psychiatric disorders among the Plain people. | Hou L et al. | — | 2013 | → |
| A multi-platform draft de novo genome assembly and comparative analysis for the Scarlet Macaw (Ara macao). | Seabury CM et al. | — | 2013 | → |
| A novel predicted calcium-regulated kinase family implicated in neurological disorders. | Dudkiewicz M et al. | — | 2013 | → |
| Autism as the Early Closure of a Neuroplastic Critical Period Normally Seen in Adolescence. | Berger JM et al. | — | 2013 | → |
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| C3orf58, a novel paracrine protein, stimulates cardiomyocyte cell-cycle progression through the PI3K-AKT-CDK7 pathway. | Beigi F et al. | — | 2013 | → |
| Changes in plasticity across the lifespan: cause of disease and target for intervention. | Oberman L et al. | — | 2013 | → |
| Channelopathy pathogenesis in autism spectrum disorders. | Schmunk G et al. | — | 2013 | → |
| Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. | Ouyang Q et al. | — | 2013 | → |
| Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites. | Mercati O et al. | — | 2013 | → |
| Contactins in the neurobiology of autism. | Zuko A et al. | — | 2013 | → |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | Jiang YH et al. | — | 2013 | → |
| Diagnostic delay of autism in Jordan: review of 84 cases. | Masri AT et al. | — | 2013 | → |
| Differential gene body methylation and reduced expression of cell adhesion and neurotransmitter receptor genes in adverse maternal environment. | Oh JE et al. | — | 2013 | → |
| Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? | Amiet C et al. | — | 2013 | → |
| Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation. | Deane EC et al. | — | 2013 | → |
| Epigenomic Mechanisms of Early Adversity and HPA Dysfunction: Considerations for PTSD Research. | McGowan PO | — | 2013 | → |
| FMRP: a triple threat to PSD-95. | Westmark CJ | — | 2013 | → |
| Functional evaluation of autism-associated mutations in NHE9. | Kondapalli KC et al. | — | 2013 | → |
| Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. | Vardarajan BN et al. | — | 2013 | → |
| Identification of candidate intergenic risk loci in autism spectrum disorder. | Walker S et al. | — | 2013 | → |
| Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. | Matsunami N et al. | — | 2013 | → |
| Intellectual disability is associated with increased runs of homozygosity in simplex autism. | Gamsiz ED et al. | — | 2013 | → |
| MHCI requires MEF2 transcription factors to negatively regulate synapse density during development and in disease. | Elmer BM et al. | — | 2013 | → |
| Microdeletion 5q14.3 and anomalies of brain development. | Hotz A et al. | — | 2013 | → |
| Pinar T. Ozand: Clinician-Scientist Extraordinaire. | Gascon GG et al. | — | 2013 | → |
| Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia. | Weissbach A et al. | — | 2013 | → |
| Protocadherin α (PCDHA) as a novel susceptibility gene for autism. | Anitha A et al. | — | 2013 | → |
| Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. | Lim ET et al. | — | 2013 | → |
| Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes. | Moya PR et al. | — | 2013 | → |
| Recent developments in the genetics of autism spectrum disorders. | Murdoch JD et al. | — | 2013 | → |
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| Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the sudden infant death syndrome. | Paterson DS | — | 2013 | → |
| SLC9/NHE gene family, a plasma membrane and organellar family of Na⁺/H⁺ exchangers. | Donowitz M et al. | — | 2013 | → |
| Spatial organization of ubiquitin ligase pathways orchestrates neuronal connectivity. | Yamada T et al. | — | 2013 | → |
| Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders. | Griesi-Oliveira K et al. | — | 2013 | → |
| Structural and molecular interrogation of intact biological systems. | Chung K et al. | — | 2013 | → |
| Sumoylated MEF2A coordinately eliminates orphan presynaptic sites and promotes maturation of presynaptic boutons. | Yamada T et al. | — | 2013 | → |
| The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation. | Condon KH et al. | — | 2013 | → |
| The genetic landscapes of autism spectrum disorders. | Huguet G et al. | — | 2013 | → |
| The MEF2 family and the brain: from molecules to memory. | Dietrich JB | — | 2013 | → |
| The molecular basis of experience-dependent motor system development. | Kalb RG et al. | — | 2013 | → |
| The Na(+)/H (+) exchanger NHE5 is sorted to discrete intracellular vesicles in the central and peripheral nervous systems. | Lukashova V et al. | — | 2013 | → |
| Using whole-exome sequencing to identify inherited causes of autism. | Yu TW et al. | — | 2013 | → |
| Abnormal modulation of corticospinal excitability in adults with Asperger's syndrome. | Oberman L et al. | — | 2012 | → |
| Allowing for sex differences increases power in a GWAS of multiplex Autism families. | Lu AT et al. | — | 2012 | → |
| Autism and the grand challenges in global mental health. | Khan NZ et al. | — | 2012 | → |
| Autism genetics: searching for specificity and convergence. | Berg JM et al. | — | 2012 | → |
| Autism risk factors: genes, environment, and gene-environment interactions. | Chaste P et al. | — | 2012 | → |
| Brain IL-6 elevation causes neuronal circuitry imbalances and mediates autism-like behaviors. | Wei H et al. | — | 2012 | → |
| Brain volume findings in 6-month-old infants at high familial risk for autism. | Hazlett HC et al. | — | 2012 | → |
| Cadherins and neuropsychiatric disorders. | Redies C et al. | — | 2012 | → |
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| Classical and desmosomal cadherins at a glance. | Saito M et al. | — | 2012 | → |
| CNVs leading to fusion transcripts in individuals with autism spectrum disorder. | Holt R et al. | — | 2012 | → |
| DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism. | Aguiar D et al. | — | 2012 | → |
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| Differential expression of SLC9A9 and interacting molecules in the hippocampus of rat models for attention deficit/hyperactivity disorder. | Zhang-James Y et al. | — | 2012 | → |
| Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. | Hedges DJ et al. | — | 2012 | → |
| Expression of delta-protocadherins in the spinal cord of the chicken embryo. | Lin J et al. | — | 2012 | → |
| Fragmentation and unpredictability of early-life experience in mental disorders. | Baram TZ et al. | — | 2012 | → |
| Gene expression studies in autism: moving from the genome to the transcriptome and beyond. | Voineagu I | — | 2012 | → |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | — | 2012 | → |
| Genetic, morphometric, and behavioral factors linked to the midsagittal area of the corpus callosum. | Newbury AJ et al. | — | 2012 | → |
| Genome-wide association analysis identifies susceptibility loci for migraine without aura. | Freilinger T et al. | — | 2012 | → |
| Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. | Luo R et al. | — | 2012 | → |
| Genomic structural variation in psychiatric disorders. | Rucker JJ et al. | — | 2012 | → |
| Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity. | Khorshidi A et al. | — | 2012 | → |
| Identification of CTCF as a master regulator of the clustered protocadherin genes. | Golan-Mashiach M et al. | — | 2012 | → |
| Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. | Vincent AK et al. | — | 2012 | → |
| Implications of gene copy-number variation in health and diseases. | Almal SH et al. | — | 2012 | → |
| MEF2 negatively regulates learning-induced structural plasticity and memory formation. | Cole CJ et al. | — | 2012 | → |
| Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. | Tsai NP et al. | — | 2012 | → |
| Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. | Ben-David E et al. | — | 2012 | → |
| Neurotransmitter corelease: mechanism and physiological role. | Hnasko TS et al. | — | 2012 | → |
| PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. | Depienne C et al. | — | 2012 | → |
| Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders. | Kalkman HO | — | 2012 | → |
| Role of PCDH10 and its hypermethylation in human gastric cancer. | Li Z et al. | — | 2012 | → |
| Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder. | Saxena V et al. | — | 2012 | → |
| Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders. | Spooren W et al. | — | 2012 | → |
| The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. | Zweier M et al. | — | 2012 | → |
| The role of neurexins in schizophrenia and autistic spectrum disorder. | Reichelt AC et al. | — | 2012 | → |
| Trajectories of autism severity in children using standardized ADOS scores. | Gotham K et al. | — | 2012 | → |
| Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. | Chahrour MH et al. | — | 2012 | → |
| Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: initial studies and future directions. | Carter MD et al. | — | 2011 | → |
| A review of candidate urinary biomarkers for autism spectrum disorder. | Wang L et al. | — | 2011 | → |
| Behavioral profiles of mouse models for autism spectrum disorders. | Ey E et al. | — | 2011 | → |
| Cadherins in cerebellar development: translation of embryonic patterning into mature functional compartmentalization. | Redies C et al. | — | 2011 | → |
| Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. | Aziz A et al. | — | 2011 | → |
| Characterizing brain cortical plasticity and network dynamics across the age-span in health and disease with TMS-EEG and TMS-fMRI. | Pascual-Leone A et al. | — | 2011 | → |
| Commentary: Definitely more than measurement error: but how should we understand and deal with informant discrepancies? | Achenbach TM | — | 2011 | → |
| Contactin 4 as an autism susceptibility locus. | Cottrell CE et al. | — | 2011 | → |
| Contactins: structural aspects in relation to developmental functions in brain disease. | Zuko A et al. | — | 2011 | → |
| Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. | Salyakina D et al. | — | 2011 | → |
| Delta Protocadherin 10 is Regulated by Activity in the Mouse Main Olfactory System. | Williams EO et al. | — | 2011 | → |
| DIA1R is an X-linked gene related to Deleted In Autism-1. | Aziz A et al. | — | 2011 | → |
| Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years. | Hazlett HC et al. | — | 2011 | → |
| Endosomal Na+ (K+)/H+ exchanger Nhx1/Vps44 functions independently and downstream of multivesicular body formation. | Kallay LM et al. | — | 2011 | → |
| Epigenetic inactivation of PCDH10 in human prostate cancer cell lines. | Li Z et al. | — | 2011 | → |
| Expanding the range of ZNF804A variants conferring risk of psychosis. | Steinberg S et al. | — | 2011 | → |
| Following the genes: a framework for animal modeling of psychiatric disorders. | Mitchell KJ et al. | — | 2011 | → |
| Gene and miRNA expression profiles in autism spectrum disorders. | Ghahramani Seno MM et al. | — | 2011 | → |
| Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder. | Yasuda Y et al. | — | 2011 | → |
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| Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses. | Johnson HM et al. | — | 2011 | → |
| Genome-wide analysis reveals the vacuolar pH-stat of Saccharomyces cerevisiae. | Brett CL et al. | — | 2011 | → |
| Genomic designation: how genetics can delineate new, phenotypically diffuse medical categories. | Navon D | — | 2011 | → |
| How to communicate with vaccine-hesitant parents. | Healy CM et al. | — | 2011 | → |
| Human copy number variation and complex genetic disease. | Girirajan S et al. | — | 2011 | → |
| Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. | Ben-David E et al. | — | 2011 | → |
| Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease. | Brehm JM et al. | — | 2011 | → |
| Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family-based, Arab-Israeli sample. | Alkelai A et al. | — | 2011 | → |
| Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis. | Kurotaki N et al. | — | 2011 | → |
| Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. | Smith SE et al. | — | 2011 | → |
| Links between genetics and pathophysiology in the autism spectrum disorders. | Holt R et al. | — | 2011 | → |
| Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ et al. | — | 2011 | → |
| Mutations in the TSGA14 gene in families with autism spectrum disorders. | Korvatska O et al. | — | 2011 | → |
| Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin. | Xinhan L et al. | — | 2011 | → |
| Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. | Voineskos AN et al. | — | 2011 | → |
| Neuronal activity-regulated gene transcription in synapse development and cognitive function. | West AE et al. | — | 2011 | → |
| Non-clustered protocadherin. | Kim SY et al. | — | 2011 | → |
| Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions. | Ohgaki R et al. | — | 2011 | → |
| Presynaptic regulation of quantal size: K+/H+ exchange stimulates vesicular glutamate transport. | Goh GY et al. | — | 2011 | → |
| Protocadherin-12 cleavage is a regulated process mediated by ADAM10 protein: evidence of shedding up-regulation in pre-eclampsia. | Bouillot S et al. | — | 2011 | → |
| Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D et al. | — | 2011 | → |
| Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. | Pagnamenta AT et al. | — | 2011 | → |
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| Risk factors for autism: translating genomic discoveries into diagnostics. | Scherer SW et al. | — | 2011 | → |
| SLC9A9 mutations, gene expression, and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder. | Zhang-James Y et al. | — | 2011 | → |
| Synapse development in health and disease. | Melom JE et al. | — | 2011 | → |
| The contribution of GABAergic dysfunction to neurodevelopmental disorders. | Ramamoorthi K et al. | — | 2011 | → |
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| The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications. | Guerra DJ | — | 2011 | → |
| The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. | Miyake K et al. | — | 2011 | → |
| Why are autism spectrum conditions more prevalent in males? | Baron-Cohen S et al. | — | 2011 | → |
| X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. | Strømme P et al. | — | 2011 | → |
| A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. | van der Zwaag B et al. | — | 2010 | → |
| Allelic diversity in human developmental neurogenetics: insights into biology and disease. | Walsh CA et al. | — | 2010 | → |
| Analyses of copy number variation of GK rat reveal new putative type 2 diabetes susceptibility loci. | Ye ZQ et al. | — | 2010 | → |
| Animal models of neuropsychiatric disorders. | Nestler EJ et al. | — | 2010 | → |
| Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. | Feyder M et al. | — | 2010 | → |
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| Cell adhesion molecules and their involvement in autism spectrum disorder. | Ye H et al. | — | 2010 | → |
| Changes in prefrontal axons may disrupt the network in autism. | Zikopoulos B et al. | — | 2010 | → |
| Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. | Huang J et al. | — | 2010 | → |
| Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. | Ching MS et al. | — | 2010 | → |
| Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. | Nakayama T et al. | — | 2010 | → |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. | Hynes K et al. | — | 2010 | → |
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| Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. | Bittles AH et al. | — | 2010 | → |
| Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? | Roehl AC et al. | — | 2010 | → |
| Fever plus mitochondrial disease could be risk factors for autistic regression. | Shoffner J et al. | — | 2010 | → |
| Folate and methionine metabolism in autism: a systematic review. | Main PA et al. | — | 2010 | → |
| Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2. | Pfeiffer BE et al. | — | 2010 | → |
| Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D et al. | — | 2010 | → |
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| Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families. | Markunas CA et al. | — | 2010 | → |
| Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer. | Cheung HH et al. | — | 2010 | → |
| Genome-wide scan of copy number variation in late-onset Alzheimer's disease. | Heinzen EL et al. | — | 2010 | → |
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| Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. | Meilleur KG et al. | — | 2010 | → |
| High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. | Maestrini E et al. | — | 2010 | → |
| Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. | Wiśniowiecka-Kowalnik B et al. | — | 2010 | → |
| Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. | Toro R et al. | — | 2010 | → |
| Linkage and candidate gene studies of autism spectrum disorders in European populations. | Holt R et al. | — | 2010 | → |
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| Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. | Sousa I et al. | — | 2010 | → |
| Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. | Wang LS et al. | — | 2010 | → |
| Prenatal polycyclic aromatic hydrocarbon exposure leads to behavioral deficits and downregulation of receptor tyrosine kinase, MET. | Sheng L et al. | — | 2010 | → |
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| RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder. | Huang HS et al. | — | 2010 | → |
| Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. | Nowakowska BA et al. | — | 2010 | → |
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| A 15q13.3 microdeletion segregating with autism. | Pagnamenta AT et al. | — | 2009 | → |
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| Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. | Cuscó I et al. | — | 2009 | → |
| Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. | Vincent JB et al. | — | 2009 | → |
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| A glimmer of light for neuropsychiatric disorders. | Hyman SE | — | 2008 | → |
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| Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection. | Flavell SW et al. | — | 2008 | → |
| Genome-wide association studies: potential next steps on a genetic journey. | McCarthy MI et al. | — | 2008 | → |
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| Topoisomerase IIbeta activates a subset of neuronal genes that are repressed in AT-rich genomic environment. | Sano K et al. | — | 2008 | → |