Autism

Kilpinen H et al. (2009) Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.

O'Roak BJ et al. (2011) Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Gauthier J et al. (2011) Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Giulivi C et al. (2010) Mitochondrial dysfunction in autism.

Moreno-De-Luca D et al. (2010) Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Awadalla P et al. (2010) Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

Loirat C et al. (2010) Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.

Pinto D et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders.

Castermans D et al. (2010) SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

Levy SE et al. (2009) Autism.

Weiss LA et al. (2009) A genome-wide linkage and association scan reveals novel loci for autism.

Ma D et al. (2009) A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.

Voineagu I et al. (2011) Transcriptomic analysis of autistic brain reveals convergent molecular pathology.

Glessner JT et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Wang K et al. (2009) Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Cuscó I et al. (2009) Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Jones JR et al. (2008) Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.

Miles JH et al. (2008) Development and validation of a measure of dysmorphology: useful for autism subgroup classification.

Roohi J et al. (2009) Disruption of contactin 4 in three subjects with autism spectrum disorder.

Marshall CR et al. (2008) Structural variation of chromosomes in autism spectrum disorder.

Moessner R et al. (2007) Contribution of SHANK3 mutations to autism spectrum disorder.

Tabuchi K et al. (2007) A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice.

Sebat J et al. (2007) Strong association of de novo copy number mutations with autism.

et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Girirajan S et al. (2013) Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Parikshak NN et al. (2016) Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.

Choi GB et al. (2016) The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring.

Iossifov I et al. (2014) The contribution of de novo coding mutations to autism spectrum disorder.

De Rubeis S et al. (2014) Synaptic, transcriptional and chromatin genes disrupted in autism.

Sandin S et al. (2014) The familial risk of autism.

Pinto D et al. (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Poultney CS et al. (2013) Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

Krumm N et al. (2013) Transmission disequilibrium of small CNVs in simplex autism.

King IF et al. (2013) Topoisomerases facilitate transcription of long genes linked to autism.

Jiang YH et al. (2013) Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Gamsiz ED et al. (2013) Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Folstein S et al. (1977) Infantile autism: a genetic study of 21 twin pairs.

Lim ET et al. (2013) Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

O'Roak BJ et al. (2012) Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

Kong A et al. (2012) Rate of de novo mutations and the importance of father's age to disease risk.

Luo R et al. (2012) Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

Neale BM et al. (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders.

O'Roak BJ et al. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Sanders SJ et al. (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Vaags AK et al. (2012) Rare deletions at the neurexin 3 locus in autism spectrum disorder.

Gilman SR et al. (2011) Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

Levy D et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Sanders SJ et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Pickles A et al. (1995) Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism.

Gillberg C et al. (1999) Autism: not an extremely rare disorder.

Philippe A et al. (1999) Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

None (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

Klauck SM et al. (1997) Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients.

None (1997) Genetic influences in childhood-onset psychiatric disorders: autism and attention-deficit/hyperactivity disorder.

Hallmayer J et al. (1996) Autism and the X chromosome. Multipoint sib-pair analysis.

Bailey A et al. (1996) Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives.

Schaefer GB et al. (1996) Hypoplasia of the cerebellar vermis in neurogenetic syndromes.

None (1994) Leo Kanner, 1894-1981.

Bolton P et al. (1994) A case-control family history study of autism.

Bailey A et al. (1995) Autism as a strongly genetic disorder: evidence from a British twin study.

Collins AL et al. (2006) Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.

Burd L et al. (1985) Inquiry into the incidence of hyperlexia in a statewide population of children with pervasive developmental disorder.

Ritvo ER et al. (1985) Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism.

Ritvo ER et al. (1985) Concordance for the syndrome of autism in 40 pairs of afflicted twins.

Spence MA et al. (1985) Gene mapping studies with the syndrome of autism.

Blomquist HK et al. (1985) Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study.

Courchesne E et al. (1988) Hypoplasia of cerebellar vermal lobules VI and VII in autism.

Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives.

Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation.

Piven J et al. (1991) Platelet serotonin, a possible marker for familial autism.

Lopreiato JO et al. (1992) A complex chromosome rearrangement in a boy with autism.

Folstein S et al. (1977) Genetic influences and infantile autism.

Maestrini E et al. (1999) Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.

Schellenberg GD et al. (2006) Evidence for multiple loci from a genome scan of autism kindreds.

Vincent JB et al. (2006) An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.

Benayed R et al. (2005) Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus.

Trikalinos TA et al. (2006) A heterogeneity-based genome search meta-analysis for autism-spectrum disorders.

Ma DQ et al. (2005) Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Cohen D et al. (2005) Specific genetic disorders and autism: clinical contribution towards their identification.

Kolevzon A et al. (2004) Familial symptom domains in monozygotic siblings with autism.

SCHAIN RJ et al. (1961) Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children.

Yonan AL et al. (2003) A genomewide screen of 345 families for autism-susceptibility loci.

Lainhart JE et al. (2002) Autism, regression, and the broader autism phenotype.

Hallmayer J et al. (2002) On the twin risk in autism.

Yu CE et al. (2002) Presence of large deletions in kindreds with autism.

Taylor B et al. (2002) Measles, mumps, and rubella vaccination and bowel problems or developmental regression in children with autism: population study.

Silverman JM et al. (2002) Symptom domains in autism and related conditions: evidence for familiality.

Alarcón M et al. (2002) Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families.

Folstein SE et al. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder.

Bertrand J et al. (2001) Prevalence of autism in a United States population: the Brick Township, New Jersey, investigation.

Greenberg DA et al. (2001) Excess of twins among affected sibling pairs with autism: implications for the etiology of autism.

None (2001) A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

Liu J et al. (2001) A genomewide screen for autism susceptibility loci.

None (2001) Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

Lamb JA et al. (2000) Autism: recent molecular genetic advances.

Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology.

Orphanet article

OMIM.ORG article

Wikipedia article