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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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Genomics and Rare DiseasesConnective tissue disorders research

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

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High-throughput discovery of novel developmental phenotypes

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Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

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Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

Wang, X., McCoy, P. A., Rodriguiz, R. M., Pan, Y., Je, H. S., Roberts, A. C., Kim, C. J., Berrios, J., Colvin, J. S., Bousquet-Moore, D., et al. (2011) · Human Molecular Genetics

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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

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α7 Nicotinic Receptor Subunits Are Not Necessary for Hippocampal-Dependent Learning or Sensorimotor Gating: A Behavioral Characterization of Acra7-Deficient Mice

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

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Prevalence of sexual dimorphism in mammalian phenotypic traits

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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

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Lessons learned from additional research analyses of unsolved clinical exome cases

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Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

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A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

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Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

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A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

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

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