Advances in autism genetics: on the threshold of a new neurobiology
TLDR
Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.Abstract:
Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has led to the identification of several autism susceptibility genes and an increased appreciation of the contribution of de novo and inherited copy number variation. Promising strategies are also being applied to identify common genetic risk variants. Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.read more
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Finding the missing heritability of complex diseases
Teri A. Manolio,Francis S. Collins,Nancy J. Cox,David Goldstein,Lucia A. Hindorff,David J. Hunter,Mark I. McCarthy,Erin M. Ramos,Lon R. Cardon,Aravinda Chakravarti,Judy H. Cho,Alan E. Guttmacher,Augustine Kong,Leonid Kruglyak,Leonid Kruglyak,Elaine R. Mardis,Charles N. Rotimi,Montgomery Slatkin,David Valle,Alice S. Whittemore,Michael Boehnke,Andrew G. Clark,Evan E. Eichler,Greg Gibson,Jonathan L. Haines,Trudy F. C. Mackay,Steven A. McCarroll,Peter M. Visscher +27 more
TL;DR: This paper examined potential sources of missing heritability and proposed research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
Journal ArticleDOI
Global Prevalence of Autism and Other Pervasive Developmental Disorders
Mayada Elsabbagh,Gauri Divan,Yun Joo Koh,Young Shin Kim,Shuaib Kauchali,Shuaib Kauchali,Carlos Marcin,Cecilia Montiel-Nava,Vikram Patel,Cristiane Silvestre de Paula,Chongying Wang,M. T. Yasamy,Eric Fombonne +12 more
TL;DR: In this paper, a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide was provided, where the authors considered the possible impact of geographic, cultural/ethnic/ethnic, and socioeconomic factors on prevalence estimates and on clinical presentation of PDD.
Journal ArticleDOI
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
Irina Voineagu,Xinchen Wang,Patrick Johnston,Jennifer K. Lowe,Yuan Tian,Steve Horvath,Jonathan Mill,Rita M. Cantor,Benjamin J. Blencowe,Daniel H. Geschwind +9 more
TL;DR: The results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder.
Journal ArticleDOI
Dendritic spine pathology in neuropsychiatric disorders
TL;DR: This work discusses recent neuropathological, genetic, molecular and animal model studies that implicate structural alterations at spiny synapses in the pathogenesis of major neurological disorders, focusing on ASD, schizophrenia and Alzheimer's disease as representatives of these categories across different ages of onset.
Journal ArticleDOI
Behavioural phenotyping assays for mouse models of autism
TL;DR: Robust phenotypes in mouse models hold great promise as translational tools for discovering effective treatments for components of autism spectrum disorders.
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