Literature DB >> 24116704

The genetic landscape of autism spectrum disorders.

Rasim O Rosti1, Abdelrahim A Sadek, Keith K Vaux, Joseph G Gleeson.   

Abstract

Autism spectrum disorders (ASDs) are a group of heterogeneous neurodevelopmental disorders that show impaired communication and socialization, restricted interests, and stereotypical behavioral patterns. Recent advances in molecular medicine and high throughput screenings, such as array comparative genomic hybridization (CGH) and exome and whole genome sequencing, have revealed both novel insights and new questions about the nature of this spectrum of disorders. What has emerged is a better understanding about the genetic architecture of various genetic subtypes of ASD and correlations of genetic mutations with specific autism subtypes. Based on this new information, we outline a strategy for advancing diagnosis, prognosis, and counseling for patients and families.
© 2013 Mac Keith Press.

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Year:  2013        PMID: 24116704     DOI: 10.1111/dmcn.12278

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  32 in total

1.  Photodynamic Modification of Native HCN Channels Expressed in Thalamocortical Neurons.

Authors:  Fusheng Wei; Qiang Wang; Jizhong Han; Priyodarshan Goswamee; Ankush Gupta; Adam Rory McQuiston; Qinglian Liu; Lei Zhou
Journal:  ACS Chem Neurosci       Date:  2020-03-06       Impact factor: 4.418

Review 2.  New Assessments and Treatments in ASD.

Authors:  Roula N Choueiri; Andrew W Zimmerman
Journal:  Curr Treat Options Neurol       Date:  2017-02       Impact factor: 3.598

Review 3.  Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?

Authors:  Shafali Spurling Jeste; Roberto Tuchman
Journal:  J Child Neurol       Date:  2015-09-14       Impact factor: 1.987

4.  Genetic testing and autism: Tutorial for communication sciences and disorders.

Authors:  Laura S DeThorne; Stephanie Ceman
Journal:  J Commun Disord       Date:  2018-05-28       Impact factor: 2.288

5.  Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons.

Authors:  Fei Yi; Tamas Danko; Salome Calado Botelho; Christopher Patzke; ChangHui Pak; Marius Wernig; Thomas C Südhof
Journal:  Science       Date:  2016-03-10       Impact factor: 47.728

Review 6.  Diagnosis and management of autism spectrum disorder in the era of genomics: rare disorders can pave the way for targeted treatments.

Authors:  Elizabeth Baker; Shafali Spurling Jeste
Journal:  Pediatr Clin North Am       Date:  2015-04-04       Impact factor: 3.278

7.  Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.

Authors:  Luca Lovrečić; Polona Rajar; Marija Volk; Sara Bertok; Barbara Gnidovec Stražišar; Damjan Osredkar; Maja Jekovec Vrhovšek; Borut Peterlin
Journal:  J Appl Genet       Date:  2018-03-21       Impact factor: 3.240

Review 8.  An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.

Authors:  Isaac S Kohane
Journal:  Biol Psychiatry       Date:  2014-06-12       Impact factor: 13.382

9.  Hypothesis on supine sleep, sudden infant death syndrome reduction and association with increasing autism incidence.

Authors:  Nils J Bergman
Journal:  World J Clin Pediatr       Date:  2016-08-08

10.  Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder.

Authors:  Laura A Schieve; Stuart K Shapira
Journal:  Am J Epidemiol       Date:  2018-04-01       Impact factor: 4.897

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