Literature DB >> 20955926

The Simons Simplex Collection: a resource for identification of autism genetic risk factors.

Gerald D Fischbach1, Catherine Lord.   

Abstract

In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initiative (SFARI) has gathered a unique sample called the Simons Simplex Collection (SSC). More than 2000 families have been evaluated to date. On average, probands in the current sample exhibit moderate to severe autistic symptoms with relatively little intellectual disability. An interactive database has been created to facilitate correlations between clinical, genetic, and neurobiological data.
Copyright © 2010 Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Year:  2010        PMID: 20955926     DOI: 10.1016/j.neuron.2010.10.006

Source DB:  PubMed          Journal:  Neuron        ISSN: 0896-6273            Impact factor:   17.173


  293 in total

1.  Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.

Authors:  Thomas V Fernandez; Stephan J Sanders; Ilana R Yurkiewicz; A Gulhan Ercan-Sencicek; Young-Shin Kim; Daniel O Fishman; Melanie J Raubeson; Youeun Song; Katsuhito Yasuno; Winson S C Ho; Kaya Bilguvar; Joseph Glessner; Su Hee Chu; James F Leckman; Robert A King; Donald L Gilbert; Gary A Heiman; Jay A Tischfield; Pieter J Hoekstra; Bernie Devlin; Hakon Hakonarson; Shrikant M Mane; Murat Günel; Matthew W State
Journal:  Biol Psychiatry       Date:  2011-12-14       Impact factor: 13.382

2.  Emergence of autism spectrum disorder in children from simplex families: relations to parental perceptions of etiology.

Authors:  Robin P Goin-Kochel; Sarah S Mire; Allison G Dempsey
Journal:  J Autism Dev Disord       Date:  2015-05

3.  Utility of the social communication questionnaire-current and social responsiveness scale as teacher-report screening tools for autism spectrum disorders.

Authors:  G Thomas Schanding; Kerri P Nowell; Robin P Goin-Kochel
Journal:  J Autism Dev Disord       Date:  2012-08

4.  Emotional and behavioral adjustment in typically developing siblings of children with autism spectrum disorders.

Authors:  Allison G Dempsey; Ashlie Llorens; Christie Brewton; Simmi Mulchandani; Robin P Goin-Kochel
Journal:  J Autism Dev Disord       Date:  2012-07

Review 5.  Sharing heterogeneous data: the national database for autism research.

Authors:  Dan Hall; Michael F Huerta; Matthew J McAuliffe; Gregory K Farber
Journal:  Neuroinformatics       Date:  2012-10

6.  Effects of child characteristics on the Autism Diagnostic Interview-Revised: implications for use of scores as a measure of ASD severity.

Authors:  Vanessa Hus; Catherine Lord
Journal:  J Autism Dev Disord       Date:  2013-02

7.  Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Authors:  Deidre R Krupp; Rebecca A Barnard; Yannis Duffourd; Sara A Evans; Ryan M Mulqueen; Raphael Bernier; Jean-Baptiste Rivière; Eric Fombonne; Brian J O'Roak
Journal:  Am J Hum Genet       Date:  2017-08-31       Impact factor: 11.025

8.  Caspr2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice.

Authors:  L Brimberg; S Mader; V Jeganathan; R Berlin; T R Coleman; P K Gregersen; P T Huerta; B T Volpe; B Diamond
Journal:  Mol Psychiatry       Date:  2016-10-04       Impact factor: 15.992

9.  Mapping the Research Domain Criteria Social Processes Constructs to the Social Responsiveness Scale.

Authors:  Mirko Uljarević; Thomas W Frazier; Jennifer M Phillips; Booil Jo; Sandy Littlefield; Antonio Y Hardan
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2019-08-01       Impact factor: 8.829

Review 10.  Biomarkers in autism spectrum disorder: the old and the new.

Authors:  Barbara Ruggeri; Ugis Sarkans; Gunter Schumann; Antonio M Persico
Journal:  Psychopharmacology (Berl)       Date:  2013-10-06       Impact factor: 4.530

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.