Literature DB >> 22445335

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

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Abstract

We describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by web-based recruitment, multisite collaboration and calibration, and robust data-sharing policies could be adopted by other groups studying neuropsychiatric disorders to accelerate the pace of research.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 22445335     DOI： 10.1016/j.neuron.2012.02.014

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


  62 in total

1.  Co-occurring medical conditions among individuals with ASD-associated disruptive mutations.

Authors:  Evangeline C Kurtz-Nelson; Jennifer S Beighley; Caitlin M Hudac; Jennifer Gerdts; Arianne S Wallace; Kendra Hoekzema; Evan E Eichler; Raphael A Bernier
Journal:  Child Health Care       Date:  2020-03-17

2.  The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

Authors:  Ellen Hanson; Raphael Bernier; Ken Porche; Frank I Jackson; Robin P Goin-Kochel; LeeAnne Green Snyder; Anne V Snow; Arianne Stevens Wallace; Katherine L Campe; Yuan Zhang; Qixuan Chen; Debra D'Angelo; Andres Moreno-De-Luca; Patrick T Orr; K B Boomer; David W Evans; Stephen Kanne; Leandra Berry; Fiona K Miller; Jennifer Olson; Elliot Sherr; Christa L Martin; David H Ledbetter; John E Spiro; Wendy K Chung
Journal:  Biol Psychiatry       Date:  2014-06-16       Impact factor: 13.382

3.  A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

Authors:  Evelina Fedorenko; Angela Morgan; Elizabeth Murray; Annie Cardinaux; Cristina Mei; Helen Tager-Flusberg; Simon E Fisher; Nancy Kanwisher
Journal:  Eur J Hum Genet       Date:  2015-07-15       Impact factor: 4.246

Review 4.  Autism spectrum disorder in sub-saharan africa: A comprehensive scoping review.

Authors:  Lauren Franz; Nola Chambers; Megan von Isenburg; Petrus J de Vries
Journal:  Autism Res       Date:  2017-03-07       Impact factor: 5.216

Review 5.  A Comparison of Structural Brain Imaging Findings in Autism Spectrum Disorder and Attention-Deficit Hyperactivity Disorder.

Authors:  Chase C Dougherty; David W Evans; Scott M Myers; Gregory J Moore; Andrew M Michael
Journal:  Neuropsychol Rev       Date:  2015-10-19       Impact factor: 7.444

6.  Opposing brain differences in 16p11.2 deletion and duplication carriers.

Authors:  Abid Y Qureshi; Sophia Mueller; Abraham Z Snyder; Pratik Mukherjee; Jeffrey I Berman; Timothy P L Roberts; Srikantan S Nagarajan; John E Spiro; Wendy K Chung; Elliott H Sherr; Randy L Buckner
Journal:  J Neurosci       Date:  2014-08-20       Impact factor: 6.167

7.  Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.

Authors:  Yi Shin Chang; Julia P Owen; Nicholas J Pojman; Tony Thieu; Polina Bukshpun; Mari L J Wakahiro; Elysa J Marco; Jeffrey I Berman; John E Spiro; Wendy K Chung; Randy L Buckner; Timothy P L Roberts; Srikantan S Nagarajan; Elliott H Sherr; Pratik Mukherjee
Journal:  Hum Brain Mapp       Date:  2016-05-24       Impact factor: 5.038

Review 8.  Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.

Authors:  Young Shin Kim; Matthew W State
Journal:  Int J Epidemiol       Date:  2014-03-11       Impact factor: 7.196

Review 9.  Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders.

Authors:  Young Shin Kim; Bennett L Leventhal
Journal:  Biol Psychiatry       Date:  2014-11-05       Impact factor: 13.382

10.  Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.

Authors:  Robin P Goin-Kochel; Sandy Trinh; Shelley Barber; Raphael Bernier
Journal:  J Autism Dev Disord       Date:  2017-11
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