User-guided 3D active contour segmentation of anatomical structures: Significantly improved efficiency and reliability
- P. Yushkevich, J. Piven, G. Gerig
- BiologyNeuroImage
- 1 July 2006
Visual Scanning of Faces in Autism
- K. Pelphrey, N. Sasson, J. Reznick, Gregory Paul, B. Goldman, J. Piven
- PsychologyJournal of Autism and Developmental Disorders
- 1 August 2002
The visual scanpaths of five high-functioning adult autistic males and five adult male controls were recorded using an infrared corneal reflection technique as they viewed photographs of human faces to suggest a mechanism that may subserve the social information processing deficits that characterize autism spectrum disorders.
Functional impact of global rare copy number variation in autism spectrum disorders
- D. Pinto, A. Pagnamenta, C. Betancur
- BiologyNature
- 15 July 2010
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
The Broad Autism Phenotype Questionnaire
- R. Hurley, M. Losh, M. Parlier, J. Reznick, J. Piven
- PsychologyJournal of Autism and Developmental Disorders
- 1 October 2007
A new instrument designed to measure the broad autism phenotype in adults, the Broad Autism Phenotype Questionnaire (BAPQ), was administered to 86 parents of autistic individuals and 64 community control parents and found sensitivity and specificity of the BAPQ for detecting the B AP were high.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- J. Glessner, Kai Wang, H. Hakonarson
- BiologyNature
- 28 May 2009
Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.
Common genetic variants on 5p14.1 associate with autism spectrum disorders
- Kai Wang, Haitao Zhang, H. Hakonarson
- Biology, PsychologyNature
- 28 May 2009
The results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to the authors' knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.
Broader autism phenotype: evidence from a family history study of multiple-incidence autism families.
- J. Piven, P. Palmer, D. Jacobi, D. Childress, Stephan Arndt
- Psychology, MedicineAmerican Journal of Psychiatry
- 1997
Higher rates of social and communication deficits and stereotyped behaviors were found in the relatives in the families with multiple-incidence autism, suggesting that this broader autism phenotype should be included in some future genetic analyses of this disorder.
Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years.
- H. Hazlett, M. Poe, J. Piven
- Medicine, PsychologyArchives of General Psychiatry
- 1 December 2005
Generalized enlargement of gray and white matter cerebral volumes, but not cerebellar volumes, are present at 2 years of age in autism, and indirect evidence suggests that this increased rate of brain growth in autism may have its onset postnatally in the latter part of the first year of life.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
- P. Szatmari, A. Paterson, K. J. Meyer
- BiologyNature Genetics
- 1 March 2007
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
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