Functional impact of global rare copy number variation in autism spectrum disorders
- D. Pinto, A. Pagnamenta, C. Betancur
- 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.
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
- S. Bione, E. Maestrini, D. Toniolo
- Biology, MedicineNature Genetics
- 1 December 1994
In all five patients studied, unique mutations in one of the genes, STA: these mutations result in the loss of all or part of the protein are reported.
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.
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.
A novel X-linked gene, G4.5. is responsible for Barth syndrome
- S. Bione, P. D’Adamo, E. Maestrini, A. Gedeon, P. Bolhuis, D. Toniolo
- Biology, MedicineNature Genetics
- 1 April 1996
The results suggest that G4.5 is the genetic locus responsible for the Barth syndrome, and introduces stop codons in the open reading frame interrupting translation of most of the putative proteins.
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
- D. Pinto, E. Delaby, S. Scherer
- Biology, PsychologyAmerican Journal of Human Genetics
- 25 March 2014
Analysis of shared heritability in common disorders of the brain
- V. Anttila, B. Bulik-Sullivan, B. Crespo-Facorro
- Psychology, MedicineScience
- 16 April 2016
It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
- C. Leblond, C. Nava, T. Bourgeron
- Biology, MedicinePLoS Genetics
- 1 September 2014
Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
- B. Franco, S. Guioli, A. Ballabio
- 10 October 1991
A gene has now been isolated from the critical region on Xp22.3 to which Kallmann's syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species.
A genome-wide scan for common alleles affecting risk for autism
- R. Anney, L. Klei, J. Hallmayer
- BiologyHuman Molecular Genetics
- 27 July 2010
In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.