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Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs)(More)
on the risk for autism spectrum disorderspi Richard Anney1,, Lambertus Klei2, Dalila Pinto3,,, Joana Almeida4, Elena Bacchelli5, Gillian Baird6, Nadia Bolshakova1, Sven Bölte7, Patrick F. Bolton8, Thomas Bourgeron10,11, Sean Brennan1, Jessica Brian12, Jillian Casey13, Judith Conroy13, Catarina Correia14,15, Christina Corsello16, Emily L. Crawford17, Maretha(More)
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families(More)
We describe the identification and clinical presentation of four individuals from three unrelated families with hemizygous deletions involving the DPYD gene at chromosome 1p21.3. DPYD encodes dihydropyrimidine dehydrogenase, which is the initial and rate-limiting enzyme in the catabolism of pyrimidine bases. All four individuals described met diagnostic(More)
Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three(More)
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability (ID)2. While ASDs are known to(More)
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be(More)
This paper addresses the problem of classifying data sets. The aim of this research is to extend the discrimination of a decision system by adding polynomials of the base inputs to the available inputs. The polynomials used to extend the inputs are evolved using the quality of the decision trees resulting from the extended inputs as a fitness function. The(More)
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