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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)
  • Fernando Miguel Pais, Graça Lobo, +39 authors Donna Eiskamp
  • 2000
Genetic algorithms (GAs) have been used to solve difficult optimization problems in a number of fields. One of the advantages of these algorithms is that they operate well even in domains where little is known, thus giving the GA the flavor of a general purpose problem solver. However, in order to solve a problem with the GA, the user usually has to specify(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)
Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet hyperserotonemia in a proportion of patients and its heritability within affected families suggest that genes involved in the serotonin system play a role in this disorder. The role in autism etiology of seven candidate genes in the serotonin metabolic and(More)
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of(More)
Falls are considered the main cause of fear and loss of independence among the elderly population and are also a major cause of morbidity, disability and health care utilization. In the majority of fall events external support is imperative in order to avoid major consequences. Therefore, the ability to automatically detect these fall events could help(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)
Autism is a common, severe and highly heritable neurodevelopmental disorder. The International Molecular Genetic Study of Autism Consortium (IMGSAC) genome screen for linkage in affected sib-pair families identified a chromosome 7q susceptibility locus (AUTS1), that has subsequently shown evidence of increased sharing in several independent multiplex(More)
OBJECTIVE FOXE1 is a transcription factor required for thyroid differentiation and function. FOXE1 locus polymorphisms (chromosome 9q22.33) were recently associated with increased sporadic thyroid cancer risk. In this study, we aimed to investigate the association of FOXE1 variants with nonmedullary thyroid cancer (NMTC), in both sporadic and familial(More)
In many longitudinal studies, the outcomes recorded on each subject include both a sequence of repeated measurements at pre-specified times and the time at which an event of particular interest occurs: for example, death, recurrence of symptoms or drop out from the study. The event time for each subject may be recorded exactly, interval censored or right(More)