During the last quarter of the twentieth century, our knowledge about human genetic variation was limited mainly to the heterochromatin polymorphisms, large enough to be …
Single-cell sequencing methods have emerged as powerful tools for identification of heterogeneous cell types within defined brain regions. Application of single-cell techniques …
Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists …
G Huguet, E Ey, T Bourgeron - Annual review of genomics and …, 2013 - annualreviews.org
The autism spectrum disorders (ASD) are characterized by impairments in social interaction and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By …
CS Leblond, J Heinrich, R Delorme, C Proepper… - PLoS …, 2012 - journals.plos.org
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins …
HC Mefford, H Muhle, P Ostertag, S von Spiczak… - PLoS …, 2010 - journals.plos.org
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …
Introduction The dramatic events of meiotic recombination culminate in the exchange of genetic information between parental chromosomes and ensure the production of …
Copy number variants (CNVs) play an important role in human disease and population diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …