Autism Spectrum Disorder (ASD) is a heterogeneous and highly heritable neurodevelopmental disorder with a complex genetic architecture, consisting of a combination of common low-risk and more penetrant rare variants. This PhD project aimed to explore the contribution of rare variants in ASD susceptibility through NGS approaches in a cohort of 106 ASD families including 125 ASD individuals. Firstly, I explored the contribution of inherited rare variants towards the ASD phenotype in a girl with a maternally inherited pathogenic NRXN1 deletion. Whole exome sequencing of the trio family identified an increased burden of deleterious variants in the proband that could modulate the CNV penetrance and determine the disease development. In the ...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Autism spectrum disorder (ASD) is clinically and genetically heterogeneous; core symptoms range from...
Despite the great advances in recent years, there are still many gaps in the knowledge on the geneti...
: Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong g...
Thesis (Ph.D.)--University of Washington, 2014Autism spectrum disorder (ASD) is a common, heritable ...
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...
International audienceSome individuals with autism spectrum disorder (ASD) carry functional mutation...
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in recip...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in recip...
Many studies based on chromosomal microarray and next-generation sequencing (NGS) have identified hu...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Autism spectrum disorder (ASD) is clinically and genetically heterogeneous; core symptoms range from...
Despite the great advances in recent years, there are still many gaps in the knowledge on the geneti...
: Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong g...
Thesis (Ph.D.)--University of Washington, 2014Autism spectrum disorder (ASD) is a common, heritable ...
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...
International audienceSome individuals with autism spectrum disorder (ASD) carry functional mutation...
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in recip...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in recip...
Many studies based on chromosomal microarray and next-generation sequencing (NGS) have identified hu...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs)...