Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O'Roak, L Vives, W Fu, JD Egertson, IB Stanaway… - Science, 2012 - science.org
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …
novo mutations but few recurrently disrupted genes. We therefore developed a modified …
[HTML][HTML] Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism
Recent studies of genomic variation associated with autism have suggested the existence of
extreme heterogeneity. Large-scale transcriptomics should complement these results to …
extreme heterogeneity. Large-scale transcriptomics should complement these results to …
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified,. To identify …
yet in only a modest fraction of individuals can specific causes be identified,. To identify …
De novo mutations in histone-modifying genes in congenital heart disease
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …
years, there has been unprecedented progress on the genetics of many of these conditions …
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
[HTML][HTML] De novo gene disruptions in children on the autistic spectrum
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
[HTML][HTML] Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring
Over the last decade, there has been a significant increase in average paternal age when
the first child is conceived, either due to increased life expectancy, widespread use of …
the first child is conceived, either due to increased life expectancy, widespread use of …
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
SS Jeste, DH Geschwind - Nature Reviews Neurology, 2014 - nature.com
Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which
presents a substantial challenge to diagnosis and treatment. Over the past decade …
presents a substantial challenge to diagnosis and treatment. Over the past decade …
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …
of the absence of morphological clues, information about the position of such genes, and …