The role of de novo noncoding regulatory mutations in neurodevelopmental disorders
TN Turner, EE Eichler - Trends in neurosciences, 2019 - cell.com
Advances in sequencing technology have significantly expanded our understanding of the
genetics of autism and neurodevelopmental disorders (NDDs). Continued technological …
genetics of autism and neurodevelopmental disorders (NDDs). Continued technological …
From de novo mutations to personalized therapeutic interventions in autism
WM Brandler, J Sebat - Annual review of medicine, 2015 - annualreviews.org
The high heritability, early age at onset, and reproductive disadvantages of autism spectrum
disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo …
disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo …
A review on the role of genetic mutations in the autism spectrum disorder
S Ghafouri-Fard, A Pourtavakoli, BM Hussen… - Molecular …, 2023 - Springer
Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
[HTML][HTML] Discovery of rare mutations in autism: elucidating neurodevelopmental mechanisms
ED Gamsiz, LN Sciarra, AM Maguire, MF Pescosolido… - …, 2015 - Elsevier
Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders
characterized by language, social, cognitive, and behavioral abnormalities. ASD is a …
characterized by language, social, cognitive, and behavioral abnormalities. ASD is a …
Recent advances in understanding the genetic architecture of autism
CM Dias, CA Walsh - Annual Review of Genomics and Human …, 2020 - annualreviews.org
Recent advances in understanding the genetic architecture of autism spectrum disorder
have allowed for unprecedented insight into its biological underpinnings. New studies have …
have allowed for unprecedented insight into its biological underpinnings. New studies have …
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
K Schmitz-Abe, G Sanchez-Schmitz, RN Doan… - Scientific reports, 2020 - nature.com
More than 98% of the human genome is made up of non-coding DNA, but techniques to
ascertain its contribution to human disease have lagged far behind our understanding of …
ascertain its contribution to human disease have lagged far behind our understanding of …
[PDF][PDF] De novo synonymous mutations in regulatory elements contribute to the genetic etiology of autism and schizophrenia
We analyze de novo synonymous mutations identified in autism spectrum disorders (ASDs)
and schizophrenia (SCZ) with potential impact on regulatory elements using data from …
and schizophrenia (SCZ) with potential impact on regulatory elements using data from …
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
Abstract Background Neurodevelopmental disorders (NDDs), including autism spectrum
disorder (ASD) and intellectual disability (ID), are common diagnoses with highly …
disorder (ASD) and intellectual disability (ID), are common diagnoses with highly …
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …