Opportunities and challenges in modeling human brain disorders in transgenic primates
Molecular genetic tools have had a profound impact on neuroscience, but until recently their
application has largely been confined to a few model species, most notably mouse …
application has largely been confined to a few model species, most notably mouse …
A subset of autism-associated genes regulate the structural stability of neurons
YC Lin, JA Frei, MBC Kilander, W Shen… - Frontiers in cellular …, 2016 - frontiersin.org
Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect
individuals' ability to communicate and interact with others. People with ASD often exhibit …
individuals' ability to communicate and interact with others. People with ASD often exhibit …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism, 2017 - Springer
Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …
applied to aid in the understanding of the biology of traits. The success of this approach is …
Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders
Many neuropsychiatric and neurodevelopmental disorders commonly share genetic risk
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Purpose: The purpose of the current study was to assess the penetrance of NRXN1
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
Phenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review
P Castronovo, M Baccarin, A Ricciardello… - Clinical …, 2020 - Wiley Online Library
Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and
vesicular neurotransmitter release. They are encoded by three genes (NRXN1‐3), each …
vesicular neurotransmitter release. They are encoded by three genes (NRXN1‐3), each …
Noncoding copy-number variations are associated with congenital limb malformation
R Flöttmann, BK Kragesteen, S Geuer, M Socha… - Genetics in …, 2018 - nature.com
Purpose Copy-number variants (CNVs) are generally interpreted by linking the effects of
gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains …
gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains …
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric
disorders is a major challenge given their prevalence and potential severity for quality of life …
disorders is a major challenge given their prevalence and potential severity for quality of life …
[HTML][HTML] SFARI genes and where to find them; modelling Autism Spectrum Disorder specific gene expression dysregulation with RNA-seq data
MNT Arpi, TI Simpson - Scientific Reports, 2022 - nature.com
Abstract Autism Spectrum Disorders (ASD) have a strong, yet heterogeneous, genetic
component. Among the various methods that are being developed to help reveal the …
component. Among the various methods that are being developed to help reveal the …