[HTML][HTML] Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

KM Steinberg, D Ramachandran, VC Patel, AC Shetty… - Molecular autism, 2012 - Springer
Background Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors
for it remain largely unknown. Although structural variants with large effect sizes may explain …

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Nature genetics, 2007 - nature.com
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions.
The genetic architecture of ASDs is complex, requiring large samples to overcome …

Absence of coding mutations in the X‐linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

F Blasi, E Bacchelli, G Pesaresi… - American Journal of …, 2006 - Wiley Online Library
Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum
disorders (ASD), given the finding of point mutations in the two X‐linked genes NLGN3 and …

Identification of Four Novel Synonymous Substitutions in the X‐Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

K Yanagi, T Kaname, K Wakui… - Autism research and …, 2012 - Wiley Online Library
Mutations in the X‐linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were
first implicated in the pathogenesis of X‐linked autism in Swedish families. However, reports …

[HTML][HTML] Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

AJ Griswold, ND Dueker, D Van Booven, JA Rantus… - Molecular autism, 2015 - Springer
Background Autism spectrum disorder (ASD) is highly heritable, yet genome-wide
association studies (GWAS), copy number variation screens, and candidate gene …

[HTML][HTML] Functional significance of rare neuroligin 1 variants found in autism

M Nakanishi, J Nomura, X Ji, K Tamada, T Arai… - PLoS …, 2017 - journals.plos.org
Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common,
heterogeneous neurodevelopmental disorder characterized by impairments in social …

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation

X Xu, Z Hu, L Zhang, H Liu, Y Cheng, K Xia… - Brain and …, 2017 - Wiley Online Library
Introduction Neuroligins are postsynaptic cell adhesion molecules that interact with
neurexins to regulate the fine balance between excitation and inhibition of synapses …

Mutation screening of X‐chromosomal neuroligin genes: no mutations in 196 autism probands

JB Vincent, D Kolozsvari, WS Roberts… - American Journal of …, 2004 - Wiley Online Library
Autism, a childhood neuropsychiatric disorder with a strong genetic component, is currently
the focus of considerable attention within the field of human genetics as well many other …

No evidence for involvement of genetic variants in the X‐linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high …

AK Wermter, I Kamp‐Becker, K Strauch… - American Journal of …, 2008 - Wiley Online Library
Several lines of evidence indicate a role of mutations in the two X‐linked genes neuroligin 3
(NLGN3) and neuroligin 4 (NLGN4X) in the etiology of autistic spectrum disorders. To …

A Substitution Involving the NLGN4 Gene Associated with Autistic Behavior in the Greek Population

A Pampanos, K Volaki, E Kanavakis… - Genetic testing and …, 2009 - liebertpub.com
Autism is a neurodevelopmental disorder characterized by clinical, etiologic, and genetic
heterogeneity. During the last decade, predisposing genes and genetic loci were under …