Postmortem studies have revealed that brains of individuals with autism spectrum disorder
(ASD) exhibit abnormalities in various components of the cholinergic system including …

We provide a concise overview on how genetic analysis, with a focus on GWAS and PRS,
can help explain different behavioural phenotypes in ADHD and how they can be used for …

Background It remains unknown why~ 30% of patients with psychotic disorders fail to
respond to treatment. Previous genomic investigations of treatment-resistant psychosis have …

Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11. 2
deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11. 2 region …

Neurodevelopmental disorders are a group of complex multifactorial disorders characterized
by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills …

Non-invasive prenatal testing (NIPT) has become a routine practice in screening for
common aneuploidies of chromosomes 21, 18, and 13 and gonosomes X and Y in fetuses …

Chromosomal microarray (CMA) is the reference in evaluation of copy number variations
(CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual …

Objective Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with
significant genetic heterogeneity. The ZIC gene family can regulate neurodevelopment …

Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with
developmental disabilities and congenital anomalies and is also routinely applied in …

Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations,
one of the more commonly observed of which is epilepsy. The frequency, severity, and type …