Recent data support the use of behavioural and psychological interventions for social
communication and anxiety in ASD; data are more limited regarding pharmacotherapy for …

While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it
may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of …

Purpose Individuals with intellectual disability (ID) and/or neurodevelopment disorders
(NDDs) are currently investigated with several different approaches in clinical genetic …

Importance Exome sequencing (ES) has been established as the preferred first line of
diagnostic testing for certain neurodevelopmental disorders, such as global developmental …

Background Developmental disorders (DDs) are early onset disorders affecting 5%–10% of
children worldwide. Chromosomal microarray analysis detecting CNVs is currently …

This single-center study aims to determine the time, diagnostic procedure, and cost saving
potential of early exome sequencing in a cohort of 111 individuals with genetically confirmed …

Abstract Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous
conditions, which include mainly intellectual disability, developmental delay (DD) and …

Purpose Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …

Genetic testing has evolved rapidly over recent years and new developments have the
potential to provide insights that could improve the ability to diagnose, treat, and prevent …

Most consensus recommendations for the genetic diagnosis of neurodevelopmental
disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still …