Neurodevelopmental disorders (NDDs) and cancer share proteins, pathways, and
mutations. Their clinical symptoms are different. However, individuals with NDDs have …

Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic
workup; however, many remain genetically unsolved. There are various factors that account …

Summary Chromosome 16p11. 2 reciprocal genomic disorder, resulting from recurrent copy-
number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD) …

Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …

Background Intellectual disability (ID), or developmental delay (DD) when the individual is
yet under 5 years of age, is evident before 18 years of age and is characterised by …

MEF2C‐related disorders (aka MEF2C‐haploinsufficiency) are caused by variations in or
involving the MEF2C gene and are characterized by intellectual disability, developmental …

The non-coding genome, consisting of more than 98% of all genetic information in humans
and once judged as 'Junk DNA', is increasingly moving into the spotlight in the field of …

Many disease‐causing genes have been identified by determining the breakpoints of
balanced chromosomal translocations. Recent progress in genomic analysis has …

ABSTRACT (max 250w): Genetic epilepsy diagnosis is increasing due to technological
advancements. While molecular diagnosis use increases, chromosomal microarray analysis …

Purpose To elucidate the genetic cause of intellectual deficiency and/or congenital
malformations in two parental reciprocal translocation carriers and provide appropriate …