Deciphering the molecular basis of how modern human phenotypes have evolved is one of
the most fascinating challenges in biology. Here, we will focus on the roles of gene …

Abstract In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual
disability (ARID) in a large consanguineous family comprising seven affected individuals …

Intellectual disability is a non-specific phenotype present in a genetically heterogeneous
group of disorders. It is characterized by deficits in intellectual and adaptive functioning …

AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The
complex consists of nine catalytic and three non-catalytic proteins, which catalyze the …

Intellectual disability (ID) comprises a large group of heterogeneous disorders, often without
a known molecular cause. X-linked ID accounts for 5–10% of male ID cases. We …

Умственная отсталость встречается, по разным оценкам, у 1-3% населения.
Клинически принято классифицировать умственную отсталость по тяжести, однако …

Dissecting the genetic susceptibility to intellectual disability (ID) based on de novo mutations
(DNMs) will aid our understanding of the neurobiological and genetic basis of ID. In this …

Population medical genetics aims at translating clinically relevant findings from recent
studies of large cohorts into healthcare for individuals. Genetic counseling concerning …

We describe a boy with developmental delay, speech delay, and minor dysmorphic features
with a heterozygous de novo∼ 460 kb deletion at 2p13. 2 involving only parts of EXOC6B …

Background Intellectual disability (ID) is a neurodevelopmental disorder affecting 1%–3% of
the population worldwide. It is characterised by high phenotypic and genetic heterogeneity …