The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …

Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes
of histone modification, including KMT2D and KDM6A. This review assesses our current …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Human skeletal stem cells (SSCs) have been discovered in fetal and adult long bones.
However, the spatiotemporal ontogeny of human embryonic SSCs during early …

Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …

In the last decade, exome and/or genome sequencing has become a common test in the
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …

Coregulator proteins interact with signal-dependent transcription factors to modify their
transcriptional activity. ZMIZ1 and ZMIZ2 (zinc finger MIZ-type containing 1 and 2) are …

De novo mutations (DNMs) in protein-coding genes are a well-established cause of
developmental disorders (DD). However, known DD-associated genes only account for a …

Abstract Background Inorganic lead (Pb) is common in the environment, and is toxic to
neurological, renal, and cardiovascular systems. Pb exposure influences the epigenome …

Background: Neurodevelopmental disorder with dysmorphic facies and distal skeletal
anomalies (NEDDFSA) is a rare syndromic disorder characterized by global …