The Aminoacyl-tRNA Synthetases (aaRSs) are an evolutionarily ancient family of enzymes
that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino …

Clinical genetic testing may identify the appropriate diagnosis in a subset of patients with
low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and …

Congenital myasthenic syndromes (CMS) are a rare group of inherited disorders caused by
gene defects associated with the neuromuscular junction and potentially treatable with …

Purpose: Advancements in genetic testing and analysis have allowed improved
identification of the genetic basis of childhood apraxia of speech, a rare speech …

Abstract Background Mitochondrial Diseases (MDs) are a diverse group of neurometabolic
disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by …

Panel germline testing allows for the efficient detection of deleterious variants for multiple
conditions, but the benefits and harms of identifying these variants are not always well …

Intellectual disabilities (ID) and autism spectrum disorders (ASD) have a variety of etiologies,
including environmental and genetic factors. Our study reports a psychiatric clinical …

Objective To reduce unnecessary simultaneous karyotype analysis and chromosomal
microarray (CMA) testing in the neonatal intensive care unit (NICU). Study design This …

Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation
of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs …

Intellectual disabilities (ID) and autism spectrum disorders (ASD) are characterized by
extreme genetic and phenotypic heterogeneity. However, understanding this heterogeneity …