UDP-glycosyltransferases (UGTs) catalyze the covalent addition of sugars to a broad range
of lipophilic molecules. This biotransformation plays a critical role in elimination of a broad …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …

Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via
whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe …

Glycosylation, the addition of glycans or carbohydrates to proteins, lipids, or other glycans, is
a complex post-translational modification that plays a crucial role in cellular function. It is …

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical
development have emerged as important causes of focal epilepsies, particularly those due …