Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum,
impacting nearly every organ system and launching a family-driven diagnostic odyssey …

Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X
chromosome gene defects and disease-causing copy-number variants have been linked to …

Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …

Aim: To define the autoimmune potential of Severe Acute Respiratory Syndrome
Coronavirus 2 (SARS-CoV-2) infection. Methods: Experimentally validated epitopes …

Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

Purpose: The endoplasmic reticulum–associated degradation pathway is responsible for the
translocation of misfolded proteins across the endoplasmic reticulum membrane into the …

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a
heterogeneous group of disorders often associated with brain and eye defects in addition to …

An essential guide to this major contemporary issue, Consanguinity in Context is a uniquely
comprehensive account of intra-familial marriage. Detailed information on past and present …

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …

Almost 50 inborn errors of metabolism have been described due to congenital defects in N-
linked glycosylation. These phenotypically diverse disorders typically present as clinical …