Congenital nicotinamide adenine dinucleotide (NAD) deficiency disorders are associated
with pathogenic variants in the genes NADSYN1, HAAO, and KYNU. These disorders overlap …

You‐Hoover‐Fong syndrome (YHFS) is an autosomal recessive condition caused by
pathogenic variants in the TELO2 gene. Affected individuals were reported to have global …

The extracellular matrix is an environment rich with structural, mechanical, and molecular
signals that can impact cell biology. Traditional approaches in hydrogel biomaterial design …

Background Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn
error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent …

Purpose The SARS-CoV-2 pandemic abruptly altered medical education and clinical care.
This work evaluates trainee perspectives of the impact of the pandemic on medical genetics …

Liver transplantation (LT) has been used for many years as a therapeutic option for certain
inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience …

Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor
type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, …

Increased NHS regulation has identified many healthcare organisations with operational
and/or financial difficulties. Although the causes are often complex, most cases are effectively …

Complex chromosomal rearrangements involve the restructuring of genetic material within a
single chromosome or across multiple chromosomes. These events can cause serious …

… The appointment of Pritchard, who was health team leader … Pritchard is the ninth chief
executive of NHS England and the first woman to hold the post.“The immediate tasks for Amanda …