Background To date, there are no data available concerning the impact of iron therapy on
the long-term well-being and health-related quality of life (HRQoL) in pregnancy. Objective …

Summary Background The WHO VISION 2020 global initiative against blindness, launched
in 2000, prioritised childhood visual disability by aiming to end avoidable childhood …

Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a
cancer susceptibility locus. New studies have shown, however, that earlier analyses of this …

Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and
testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the …

Mutations of the PMS2 DNA repair gene predispose to a characteristic range of
malignancies, with either childhood onset (when both alleles are mutated) or a partially …

Targeted hybridization enrichment prior to next‐generation sequencing is a widespread
method for characterizing sequence variation in a research setting, and is being adopted by …

Background The widespread adoption of high-throughput sequencing technologies by
genetic diagnostic laboratories has enabled significant expansion of their testing portfolios …

Purpose Retinal dystrophies are genetically heterogeneous, resulting from mutations in over
200 genes. Prior to the development of massively parallel sequencing, comprehensive …

Objectives Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM# 190320), a
systemic condition with hair, nail and bony changes, taurodontism and amelogenesis …

BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase
deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 …