Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …

Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals
of European ancestry, with less focus on underrepresented minority (URM) and underserved …

Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or
intermittent. Neonates with classic MSUD are born asymptomatic but without treatment …

The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from
defective lysosomal metabolism and subsequent accumulation of substrates. Patients …

Background Diagnostic trajectories for neurogenetic disorders frequently require the use of
considerable time and resources, exposing patients and families to so-called “diagnostic …

Genetic testing has evolved rapidly over recent years and new developments have the
potential to provide insights that could improve the ability to diagnose, treat, and prevent …

Purpose We performed a systematic review of the ethical, social, and cultural issues
associated with delivery of genetic services in low-and middle-income countries (LMICs) …

Cystic fibrosis (CF) in the A sian population is less frequently reported due to under‐
diagnosis and lack of centralized CF patient registries. Clinical studies on CF cases from A …

Oxford Nanopore sequencing technology (ONT) is currently widely used due to its
affordability, simplicity, and reliability. Despite the advantage ONT has over next-generation …