The third Sustainable Development Goal (SDG), to ensure healthy lives and promote well-
being for all at all ages, has particular relevance and implementation challenges amongst …

Genetic carrier screening has been successfully used over the last decades to identify
individuals at risk of transmitting specific DNA variants to their newborns, thus having an …

Objective: To identify and report novel variants in the TMPRSS3 gene and their clinical
manifestations related to hearing loss as well as intervention outcomes. This information will …

Carrier screening can identify people at risk of conceiving pregnancies affected with
inherited genetic disorders or who have a genetic disorder with late or variable onset …

Background Phenylketonuria (PKU) is a common, congenital, autosomal recessive,
metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants. Methods 967 PKU …

Purpose The objective of this study is to assess the carrier frequency and pathogenic
variation of monogenetic diseases in a population of 114 subjects in Han Chinese from …

Background Emerging data reveal higher-than-expected prevalence of cystic fibrosis (CF)
among non-European populations worldwide including in the Indian subcontinent …

Introduction Carrier screening for genetic conditions has long been a part of preconception
and prenatal care. While the use of expanded carrier screening (ECS) is widely common in …

An ultimate goal of biomedical research into calcium channels is to enable better treatment
of disease, most prominently through the development of experimental therapeutics for …

Background People with autosomal recessive disorders often were born without awareness
of the carrier status of their parents. The American College of Medical Genetics and …