In the current genomic revolution, the infancy life stage is the most neglected. Although
clinical genetics recognizes the value of early identification in infancy of rare genetic causes …

Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is
no consensus on their definition across the region. Patients with RDs face a diagnostic …

Biosensors are powerful tools for detecting, real-time imaging, and quantifying molecules,
but rapidly constructing diverse genetically encoded biosensors remains challenging. Here …

Since the introduction of genome sequencing in medicine, the factors involved in deciding
how to integrate this technology into population screening programs such as Newborn …

Due to high entry barriers, countries might find it daunting to implement the NBS program,
especially those just trying to start it. This review aims to discuss Indonesia's barriers that …

Objective: To identify the prevalence and associated factors with the performance of the
Guthrie test, hearing, and red reflex screening tests in Brazil. Methods: This was a …

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic
disorder that causes defects in the adrenal cortex enzymes that impair the biosynthesis of …

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Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental
disorders characterized by impaired social interaction, limited communication skills, and …

Abstract Purpose of Review Technological advances have allowed dried blood spots (DBS)
to be utilized for various measurements, helpful in population-based studies. The following …