Neonatal Health and Biochemistry

A clinical algorithm to identify people with the glucose-6-phosphate dehydrogenase p.Val68Met variant at risk for diabetes undertreatment

The paper develops a clinical algorithm to identify individuals with G6PD p.Val68Met variant at risk for diabetes undertreatment using routine lab measurements.

Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program

The paper improves G6PD variant interpretation using All of Us data and a yeast assay, identifying new variants and classifying some as non-pathogenic.

Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

This study identifies a genome-wide association for neonatal jaundice, revealing distinct genetic pathways compared to adult bilirubin metabolism.

A zebrafish model for studying mechanisms of newborn hyperbilirubinemia and bilirubin induced neurological damage

This paper develops a zebrafish model to study newborn hyperbilirubinemia and bilirubin-induced neurological damage, showing dose- and time-dependent toxicity and reproduction of clinical symptoms.