Neonatal Health and Biochemistry

Structural divergence of G6PD variants shapes red blood cell storage and transfusion performance

The paper investigates how G6PD variants affect red blood cell storage, transfusion performance, and recipient physiology using multiple datasets and experimental models.

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.

Unconjugated bilirubin induces neuro-inflammation in an induced pluripotent stem cell-derived cortical organoid model of Crigler Najjar Syndrome

This study uses human iPSC-derived brain organoids to show that unconjugated bilirubin induces neuro-inflammation in a model of Crigler Najjar Syndrome.

Functional interpretation, cataloging, and analysis of 1,341 known and new glucose-6-phosphate dehydrogenase variants

The paper catalogs and interprets 1,341 G6PD variants, providing clinical interpretations for 400 variants and highlighting challenges in classification systems.