Topic · Pediatrics, Perinatology and Child Health · Medicine
OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.
4 papers
Yash Pershad, Joseph H. Breeyear, Robert W. Corty…·Alexander G. Bick
The paper develops a clinical algorithm to identify individuals with G6PD p.Val68Met variant at risk for diabetes undertreatment using routine lab measurements.
Nicholas R. Powell, Renee C. Geck, Dongbing Lai…·Maitreya J. Dunham
The paper improves G6PD variant interpretation using All of Us data and a yeast assay, identifying new variants and classifying some as non-pathogenic.
Pol Solé-Navais, Julius Juodakis, Karin Ytterberg…·Bo Jacobsson
This study identifies a genome-wide association for neonatal jaundice, revealing distinct genetic pathways compared to adult bilirubin metabolism.
Metehan Guzelkaya, Ebru Onal, Emine Gelinci…·Gulcin Cakan‐Akdogan
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.