Author
Children's NationalORCID 0000-0003-4890-0262Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Péter Gergics, Cathy Smith, Hironori Bando…·Sally Ann Camper
The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.
Mansa Krishnamurthy, Daniel O. Kechele, Taylor R. Broda…·James M. Wells
This study uses patient-derived organoids to identify new pathologies in individuals with PDX1 mutations, revealing intestinal and gastric metaplasia.
Eric Bartell, Masanobu Fujimoto, Jane C. Khoury…·Andrew Nahum Dauber
The paper performs protein QTL analysis of IGF-I and its binding proteins in children to explore genetic regulation and growth mechanisms.