@val-arboleda.bsky.social
Major props to Angela Wei, our first author and grad student, who drove the project from data to discovery!
rdcu.be/epzLx #Genomics #PhDlife #Science
rdcu.be/epzLx #Genomics #PhDlife #Science
Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions
Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...
rdcu.be
June 18, 2025 at 10:09 PM
Major props to Angela Wei, our first author and grad student, who drove the project from data to discovery!
rdcu.be/epzLx #Genomics #PhDlife #Science
rdcu.be/epzLx #Genomics #PhDlife #Science
A huge thank you to the @KAT6Foundation for fueling our mission to uncover the biology of rare neurodevelopmental disorders—and bring hope to families. #Neurodevelopment #RareDiseaseResearch
June 6, 2025 at 5:36 AM
A huge thank you to the @KAT6Foundation for fueling our mission to uncover the biology of rare neurodevelopmental disorders—and bring hope to families. #Neurodevelopment #RareDiseaseResearch
🧬 Create patient-specific iPSC models to understand KAT6B-related neurodevelopmental differences.
🐭 Build variant-specific KAT6A mouse models to explore how different mutations shape the brain and test potential therapies.
🐭 Build variant-specific KAT6A mouse models to explore how different mutations shape the brain and test potential therapies.
June 6, 2025 at 5:36 AM
🧬 Create patient-specific iPSC models to understand KAT6B-related neurodevelopmental differences.
🐭 Build variant-specific KAT6A mouse models to explore how different mutations shape the brain and test potential therapies.
🐭 Build variant-specific KAT6A mouse models to explore how different mutations shape the brain and test potential therapies.