Carlos R. Ferreira

This study uses patient-derived iPSC cartilage organoids to show defective ECM deposition and altered chondrogenic trajectory in Saul-Wilson syndrome.

This study creates a murine model of Osteoglophonic Dysplasia by introducing a gain-of-function FGFR1 variant, revealing pathogenic mechanisms and demonstrating therapeutic potential with infigratinib.

This study uses deep learning to assess spinal severity in alkaptonuria, predict treatment status, and compare performance with clinicians.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.