Sande CM et al.
The Journal of Clinical Investigation, 2025
Tummala H et al.
Embo Molecular Medicine, 2024
Wang Q et al.
Molecular Diagnosis & Therapy, 2024
Tague LK et al.
Jci Insight, 2023
Teranishi Y et al.
Journal of Medical Genetics, 2021
Norris K et al.
Human Genetics, 2021