King J et al.
Cell Reports, 2025
Cohen C et al.
Genes & Diseases, 2024
Reis LM et al.
Human Genetics, 2019
Simpson CM et al.
Bmc Medical Genomics, 2019
Plaisancié J et al.
Clinical Genetics, 2018
Anand D et al.
Human Mutation, 2018
Kuang SQ et al.
The Journal of Clinical Investigation, 2016