Our work in collaboration with Dr. Joanna Kennedy and Dr. Ruth Newbury-Ecob is online in Genetics in Medicine. Its a fantastic international collaboration, with patient- , physician- and researcher-driven approach to studying rare disease. We find a genotype-phenotype correlation with disease severity, where late mutations (last two exons) have more significant symptoms. We identify rare missense mutations that cluster and cause the same clinical syndrome. Finally, our work provides clinical guidelines based on 76-patients with KAT6A syndrome based on systematic clinical evaluation. Access to full paper (no firewall) is here: https://rdcu.be/7zqR
Our KAT6A paper is online in Genetics in Medicine!