RAB11A

Publications

Borroto MC et al. Cohort expansion and genotype-phenotype analysis of RAB11A-associated neurodevelopmental disorder. Pediatr Neurol. 2024;160:45-53. PMID: 39181022.

Hamdan FF et al. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet. 2017;101(5):664-685. PMID: 29100083.

Jenkins ML et al. Structural determinants of Rab11 activation by the guanine nucleotide exchange factor SH3BP5. Nat Commun. 2018;9(1):3772. PMID: 30217979.