SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, F. Lucy Raymond, Daniel J. Scott et al.|Brain|2018Cited by 143
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossÉlodie M. Richard, Michele Pinelli, Somayeh Bakhtiari et al.|The American Journal of Human Genetics|2021Cited by 42