Genetics | Neurology | Ophthalmology | Pediatrics A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. March 9, 2023
Genetics | Neurology Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. April 26, 2022
Genetics | Neurology Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. June 2, 2020