Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matthis Synofzik, Martine Tétreault et al.|New England Journal of Medicine|2022Cited by 243
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Sarah Fazal, Cyril Peter et al.|Nature Genetics|2024Cited by 34
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Bernard Brais, Edoardo Malfatti et al.|Nature Communications|2024Cited by 28