Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)Paola De Filippi, Cesare Danesino, Massimiliano Filosto et al.|Current Issues in Molecular Biology|2023Cited by 7
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Sarah Weckhuysen, Fatma Majdoub et al.|European Journal of Human Genetics|2024Cited by 4
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease geneSarah Weckhuysen, R. Frank Kooy, Noor Smal et al.|Research Square|2024Cited by 0