Lucie Dupuis

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

The paper develops CLN6 patient-derived iPSC models to study neurodegeneration, finding significant lysosomal and synaptic pathway changes in differentiated neurons.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.