Marco Tartaglia

This study uses iPSC-derived neurons from NPC1 patients to show that BET inhibition with JQ1 improves neuronal viability and reduces cholesterol accumulation.

The paper identifies severe NFIX missense variants causing a subtype of Malan syndrome with progressive musculoskeletal issues and shows variant-specific DNA-binding disruptions.

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

Exome and transcriptome sequencing of salivary basal cell adenomas reveals a recurrent FBXW11 p.F517S mutation, exclusive with CTNNB1 p.I35T, together accounting for 94% of cases.

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.

The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.