Simone Pizzi

TL;DR: This study more than doubles the number of published syndromes with DNA methylation episignatures and, most significantly, opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these disorders.

TL;DR: The data suggest an innovative approach of long-term establishment of normal- and cancer-derived renal organoids obtained from cultures of fleshly dissociated adult tissues, paving the way to organ replacement pioneering strategies as well as to new models for studying drug-induced nephrotoxicity and renal diseases.

TL;DR: This work reports that biallelic mutations in TBCD cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy and spastic quadriplegia.

TL;DR: It is reported that de novo missense mutations in KCNK4 cause a recognizable syndrome with a distinctive facial gestalt, for which the acronym FHEIG is proposed (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth).

TL;DR: The findings document the high diagnostic yield of targeted sequencing for patients with pediatric-onset, complex, and pure HSP and suggest that MLPA for SPAST and SNP array should be limited to properly selected cases based on clinical suspicion.