Luciano Calzari

TL;DR: (epi)genotype–phenotype correlations define four different phenotypic BWS profiles with some degree of clinical overlap allowing to move toward genotype-based follow-up and cancer screening.

TL;DR: Evidence might suggest that the known correlation between XCI skewing and aging could not be a direct association but mediated by the number of SEMs, which was low in childhood and increased exponentially during aging.

TL;DR: The introduction of complementary techniques and additional tissue analyses into routine diagnostic work-up should facilitate the identification of cases undiagnosed because of mosaicism, a distinctive feature of epigenetic disorders.

TL;DR: It is shown for the first time that the integrity of the SCMC is essential for de novo methylation in the female germline and that following fertilisation methylation defects at imprinted genes persist, while most non-imprinted regions of the genome recover near-normal methylation post-implantation.

TL;DR: The results firmly establish the role of PADI6 in imprinting disorders as a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo.