Maria Antonietta Mencarelli

TL;DR: The GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2244 critically ill Covid-19 patients from 208 UK intensive care units is reported, finding evidence in support of a causal link from low expression of IFNAR2, and high expression of TYK2, to life-threatening disease.

TL;DR: In this article, the reciprocal duplication is associated with being clinically underweight, which is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa.

TL;DR: Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.

TL;DR: The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.

TL;DR: Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia, a rare autosomal-recessive genodermatosis characterised by poikILoderma, pachyonychia, and chronic neutropania.