Janita Thusberg

TL;DR: The ability to integrate information across platforms provided key insights into previously defined gene expression subtypes and demonstrated the existence of four main breast cancer classes when combining data from five platforms, each of which shows significant molecular heterogeneity.

TL;DR: Whether rare genetic variants in genes involved in atrioventricular valvuloseptal morphogenesis contribute to AVSD in this sensitized population of Down syndrome individuals is investigated.

TL;DR: An in silico analysis of the main clinical findings and biochemical and molecular data of 13 CPS1D Italian patients indicates that the amino acid substitutions occur at evolutionary conserved positions and affect residues necessary for enzyme stability or function.

TL;DR: It is found that PGx variants are much more similar to neutral variants than to disease variants in the feature space consisting of residue conservation, neighboring residue Conservation, number of neighbors, and protein solvent accessibility.

TL;DR: The functional and pathogenic characterization of genetic variants presented here is required to predict their medical consequences in newborns to confirm the rising incidence of MCADD whose existence is increasingly recognized due to the efficacy of an expanded newborn screening panel by LC-MS/MS.