Stylianos E. Antonarakis

TL;DR: An African origin for modern Homo sapiens and a phyletic structuring of the major geographical regions are supported and it is shown that divergence times for the various populations cannot be determined from these data.

TL;DR: The data suggests that PSQ is a robust, easy to interpret, and easy to set up method for the diagnosis of common aneuploidies, and can be performed in less than 48 h, representing a competitive alternative for widespread use in diagnostic laboratories.

TL;DR: In this article, the effect of the parental origin of the 22q11.2 microdeletion on the brain development of children and adolescents with velocardiofacial syndrome (VCFS) was investigated.

TL;DR: Identifying two novel RNA-splicing mutations affecting a critical nucleotide (nt) in the acceptor consensus sequences at both the IVS-1/exon 2 andIVS-2/ exon 3 junctions of the human beta-globin gene provides further support for the importance of the location of specific nucleotides within the consensus sequences in splice site selection and RNA processing.

TL;DR: A comprehensive physical map of overlapping YACs, a dense linkage map and an almost complete long-range restriction map have been produced much earlier than expected, helping to characterize both genes and their impact in health and disease.