Subject Areas on Research
- An algorithm for the reconstruction of consensus sequences of ancient segmental duplications and transposon copies in eukaryotic genomes.
- Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
- Characterization of long G4-rich enhancer-associated genomic regions engaging in a novel loop:loop 'G4 Kissing' interaction.
- Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome.