Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome
Preprint in bioRxiv (March 2024)
The most recent citing publications are shown below. View all 25 publications that cite this research output on Dimensions.
Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses.
Article in Human Reproduction (February 2023)
A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
Article in Molecular Genetics & Genomic Medicine (July 2019)