Yao-Shan Fan

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

Johan Staaf, Åke Borg, Sok Kean Khoo, 2008, European Journal of Human Genetics.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin R Riggs, Christa L Martin, E. Thorland, 2018, Human mutation.