Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation. - Jayne Y. Hehir-Kwa; Nienke Wieskamp; Caleb Webber; Rolph Pfundt; Han G. Brunner; Christian Gilissen; Bert B. A. de Vries; Chris P. Ponting; Joris A. Veltman (PLoS Comput. Biol., 2010)

Detecting dispersed duplications in high-throughput sequencing data using a database-free approach. - M. Kroon; Eric-Wubbo Lameijer; N. Lakenberg; Jayne Y. Hehir-Kwa; D. T. Thung; P. Eline Slagboom; Joost N. Kok; Kai Ye 001 (Bioinform., 2016)