Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
scientific article published on 27 October 2016
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author: Marisol Del Rosario, Nicole de Leeuw, Servi Jc Stevens, Richard J Rodenburg, Arjen R Mensenkamp, Tuula Rinne, Christian Gilissen, Joris A Veltman, Rolph Pfundt, Helger G Yntema, Irene M Janssen, Dorien Lugtenberg, Lisenka Vissers, Erik-Jan Kamsteeg, Jayne Y Hehir-Kwa
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