Publications
Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 ;24(5):660-5.
. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 ;135(5):569-586.
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