Publications

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2019
Vetrini, F. et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
2017
Küry, S. et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).
2015
Ng, B. G. et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat 36, 1048-51 (2015).