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1.
Fountain, M.D.* et al.: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., accepted (2019)
2.
Parenti, I.* et al.: Expanding the clinical spectrum of the "HDAC8-phenotype" - implications for molecular diagnostics, counselling and risk prediction. Clin. Genet. 89, 564-573 (2016)