Publications

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2021
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
2019
Patak, J. et al. MAGEL2-related disorders: A study and case series. Clin Genet 96, 493-505 (2019).