Publications

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2018
Moccia, A. et al. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 20, 1022-1029 (2018).
2016
Harel, T. et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).