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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.
Xu, Z.* et al.: Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am. J. Hum. Genet. 103, 100-114 (2018)