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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.
Bramswig, N.C.* et al.: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. 137, 753-768 (2018)