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De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 ;135(12):1399-1409..
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351..