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Detection and impact of genetic disease in a level IV neonatal intensive care unit. Journal of Perinatology. 2022; 42:580-588.
Burden of Valvular Heart Disease in Patients with Fabry Disease. Journal of the American Society of Echocardiography. 2022; 35:236-238.
Novel neurological findings in an adult patient with Gaucher disease. Molecular Genetics and Metabolism. 2022; 135:s52.