Publications

Kaler S. G., et al. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)Molecular Genetics and Metabolism Reports. June 2020.

Parad, R. B., et al. Targeted next generation sequencing for newborn screening of Menkes disease. Molecular Genetics and Metabolism Reports. July 2020.