Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders

Molecular Genetics and Metabolism 2026

View at publisher

Authors: Stephen G. Kaler, Lalitha Venkataraman, Minh T. Pham, Benjamin C. Kennedy, Mohammad Marhabaie, Daniel C. Koboldt

DOI: 10.1016/j.ymgme.2026.109763

Cited by: 1

References: 21

Fields of Study & Subjects

Metabolism and Genetic Disorders Genomics and Rare Diseases Trace Elements in Health

References 21