Mary Willis

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Review · The American Journal of Human Genetics · 2022 · 137 citations

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

Case report · The American Journal of Human Genetics · 2015 · 123 citations