Mary Willis

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani et al. · The American Journal of Human Genetics · 2015 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 106 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Expanding the phenotype of mosaic trisomy 20

Mary Willis, Lynne M. Bird, M. Dell'Aquilla et al. · American Journal of Medical Genetics Part A · 2008 · 92 citations

Life Sciences, Genetics, Pediatrics +17

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen et al. · Nature Communications · 2022 · 73 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Shweta U. Dhar, Fernando Scaglia, F.-Y. Li et al. · Molecular Genetics and Metabolism · 2008 · 72 citations

Life Sciences, Genetics, Molecular Genetics +10