Philippa B. Mills

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 542 citations

Pyridoxine-dependent Seizures, Genetic Disorder, Medicine +3

Evaluation of transgenic tomato plants expressing an additional phytoene synthase in a fruit-specific manner

Paul D. Fraser, Susanne Römer, Cathie A. Shipton et al. · Proceedings of the National Academy of Sciences · 2002 · 487 citations · Full text

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sídney M. Gospe et al. · The American Journal of Human Genetics · 2012 · 374 citations · Full text

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 312 citations · Full text

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

Philippa B. Mills, Robert Surtees, M. P. Champion et al. · Human Molecular Genetics · 2005 · 307 citations · Full text