Michèl A.A.P. Willemsen

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

Medicine, Neurology, Neuroscience +11

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving et al. · Genetics in Medicine · 2017 · 283 citations · Full text

Medicine, Molecular Genetics, Neurology +17

Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study

Frédéric Amant, Kristel Van Calsteren, M Halaška et al. · The Lancet Oncology · 2012 · 281 citations

Medicine, Oncology, Pediatrics +15