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 · 542 citations

Pyridoxine-dependent Seizures, Genetic Disorder, Medicine +3

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

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 · 406 citations · Full text

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 · 278 citations · Full text

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 · 275 citations

Early Life Exposure, Pediatric Epidemiology, Cardiac Outcomes +9