Renske Oegema

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Michel Kielar, Françoise Phan Dinh Tuy, Sara Bizzotto et al. · Nature Neuroscience · 2014 · 162 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 137 citations · Full text

Life Sciences, Genetics, Neurology +17