Cathryn Poulton

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

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Elly Verbeek, Marije Meuwissen, Frans W. Verheijen et al. · European Journal of Human Genetics · 2012 · 122 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

Cathryn Poulton, Rachel Schot, Sima Kheradmand Kia et al. · The American Journal of Human Genetics · 2011 · 97 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +17

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

Cathryn Poulton, Renske Oegema, Daphne Heijsman et al. · Neurogenetics · 2012 · 78 citations

Medicine, Genetics, Neurology +10