Barbara R. DuPont

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

Nanda A. Singh, Carole Charlier, Dora Stauffer et al. · Nature Genetics · 1998 · 1.2K citations

Channelopathies, Molecular Neuroscience, Hyperpolarization (Biology) +12

<i>AGTR2</i> Mutations in X-Linked Mental Retardation

Virginie Vervoort, Michael A. Beachem, Penny S. Edwards et al. · Science · 2002 · 718 citations

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof et al. · Genetics in Medicine · 2021 · 190 citations · Full text

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp et al. · Human Genetics · 2014 · 189 citations

Genetic Disorder, Medicine, Genetics +10