Mutluay Arslan

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Arvid Suls, Johanna A. Jaehn, Angéla Kecskés et al. · The American Journal of Human Genetics · 2013 · 219 citations · Full text

Chd2 Cause, Dravet Syndrome, Molecular Neuroscience +8

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella et al. · Brain · 2017 · 158 citations · Full text

<i>KIAA0586</i>is Mutated in Joubert Syndrome

Ruxandra Bachmann‐Gagescu, Ian G. Phelps, Jennifer C. Dempsey et al. · Human Mutation · 2015 · 79 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +15

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 58 citations · Full text

Mendelian Disorder, Female Infertility, Whole-exome Sequencing Study +9