Dana Marafi

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici et al. · The American Journal of Human Genetics · 2021 · 102 citations · Full text

Life Sciences, Molecular Medicine, Neuroscience +15

Spectrum and time course of epilepsy and the associated cognitive decline in <i>MECP2</i> duplication syndrome

Dana Marafi, Bernhard Suter, Rebecca Schultz et al. · Neurology · 2018 · 43 citations · Full text

Medicine, Neurology, Neuroscience +17

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 39 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Biallelic <i>CACNA2D2</i> variants in epileptic encephalopathy and cerebellar atrophy

Jaya Punetha, Ender Karaca, Alper Gezdirici et al. · Annals of Clinical and Translational Neurology · 2019 · 38 citations · Full text

Life Sciences, Genetics, Neurology +17