Author
Beni-Suef UniversityORCID 0000-0003-2289-8950Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Heba Morsy, Hyeonho Kim, Gyubin Jang…·Reza Maroofian
This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang…·Joseph G. Gleeson
The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.
Chiara Klöckner, J. Pedro Fernández-Murray, Mahtab Tavasoli…·Konrad Platzer
The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.