Author
Alexandria UniversityORCID 0000-0001-9384-6061Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur
The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.
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.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun
The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.