Author
UCL Queen Square Institute of NeurologyORCID 0009-0007-6013-4819Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 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.
Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu
This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record…·Henry Houlden
The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.
Yuji Nakamura, Issei S. Shimada, Reza Maroofian…·Shinji Saitoh
This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.