Author
University of Child Health SciencesORCID 0000-0001-9398-2127Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 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.
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen…·Nicola Whiffin
The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.
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.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji…·Gregory M. Findlay
This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.
Carolyn Le, Emanuela Argilli, Elizabeth George…·Elliott H. Sherr
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.