Author
South Kazakhstan Medical AcademyORCID 0000-0003-1640-4010Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari…·Henry Houlden
This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.
Kai Shi Lim, María Teresa Periñán, Elaine Guo Yan Chew…·the Global Parkinson’s Genetics Program (GP2)
The paper identifies the LRRK2 p.A419V variant as a significant risk factor for Parkinson's disease in East Asian populations and explores its association with age of onset.
Lara Mariah Lange, Zih‐Hua Fang, Mary B. Makarious…·the Global Parkinson’s Genetic Program (GP2)
This paper analyzes genetic variation in Parkinson's disease across multiple ancestries, revealing ancestry-specific patterns and highlighting the importance of diverse populations in genetic research.
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.
Zhongbo Chen, David Zhang, Regina Hertfelder Reynolds…·Rubén Fernández‐Santiago
The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.
Niccolò Emanuele Mencacci, Regina Hertfelder Reynolds, Sonia García-Ruiz…·Caleb Webber
This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.