Reza Maroofian
Queen Mary University of London(GB)National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, RNA regulation and disease, Metabolism and Genetic Disorders, Genomics and Rare Diseases
Most-Cited Works
- → Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination(2019)67 cited
- → Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants(2024)16 cited
- → Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder(2023)8 cited
- → Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder(2024)7 cited
- → Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder(2025)6 cited
- → Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders(2024)3 cited