Rajaa Fathallah
Publications by Year
Research Areas
RNA Research and Splicing, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders, Nuclear Structure and Function, Mitochondrial Function and Pathology
Most-Cited Works
- → Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation(2020)22 cited
- → A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing(2023)8 cited
- → Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis(2024)2 cited
- → Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing(2022)
- → Whole-exome sequencing for prenatal diagnosis of fetal anomalies: insights from a Jordanian cohort(2025)
- → Genetic diagnosis of Jordanian patients with glycogen storage diseases(2025)
- → Outcomes of genetic testing and prenatal diagnosis of spinal muscular atrophy in Jordan(2025)
- → Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency(2025)