Tarfa Alshidi
Publications by Year
Research Areas
Genomics and Rare Diseases, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Genomic analysis of primordial dwarfism reveals novel disease genes(2014)163 cited
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → The morbid genome of ciliopathies: an update(2020)103 cited
- → Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome(2013)74 cited
- → Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice(2016)69 cited
- → A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder(2017)52 cited
- → Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families(2023)37 cited
- → Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases(2023)31 cited
- → A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation(2017)28 cited
- → GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome(2017)20 cited