Eman Alobeid
Washington University in St. Louis(US)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
RNA modifications and cancer, RNA Research and Splicing, Molecular Biology Techniques and Applications, RNA and protein synthesis mechanisms, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition(2016)149 cited
- → The genetic landscape of familial congenital hydrocephalus(2017)146 cited
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → The morbid genome of ciliopathies: an update(2020)103 cited
- → Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics(2020)97 cited
- → PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly(2019)89 cited
- → Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans(2019)60 cited
- → Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34(2019)34 cited
- → Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans(2019)29 cited