Hessa S. Alsaif
King Abdulaziz City for Science and Technology(SA)Rambam Health Care Campus(IL)
Publications by Year
Research Areas
RNA modifications and cancer, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, Molecular Biology Techniques and Applications
Most-Cited Works
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans(2021)189 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development(2018)114 cited
- → Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants(2018)112 cited
- → Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism(2017)111 cited
- → Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics(2020)97 cited
- → The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs(2016)89 cited
- → Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract(2016)88 cited
- → DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification(2020)77 cited