Sateesh Maddirevula
Alfaisal University(SA)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing
Most-Cited Works
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources(2022)150 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 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