Roya Mostafavi
Imam Hossein Hospital(IR)Shahid Beheshti University of Medical Sciences(IR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Childhood Cancer Survivors' Quality of Life, Epigenetics and DNA Methylation, Chromatin Remodeling and Cancer
Most-Cited Works
- → Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease(2021)165 cited
- → Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa(2015)86 cited
- → Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures(2019)73 cited
- → Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional Trials(2021)66 cited
- → Identification of novel candidate disease genes from de novo exonic copy number variants(2017)62 cited
- → Phase II study of alisertib as a single agent for treating recurrent or progressive atypical teratoid/rhabdoid tumor(2022)25 cited
- → Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma(2019)25 cited
- → Estimated number of adult survivors of childhood cancer in United States with cancer‐predisposing germline variants(2019)24 cited
- → Kagami-Ogata Syndrome: Case Series and Review of Literature(2021)19 cited
- → Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics(2024)14 cited