Somayyeh Fahiminiya
Dalhousie University(CA)
Publications by Year
Research Areas
Microtubule and mitosis dynamics, Connective tissue disorders research, RNA modifications and cancer, Reproductive Biology and Fertility, Genomics and Rare Diseases
Most-Cited Works
- → Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type(2014)493 cited
- → Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome(2015)240 cited
- → SLC 25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome(2016)207 cited
- → Mutations in WNT1 are a cause of osteogenesis imperfecta(2013)196 cited
- → Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors(2016)190 cited
- → Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations(2020)153 cited
- → Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC(2015)135 cited
- → Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused byKIF11Mutations(2014)135 cited
- → Methodologies for Transcript Profiling Using Long-Read Technologies(2020)117 cited
- → DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma(2018)116 cited