Avi Saskin
Publications by Year
Research Areas
Chromatin Remodeling and Cancer, Thyroid Cancer Diagnosis and Treatment, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer
Most-Cited Works
- → Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type(2014)493 cited
- → DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis(2019)59 cited
- → Glucocorticoid resistance syndrome caused by a novel <i>NR3C1</i> point mutation(2018)32 cited
- → Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency(2020)18 cited
- → COL4A1/2 CNVs and cerebral small vessel disease(2018)15 cited
- → Prevalence of four Mendelian disorders associated with autism in 2392 affected families(2017)13 cited
- → A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?(2017)11 cited
- → Reclassification of a frequent African‐origin variant from PMS2 to the pseudogene PMS2CL(2020)10 cited
- → Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser–Winter malformation syndrome(2017)5 cited
- → Isolated bilateral congenital lacrimal gland agenesis—a case series(2021)4 cited