Sanjeev S. Bhaskar
Publications by Year
Research Areas
PARP inhibition in cancer therapy, BRCA gene mutations in cancer, Ovarian cancer diagnosis and treatment, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls(2010)810 cited
- → Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations(2014)296 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)286 cited
- → Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas(2013)255 cited
- → The genetic basis of DOORS syndrome: an exome-sequencing study(2013)227 cited
- → Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot(2019)193 cited
- → Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation(2013)190 cited
- → Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome(2011)182 cited
- → Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing(2014)180 cited