Sanjeev S. Bhaskar

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 916 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +7

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Sanjeev S. Bhaskar, John H. Burton · Nature · 2010 · 810 citations · Full text

Genome-wide Association Study, Disease Susceptibility, Neurogenomics +10

Germline Mutations in <i>SUFU</i> Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With <i>PTCH1</i> Mutations

Miriam J. Smith, Christian Beetz, Simon G. Williams et al. · Journal of Clinical Oncology · 2014 · 294 citations

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

Chromatin, Genome Instability, Cause Coats +9

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Miriam J. Smith, James O’Sullivan, Sanjeev S. Bhaskar et al. · Nature Genetics · 2013 · 249 citations

Rare Diseases, Developmental Biology, Multiple Spinal Meningiomas +7