Shalabh Srivastava

Successful treatment of hypercalcaemia associated with a<i>CYP24A1</i>mutation with fluconazole: Fig. 1.

Judith A. Sayers, Ann Marie Hynes, Shalabh Srivastava et al. · Clinical Kidney Journal · 2015 · 107 citations · Full text

Medicine, Endocrinology, Nephrology +17

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen et al. · The American Journal of Human Genetics · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

Ann Marie Hynes, Rachel H. Giles, Shalabh Srivastava et al. · Proceedings of the National Academy of Sciences · 2014 · 83 citations · Full text

Medicine, Molecular Genetics, Nephrology +17

Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Katie Wong, David Pitcher, Fiona Braddon et al. · The Lancet · 2024 · 75 citations · Full text

Medicine, Internal Medicine, Nephrology +15

Targeted exon skipping of a <i>CEP290</i> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava et al. · Proceedings of the National Academy of Sciences · 2018 · 70 citations · Full text

Medicine, Genetics, Molecular Genetics +17