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 · 98 citations · Full text

Successful Treatment, Renal Pathology, Pathology +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 · 89 citations · Full text

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 · 80 citations · Full text

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 · 68 citations · Full text

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari et al. · Human Molecular Genetics · 2017 · 66 citations · Full text

Joubert Syndrome, Lysosomal Storage Disease, Renal Pathology +22