Sumaya Alkanderi

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1

Sven Enerbäck, Daniel Nilsson, Noel Edwards et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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

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

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 · 69 citations · Full text

Medicine, Cell Biology, Genetics +16

Lessons learned from a multidisciplinary renal genetics clinic

Sumaya Alkanderi, Laura Yates, Sally Johnson et al. · QJM · 2017 · 45 citations · Full text

Medicine, Genetics, Molecular Genetics +17