Christine R. Isabella

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day et al. · The American Journal of Human Genetics · 2013 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Stereoelectronic Effects Impact Glycan Recognition

Caitlin M. McMahon, Christine R. Isabella, Ian W. Windsor et al. · Journal of the American Chemical Society · 2020 · 62 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes et al. · Journal of Medical Genetics · 2015 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout et al. · Genetics in Medicine · 2017 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17