• Publications
  • Influence
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, andExpand
  • 300
  • 15
  • PDF
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brainExpand
  • 120
  • 9
  • PDF
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship toExpand
  • 133
  • 9
  • PDF
Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist
The axonal shafts of neurons contain bundled microtubules, whereas extending growth cones contain unbundled microtubule filaments, suggesting that localized activation of microtubule-associatedExpand
  • 124
  • 9
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylationExpand
  • 208
  • 8
  • PDF
Cortical neuronal migration mutants suggest separate but intersecting pathways.
During brain development, neurons migrate great distances from proliferative zones to generate the cortical gray matter. A series of studies has identified genes that are critical for migration andExpand
  • 124
  • 8
Exome Sequencing Can Improve Diagnosis and Alter Patient Management
Exome sequencing of 118 patients with neurodevelopmental disorders shows that this technique is useful for identifying new pathogenic mutations and for correcting diagnosis in ~10% of cases. A NeedleExpand
  • 216
  • 7
Transgenic Mouse Line with Green-fluorescent Protein-labeled Centrin 2 allows Visualization of the Centrosome in Living Cells
The centrosome plays diverse roles throughout the cellular mitotic cycle and in post-mitotic cells. Analysis of centrosome position and dynamics in living murine cells has been limited due to a lackExpand
  • 74
  • 6
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Cell division terminates with cytokinesis and cellular separation. Autosomal-recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a reduction in brain and head sizeExpand
  • 46
  • 6
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Distinguishing Ciliopathy Cilia were once thought to be evolutionary remnants, but structural defects reveal their importance in signaling pathways and human disease, such as Joubert syndrome. EitherExpand
  • 71
  • 5