Robyn V. Jamieson

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A. Tischfield, Hagit Baris, Chen Wu et al. · Cell · 2010 · 602 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma

Robyn V. Jamieson · Human Molecular Genetics · 2002 · 271 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Ági K. Gedeon, Alison Colley, Robyn V. Jamieson et al. · Nature Genetics · 1999 · 187 citations

Life Sciences, Genetics, Molecular Genetics +6

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

John Grigg, Gladys Ho, Ivan Prokudin et al. · Human Mutation · 2015 · 137 citations · Full text

Medicine, Genetics, Ophthalmology +17

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

G. Cederquist, Anna Łuchniak, Max A. Tischfield et al. · Human Molecular Genetics · 2012 · 133 citations · Full text

Life Sciences, Genetics, Neuroscience +10