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 · 589 citations · Full text

Axon Guidance, Protein Function, Molecular Biology +8

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

Ocular Disease, Developmental Biology, Human Lens +13

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

Somatic Variant, Genetic Disorder, Genetics +7

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 · 132 citations · Full text

Gap Junction Genes, Ocular Disease, Ophthalmology +12

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 · 130 citations · Full text

Axon Dysinnervation, Molecular Regulation, Genetics +19