Maree Flaherty

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

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

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features

Simon E. Skalicky, Andrew White, John Grigg et al. · JAMA Ophthalmology · 2013 · 77 citations

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Ivan Prokudin, Cas Simons, John Grigg et al. · European Journal of Human Genetics · 2013 · 71 citations · Full text

Causal Variants, Developmental Biology, Mendelian Disorder +10