Elias I. Traboulsi

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

Mutations in a Human <i>ROBO</i> Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Joanna C. Jen, Wai‐Man Chan, Thomas M. Bosley et al. · Science · 2004 · 384 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

E. Ferda Perçin, D. Jonathan Horsford, Bharati Bapat et al. · Nature Genetics · 2000 · 288 citations

Life Sciences, Genetics, Molecular Genetics +14

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Anren Li, Xiaodong Jiao, Francis L. Munier et al. · The American Journal of Human Genetics · 2004 · 288 citations · Full text

Life Sciences, Dermatology, Genetics +7

Identifying photoreceptors in blind eyes caused by <i>RPE65</i> mutations: Prerequisite for human gene therapy success

Samuel G. Jacobson, Tomás S. Alemán, Artur V. Cideciyan et al. · Proceedings of the National Academy of Sciences · 2005 · 281 citations · Full text

Medicine, Genetics, Ophthalmology +17