Publications | Overview
- TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early onset peripheral neuropathy. Human Genetics 2021 Online before print. View abstract, Read full article
- Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders. Annu Rev Vis Sci. 2021 Sep 15;7:827-850. doi: 10.1146/annurev-vision-093019-114307. Epub 2021 Jun 3. PMID: 34081534. View abstract, Read full article
- Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 Mar 01. View abstract
- Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):22. View abstract
- Ocular injury via epinephrine auto-injector. J AAPOS. 2020 06; 24(3):179-181. View abstract
- Isolation and Culture of Oculomotor, Trochlear, and Spinal Motor Neurons from Prenatal Islmn:GFP Transgenic Mice. J Vis Exp. 2019 11 12; (153). View abstract
- Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell Rep. 2019 10 08; 29(2):437-452.e4. View abstract
- Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 09 15; 28(18):3113-3125. View abstract, Read full article
- Ex Vivo Oculomotor Slice Culture from Embryonic GFP-Expressing Mice for Time-Lapse Imaging of Oculomotor Nerve Outgrowth. J Vis Exp. 2019 07 16; (149). View abstract
- Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. J AAPOS. 2019 08; 23(4):226-228.e1. View abstract
- Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):5201-5209. View abstract
- Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration. Cell Rep. 2018 08 14; 24(7):1865-1879.e9. View abstract