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Publications | Overview

  1. 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
  2. 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
  3. 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
  4. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):22. View abstract
  5. Ocular injury via epinephrine auto-injector. J AAPOS. 2020 06; 24(3):179-181. View abstract
  6. 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
  7. 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
  8. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Hum Mol Genet. 2019 09 15; 28(18):3113-3125. View abstractRead full article
  9. 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
  10. 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
  11. 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
  12. 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

 

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