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Phenomics Lab

High-throughput solutions for large-scale disease phenotyping.

We have established scalable, high-throughput phenotyping methods for characterizing human and mouse eye diseases. The mouse eye phenotype screening service is available to laboratories throughout the world. Through the development of cooperative laboratory networks, we hope to expand our screening effort.

Projects

We have established a scalable, multilevel, high-throughput phenotyping laboratory to identify mouse models for eye disease.

Capturing surgical events for careful clinical studies has always been a challenge.

News

May 29 2018 | Posted In: 20/20 Blog, Press
Mar 16 2018 | Posted In: 20/20 Blog
Novel CAPN5 mutation associated with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Jun 21 2011 | Posted In: 20/20 Blog, Press
Researchers have found the existence of a new, rare inherited retinal disease. Now the search is on to find the genetic cause, which investigators hope will increase understanding of more common retinal diseases. The findings appeared in the Nov. 9 issue of the Archives of Ophthalmology. The macula...
Jun 21 2011 | Posted In: 20/20 Blog
Clinicians must distinguish between an infectious from sterile hypopyon. In our recently published photoessay, we suggest a clinical exam test that will help. To see how, download the publication.
| Posted In: 20/20 Blog
We collaborated with scientists to test software that automatically identifies fundus features of diabetic retinopathy. This technology is being commercialized with the hope of bringing eye care to underserved populations.

Publications

Gene Therapy Restores Mfrp and Corrects Axial Eye Length, Velez, Gabriel, Tsang Stephen H., Tsai Yi-Ting, Hsu Chun-Wei, Gore Anuradha, Abdelhakim Aliaa H., Mahajan Maryann, Silverman Ronald H., Sparrow Janet R., Bassuk Alexander G., et al. , Scientific reports, Volume 7, p.16151, (2017)
Comparison of microbiology and visual outcomes of patients undergoing small-gauge and 20-gauge vitrectomy for endophthalmitis., Almeida, David R. P., Chin Eric K., Shah Shaival S., Bakall Benjamin, Gehrs Karen M., H Boldt Culver, Russell Stephen R., Folk James C., and Mahajan Vinit B. , Clin Ophthalmol, 2016, Volume 10, p.167-72, (2016)
Defective Motile Cilia in Prickle2-Deficient Mice., Sowers, Levi P., Yin Terry, Mahajan Vinit B., and Bassuk Alexander G. , J Neurogenet, 2014 Apr 7, (2014)
Mcph1-deficient mice reveal a role for MCPH1 in otitis media., Chen, Jing, Ingham Neil, Clare Simon, Raisen Claire, Vancollie Valerie E., Ismail Ozama, McIntyre Rebecca E., Tsang Stephen H., Mahajan Vinit B., Dougan Gordon, et al. , PLoS One, 2013, Volume 8, Issue 3, p.e58156, (2013)
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes., White, Jacqueline K., Gerdin Anna-Karin, Karp Natasha A., Ryder Ed, Buljan Marija, Bussell James N., Salisbury Jennifer, Clare Simon, Ingham Neil J., Podrini Christine, et al. , Cell, 2013 Jul 18, Volume 154, Issue 2, p.452-64, (2013)
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome., McIntyre, Rebecca E., Chavali Pavithra Lakshminar, Ismail Ozama, Carragher Damian M., Sanchez-Andrade Gabriela, Forment Josep V., Fu Beiyuan, Velasco-Herrera Martin Del Castil, Edwards Andrew, van der Weyden Louise, et al. , PLoS Genet, 2012, Volume 8, Issue 11, p.e1003022, (2012)