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American Journal of Human Genetics|December 27, 2008
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecanStuart W Tompson, Barry Merriman, Vincent A Funari, et al.
Ophthalmic Genetics|January 18, 2017
Reduced penetrance in a large Caucasian pedigree with Stickler syndromeStuart W Tompson, Charles Johnson, Diana Abbott, et al.
Plos One|May 18, 2019
In-utero epigenetic factors are associated with early-onset myopia in young childrenWei Jie Seow, Cheryl S Ngo, Hong Pan, et al.
American Journal of Human Genetics|November 2, 2010
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen geneStuart W Tompson, Carlos A Bacino, Nicole P Safina, et al.
The Journal of Clinical Investigation|November 7, 2017
Angiopoietin-1 is required for Schlemm's canal development in mice and humansBenjamin R Thomson, Tomokazu Souma, Stuart W Tompson, et al.
Investigative Ophthalmology & Visual Science|October 7, 2020
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital GlaucomaTerri L Young, Kristina N Whisenhunt, Jing Jin, et al.
The Journal of Clinical Investigation|June 9, 2016
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivityTomokazu Souma, Stuart W Tompson, Benjamin R Thomson, et al.
Nature Genetics|May 30, 2018
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive errorMilly S Tedja, Robert Wojciechowski, Pirro G Hysi, et al.
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