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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 20, 2014
Mice expressing mutant Trpv4 recapitulate the human TRPV4 disordersMichael M Weinstein, Stuart W Tompson, Yuqing Chen, et al.
Bio-Protocol|August 1, 2017
Assaying the Effects of Splice Site Variants by Exon Trapping in a Mammalian Cell LineStuart W Tompson, Terri L Young
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosisHane Lee, John M Graham, David L Rimoin, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2Stuart W Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, et al.
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.
Biorxiv : the Preprint Server for Biology|September 5, 2025
Leveraging Single-Cell Transcriptomics of Developing Rat Ocular Outflow Tissues for Prioritization of Congenital Glaucoma Candidate GenesSean M Martin, Kristina N Whisenhunt, Stuart W Tompson
American Journal of Medical Genetics. Part A|August 18, 2016
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasiaMichael M Weinstein, Taekyu Kang, Ralph S Lachman, et al.
The Journal of Cell Biology|September 4, 2003
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivoQiping Zheng, Guang Zhou, Roy Morello, et al.
American Journal of Human Genetics|June 14, 2005
Dysregulation of chondrogenesis in human cleidocranial dysplasiaQiping Zheng, Eiman Sebald, Guang Zhou, et al.
Plos One|February 8, 2011
Interaction of TGFβ and BMP signaling pathways during chondrogenesisBettina Keller, Tao Yang, Yuqing Chen, et al.
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