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List of works by Stuart W Tompson

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

scientific article published on 24 December 2008

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

scientific article published on 06 June 2016

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

scientific article published on 6 November 2017

Assaying the Effects of Splice Site Variants by Exon Trapping in a Mammalian Cell Line.

scientific article

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

scientific article published on 13 January 2012

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

scientific article published in June 2001

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

scientific article

Exome Sequence Analysis of 14 Families With High Myopia.

scientific article published on April 2017

Exome sequencing identifies PDE4D mutations in acrodysostosis

scientific article published on 29 March 2012

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium

scientific article published on 15 August 2019

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

scientific article published on 28 May 2018

In-utero epigenetic factors are associated with early-onset myopia in young children

scientific article published on 17 May 2019

Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders

scientific article

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

scientific article published on 17 January 2017

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

scientific article published on 21 September 2006

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