S. Tompson

发表

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Hane Lee, Deborah Krakow, Stanley F Nelson, 2012, American journal of human genetics.

Exome Sequence Analysis of 14 Families With High Myopia

T. Rosenberg, Derek M. Pavelec, T. Young, 2017, Investigative ophthalmology & visual science.

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

N. Karnani, S. Juo, S. Saw, 2019, PloS one.

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

D. Mackey, A. Hewitt, T. Young, 2022, Investigative ophthalmology & visual science.

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

S. Nelson, B. Merriman, D. Rimoin, 2009, American journal of human genetics.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Xiaorong Liu, S. Maurer-Stroh, D. Mackey, 2016, The Journal of clinical investigation.

Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders

Brendan H. Lee, Yuqing Chen, D. Cohn, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Michael F. Wangler, L. Ala‐Kokko, M. Wangler, 2010, American journal of human genetics.

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

S. Maurer-Stroh, R. Maroofian, E. Souzeau, 2020, Investigative ophthalmology & visual science.

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

L. Ala‐Kokko, E. Faqeih, J. Hecht, 2012, American journal of medical genetics. Part A.

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

Jonathan H. Morgan, M. P. Concas, Adriana I. Iglesias, 2018, Nature Genetics.

Cellular crosstalk regulates the aqueous humor outflow pathway and provides new targets for glaucoma therapies

T. Young, B. Thomson, T. Onay, 2021, Nature Communications.

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

C. Klaver, P. Mitchell, T. Wong, 2019, PloS one.

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

C. Klaver, P. Mitchell, T. Wong, 2019, PloS one.

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

C. Ponting, J. Goodship, H. Blair, 2011, BMC Biology.

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

J. Goodship, M. Wright, H. Blair, 2006, Human Genetics.

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

J. Goodship, P. Lapunzina, B. Hamel, 2003, American journal of human genetics.

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

J. Goodship, M. Wright, S. Tompson, 2001, Journal of medical genetics.

Exome Sequencing Identifies PDE 4 D Mutations in Acrodysostosis

S. Nelson, J. Graham, D. Rimoin, 2012 .

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome

E. Stone, S. Rozen, D. Abbott, 2017, Ophthalmic genetics.

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

Xiaorong Liu, D. Mackey, A. Hewitt, 2017, The Journal of clinical investigation.

Comparative Intraoperative Anterior Segment OCT Findings in Pediatric Patients with and without Glaucoma.

T. Young, B. Blodi, Yasmin S. Bradfield, 2019, Ophthalmology. Glaucoma.

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

T. Young, S. Tompson, 2017, Bio-protocol.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Xiaorong Liu, S. Maurer-Stroh, D. Mackey, 2016, The Journal of clinical investigation.