Genomic Medicine Lab

Selected Publications

Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE. Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. Ophthalmology. 2020 Jun;127(6):758-766.

Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, Mills RA, MacArthur DG, Ruddle JB, Burdon KP, Craig JE. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet. 2020 May;97(5):764-769.

Craig JE, Han X, Qassim A, Hassall M, Cooke Bailey JN, Kinzy TG, Khawaja AP, An J, Marshall H, Gharahkhani P, Igo RP Jr, Graham SL, Healey PR, Ong JS, Zhou T, Siggs OM, Law MH, Souzeau E, Ridge B, Hysi PG, Burdon KP, Mills RA, Landers J, Ruddle JB, Agar A, Galanopoulos A, White AJR, Willoughby CE, Andrew NH, Best S, Vincent AL, Goldberg I, Radford-Smith G, Martin NG, Montgomery GW, Vitart V, Hoehn R, Wojciechowski R, Jonas JB, Aung T, Pasquale LR, Cree AJ, Sivaprasad S, Vallabh NA; NEIGHBORHOOD consortium; UK Biobank Eye and Vision Consortium, Viswanathan AC, Pasutto F, Haines JL, Klaver CCW, van Duijn CM, Casson RJ, Foster PJ, Khaw PT, Hammond CJ, Mackey DA, Mitchell P, Lotery AJ, Wiggs JL, Hewitt AW, MacGregor S. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet. 2020 Feb;52(2):160-166.

Zammit NW*, Siggs OM*, Gray PE, Horikawa K, Langley DB, Walters SN, et al. Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity. Nat Immunol. 2019;20: 1299–1310.

Siggs OM, Russell A, Singh-Grewal D, Wong M, Chan P, Craig ME, et al. Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif. Front Immunol. 2019;10: 1544.

MacGregor S, Ong J-S, An J, Han X, Zhou T, Siggs OM, et al. Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nat Genet. 2018;50: 1067–1071.

Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, et al. Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proc Natl Acad Sci U S A. 2016;113: E3706–15.

Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA, Black J, Pater J, Willoughby JG, Burdon KP, Craig JE. Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. Eur J Hum Genet. 2017 Jun;25(6):711-718.

Souma T*, Tompson SW*, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, et al. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016;126: 2575–2587.

Siggs OM*, Xiao N*, Wang Y, Shi H, Tomisato W, Li X, et al. iRhom2 is required for the secretion of mouse TNFα. Blood. 2012;119: 5769–5771.

Siggs OM, Li X, Xia Y, Beutler B. ZBTB1 is a determinant of lymphoid development. J Exp Med. 2012;209: 19–27.

Siggs OM, Arnold CN, Huber C, Pirie E, Xia Y, Lin P, et al. The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow. Nat Immunol. 2011;12: 434–440.

Mérino D*, Giam M*, Hughes PD*, Siggs OM, Heger K, O’Reilly LA, et al. The role of BH3-only protein Bim extends beyond inhibiting Bcl-2-like prosurvival proteins. J Cell Biol. 2009;186: 355–362.

Siggs OM, Miosge LA, Yates AL, Kucharska EM, Sheahan D, Brdicka T, et al. Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions. Immunity. 2007;27: 912–926.


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