Jonathan Ruddle

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Owen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, Andrew Dubowsky, Angela Chappell, Tiger Zhou, Shari Javadiyan, Jillian Nicholl, Lisa S Kearns, Sandra E Staffieri, Andrew Narita, James EH Smith, John Pater, Alex W Hewitt, Jonathan B Ruddle, James E Elder, David A Mackey, Kathryn P Burdon, Jamie E Craig

Journal article  |  2020  |  Ophthalmology

PURPOSE: Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CP..

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Owen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, Sandra E Staffieri, Lisa S Kearns, Kate Laurie, Abraham Kuot, Ayub Qassim, Thomas L Edwards, Michael A Coote, Erica Mancel, Mark J Walland, Joanne Dondey, Anna Galanopoulous, Robert J Casson, Richard A Mills, Daniel G MacArthur, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig

Journal article  |  2020  |  Clinical Genetics

Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associa..

Comparison between surgical outcomes of glaucoma drainage implant surgery performed with and without intraluminal stent.

Lingwei W Tao, Alp Atik, Hye J Kwon, Catherine Green, Michael Coote, Yu XG Kong, Jonathan B Ruddle

Journal article  |  2020  |  Clinical and Experimental Ophthalmology

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanathan, Giovanna Alfano, et al.

Journal article  |  2020  |  PLoS Genetics

Current estimates suggest 50% of glaucoma blindness worldwide is caused by primary angle-closure glaucoma (PACG) but the causative..

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Jamie E Craig, Xikun Han, Ayub Qassim, Mark Hassall, Jessica N Cooke Bailey, Tyler G Kinzy, Anthony P Khawaja, Jiyuan An, Henry Marshall, Puya Gharahkhani, Robert P Igo, Stuart L Graham, Paul R Healey, Jue-Sheng Ong, Tiger Zhou, Owen Siggs, Matthew H Law, Emmanuelle Souzeau, Bronwyn Ridge, Pirro G Hysi, et al.

Journal article  |  2020  |  Nature Genetics

The relative impact of monogenic and polygenic risk variants on age at glaucoma diagnosis

Owen Siggs, Emmanuelle Souzeau, Xikun Han, Ayub Qassim, Jonathan Ruddle, Andrea Vincent, Stephen Best, Robert Casson, Stuart Graham, Alex Hewitt, David Mackey, Stuart MacGregor, Jamie Craig

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Higher incidence of incisional glaucoma surgery in Mendelian vs non-Mendelian glaucoma

Shilpa Kuruvilla, Owen Siggs, Emmanuelle Souzeau, Jonathan Ruddle, Alex Hewitt, David Mackey, Stuart Macgregor, John Landers, Richard Mills, Jamie Craig

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

Owen M Siggs, Emmanuelle Souzeau, James Breen, Ayub Qassim, Tiger Zhou, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig

Journal article  |  2019  |  Molecular Vision

Purpose: Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure g..

Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa

Gabrielle McCray, Paul Griffin, Paul Martinello, Robb de Iongh, Jonathan Ruddle, Phil Robinson

Journal article  |  2019  |  Thorax

Previous reports suggested links between respiratory ciliary dysfunction and primary ciliopathies such as X-linked retinitis pigme..

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig

Journal article  |  2019  |  Molecular Genetics and Genomic Medicine