检索结果 - Jonathan B. Ruddle

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  1. 1

    Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion 由 Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig

    发表在 Molecular Genetics & Genomic Medicine (2019-08-01)
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  2. 2

    Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes 由 Jonathan B Ruddle, Lauren Ayton, Abdullah Shahzad, Sena Ayse Gocuk, Rosie Claire Hewitt Dawkins

    发表在 BMJ Open Ophthalmology (2025-05-01)
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  3. 3

    Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey 由 Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G. Mack, Lisa S. Kearns, Aamira J. Huq, Jonathan B. Ruddle, David A. Mackey, Alex W. Hewitt, Thomas L. Edwards, Lauren N. Ayton

    发表在 Scientific Reports (2024-03-01)
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  4. 4

    Three-year outcomes of a multidisciplinary ocular genetics clinic: Diagnostic yield and workflow insights from an Australian tertiary center 由 Sujan A. Surendran, Sena A. Gocuk, Aamira J. Huq, Alex W. Hewitt, Thomas G. Campbell, Doron G. Hickey, Lisa Kearns, Joshua Schulz, Thomas L. Edwards, Jonathan B. Ruddle, Lauren N. Ayton

    发表在 AJO International (2025-10-01)
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  5. 5

    Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma 由 Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato

    发表在 The Journal of Clinical Investigation (2022-12-01)
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  6. 6

    Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons 由 Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook

    发表在 Disease Models & Mechanisms (2022-12-01)
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  7. 7

    Pathogenic genetic variants identified in Australian families with paediatric cataract 由 David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey

    发表在 BMJ Open Ophthalmology (2022-10-01)
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  8. 8

    Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. 由 Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle

    发表在 PLoS ONE (2014-01-01)
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