Johanna L Jones

Years Active: 2021-2022
Publications (10 Years): 2

This page only lists publications with an associated author ORCID identifier.

Publications

Johanna L Jones, Bennet J McComish, Sandra E Staffieri, Emmanuelle Souzeau, Lisa S Kearns, James E Elder, Jac C Charlesworth, David A Mackey, Jonathan B Ruddle, Deepa Taranath, John Pater, Theresa Casey, Jamie E Craig, Kathryn P Burdon
Pathogenic genetic variants identified in Australian families with paediatric cataract. BMJ open ophthalmology 7 (1) (2022)
Johanna L Jones, Mark A Corbett, Elise Yeaman, Duran Zhao, Jozef Gecz, Robert J Gasperini, Jac C Charlesworth, David A Mackey, James E Elder, Jamie E Craig, Kathryn P Burdon
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract. European journal of human genetics : EJHG 29 (8) (2021)

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