Jonathan B Ruddle

Affiliations

Centre for Eye Research, East Melbourne, Australia.
Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.

Publications (23)

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

Acta neuropathologica communications

Avec: Valentina Baderna , Joshua Schultz , Lisa S Kearns , Michael Fahey , Bryony A Thompson , Jonathan B Ruddle , Aamira Huq , Francesca Maltecca

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

Molecular genetics & genomic medicine

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

Parent satisfaction and acceptability of telehealth consultations in pediatric ophthalmology: initial experience during the COVID-19 pandemic.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Avec: Sandra E Staffieri , Anu A Mathew , Shivanand J Sheth , Jonathan B Ruddle , James E Elder

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

Ophthalmology

Avec: 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 E H Smith , John Pater , Alex W Hewitt , Jonathan B Ruddle , James E Elder , David A Mackey , Kathryn P Burdon , Jamie E Craig

Optical coherence tomography in paediatric clinical practice.

Clinical & experimental optometry

Avec: Katia A Maccora , Shivanand Sheth , Jonathan B Ruddle

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.

Ophthalmology

Avec: Lachlan S W Knight , Jonathan B Ruddle , Deepa A Taranath , Ivan Goldberg , James E H Smith , Glen Gole , Mark Y Chiang , Faren Willett , Guy D'Mellow , James Breen , Ayub Qassim , Sean Mullany , James E Elder , Andrea L Vincent , Sandra E Staffieri , Lisa S Kearns , David A Mackey , Susie Luu , Owen M Siggs , Emmanuelle Souzeau , Jamie E Craig

Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy.

Clinical genitourinary cancer

Avec: Elizabeth Liow , Nicholas Howard , Chol-Hee Jung , Bernard Pope , Bethany K Campbell , Anne Nguyen , Michael Kerger , Jonathan B Ruddle , Angelyn Anton , Benjamin Thomas , Kevin Chu , Philip Dundee , Justin S Peters , Anthony J Costello , Andrew S Ryan , Christopher M Hovens , Ben Tran , Niall M Corcoran

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

American journal of human genetics

Avec: David A Mackey , Jue-Sheng Ong , Stuart MacGregor , David C Whiteman , Jamie E Craig , M Isabel G Lopez Sanchez , Lisa S Kearns , Sandra E Staffieri , Linda Clarke , Myra B McGuinness , Wafaa Meteoukki , Sona Samuel , Jonathan B Ruddle , Celia Chen , Clare L Fraser , John Harrison , Neil Howell , Alex W Hewitt

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.

Scientific reports

Avec: 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

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

Molecular vision

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

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

Nature genetics

Avec: 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 , Kathryn P Burdon , Richard A Mills , John Landers , Jonathan B Ruddle , Ashish Agar , Anna Galanopoulos , Andrew J R White , Colin E Willoughby , Nicholas H Andrew , Stephen Best , Andrea L Vincent , Ivan Goldberg , Graham Radford-Smith , Nicholas G Martin , Grant W Montgomery , Veronique Vitart , Rene Hoehn , Robert Wojciechowski , Jost B Jonas , Tin Aung , Louis R Pasquale , Angela Jane Cree , Sobha Sivaprasad , Neeru A Vallabh , Auteur inconnu , Auteur inconnu , Ananth C Viswanathan , Francesca Pasutto , Jonathan L Haines , Caroline C W Klaver , Cornelia M van Duijn , Robert J Casson , Paul J Foster , Peng Tee Khaw , Christopher J Hammond , David A Mackey , Paul Mitchell , Andrew J Lotery , Janey L Wiggs , Alex W Hewitt , Stuart MacGregor

Establishing risk of vision loss in Leber hereditary optic neuropathy.

American journal of human genetics

Avec: M Isabel G Lopez Sanchez , Lisa S Kearns , Sandra E Staffieri , Linda Clarke , Myra B McGuinness , Wafaa Meteoukki , Sona Samuel , Jonathan B Ruddle , Celia Chen , Clare L Fraser , John Harrison , Alex W Hewitt , Neil Howell , David A Mackey

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Cornea

Avec: Mallika Prem Senthil , Lachlan S W Knight , Deepa Taranath , David A Mackey , Jonathan B Ruddle , Mark Y Chiang , Owen M Siggs , Emmanuelle Souzeau , Jamie E Craig

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

PLoS genetics

Avec: 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 , Christina Chakarova , Heather J Cordell , David F Garway-Heath , Peng T Khaw , Shomi S Bhattacharya , Ahmad Waseem , Paul J Foster

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

Clinical genetics

Avec: 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

Pathogenic genetic variants identified in Australian families with paediatric cataract.

BMJ open ophthalmology

Avec: 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

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

JAMA ophthalmology

Avec: Owen M Siggs , Emmanuelle Souzeau , Francesca Pasutto , Andrew Dubowsky , James E H Smith , Deepa Taranath , John Pater , Julian L Rait , Andrew Narita , Lucia Mauri , Alessandra Del Longo , André Reis , Angela Chappell , Lisa S Kearns , Sandra E Staffieri , James E Elder , Jonathan B Ruddle , Alex W Hewitt , Kathryn P Burdon , David A Mackey , Jamie E Craig

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

JAMA ophthalmology

Avec: Xikun Han , Emmanuelle Souzeau , Jue-Sheng Ong , Jiyuan An , Owen M Siggs , Kathryn P Burdon , Stephen Best , Ivan Goldberg , Paul R Healey , Stuart L Graham , Jonathan B Ruddle , Richard A Mills , John Landers , Anna Galanopoulos , Andrew J R White , Robert Casson , David A Mackey , Alex W Hewitt , Puya Gharahkhani , Jamie E Craig , Stuart MacGregor

Optical coherence tomography in children with inherited retinal disease.

Clinical & experimental optometry

Avec: Jasleen K Jolly , Brent M Rodda , Thomas L Edwards , Lauren N Ayton , Jonathan B Ruddle

The phenotypic spectrum of

Molecular vision

Avec: Lachlan S W Knight , Sean Mullany , Deepa A Taranath , Jonathan B Ruddle , Christopher P Barnett , Suzanne C E H Sallevelt , Ella C Berry , Henry N Marshall , Georgina L Hollitt , Emmanuelle Souzeau , Jamie E Craig , Owen M Siggs

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.

Disease models & mechanisms

Avec: 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

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

The Journal of clinical investigation

Avec: Haojie Fu , Owen M Siggs , Lachlan Sw Knight , Sandra E Staffieri , Jonathan B Ruddle , Amy E Birsner , Edward Ryan Collantes , Jamie E Craig , Janey L Wiggs , Robert J D'Amato

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Investigative ophthalmology & visual science

Avec: Rachael C Heath Jeffery , Jennifer A Thompson , Johnny Lo , Enid S Chelva , Sean Armstrong , Jose S Pulido , Rebecca Procopio , Andrea L Vincent , Lorenzo Bianco , Maurizio Battaglia Parodi , Lucia Ziccardi , Giulio Antonelli , Lucilla Barbano , João P Marques , Sara Geada , Ana L Carvalho , Wei C Tang , Choi M Chan , Camiel J F Boon , Jonathan Hensman , Ta-Ching Chen , Chien-Yu Lin , Pei-Lung Chen , Ajoy Vincent , Anupreet Tumber , Elise Heon , John R Grigg , Robyn V Jamieson , Elisa E Cornish , Benjamin M Nash , Shyamanga Borooah , Lauren N Ayton , Alexis Ceecee Britten-Jones , Thomas L Edwards , Jonathan B Ruddle , Abhishek Sharma , Rowan G Porter , Tina M Lamey , Terri L McLaren , Samuel McLenachan , Danial Roshandel , Fred K Chen

Réseau de co-auteurs

Jamie E Craig 13 collaborations

Emmanuelle Souzeau 11 collaborations

David A Mackey 10 collaborations

Lisa S Kearns 9 collaborations

Sandra E Staffieri 9 collaborations

Owen M Siggs 9 collaborations

Alex W Hewitt 8 collaborations

Kathryn P Burdon 6 collaborations

James E Elder 5 collaborations

Andrew Dubowsky 4 collaborations

Ayub Qassim 4 collaborations

Thomas L Edwards 4 collaborations

Deepa A Taranath 3 collaborations

Tiger Zhou 3 collaborations

James E H Smith 3 collaborations

John Pater 3 collaborations

Lachlan S W Knight 3 collaborations

Ivan Goldberg 3 collaborations

Andrea L Vincent 3 collaborations

Jue-Sheng Ong 3 collaborations

Stuart MacGregor 3 collaborations

Lauren N Ayton 3 collaborations

Richard A Mills 3 collaborations

Deepa Taranath 3 collaborations

Joshua Schultz 2 collaborations

Angela Chappell 2 collaborations

Andrew Narita 2 collaborations

Mark Y Chiang 2 collaborations

James Breen 2 collaborations

Sean Mullany 2 collaborations

M Isabel G Lopez Sanchez 2 collaborations

Linda Clarke 2 collaborations

Myra B McGuinness 2 collaborations

Wafaa Meteoukki 2 collaborations

Sona Samuel 2 collaborations

Celia Chen 2 collaborations

Clare L Fraser 2 collaborations

John Harrison 2 collaborations

Neil Howell 2 collaborations

Alexis Ceecee Britten-Jones 2 collaborations

Xikun Han 2 collaborations

Anthony P Khawaja 2 collaborations

Jiyuan An 2 collaborations

Puya Gharahkhani 2 collaborations

Stuart L Graham 2 collaborations

Paul R Healey 2 collaborations

John Landers 2 collaborations

Anna Galanopoulos 2 collaborations

Andrew J R White 2 collaborations

Stephen Best 2 collaborations

None None 2 collaborations

Francesca Pasutto 2 collaborations

Robert J Casson 2 collaborations

Paul J Foster 2 collaborations

Janey L Wiggs 2 collaborations

Valentina Baderna 1 collaboration

Michael Fahey 1 collaboration

Bryony A Thompson 1 collaboration

Aamira Huq 1 collaboration

Francesca Maltecca 1 collaboration

Anu A Mathew 1 collaboration

Shivanand J Sheth 1 collaboration

Shari Javadiyan 1 collaboration

Jillian Nicholl 1 collaboration

Katia A Maccora 1 collaboration

Shivanand Sheth 1 collaboration

Glen Gole 1 collaboration

Faren Willett 1 collaboration

Guy D'Mellow 1 collaboration

Susie Luu 1 collaboration

Elizabeth Liow 1 collaboration

Nicholas Howard 1 collaboration

Chol-Hee Jung 1 collaboration

Bernard Pope 1 collaboration

Bethany K Campbell 1 collaboration

Anne Nguyen 1 collaboration

Michael Kerger 1 collaboration

Angelyn Anton 1 collaboration

Benjamin Thomas 1 collaboration

Kevin Chu 1 collaboration

Philip Dundee 1 collaboration

Justin S Peters 1 collaboration

Anthony J Costello 1 collaboration

Andrew S Ryan 1 collaboration

Christopher M Hovens 1 collaboration

Ben Tran 1 collaboration

Niall M Corcoran 1 collaboration

David C Whiteman 1 collaboration

Heather G Mack 1 collaboration

Aamira J Huq 1 collaboration

Mark Hassall 1 collaboration

Jessica N Cooke Bailey 1 collaboration

Tyler G Kinzy 1 collaboration

Henry Marshall 1 collaboration

Robert P Igo 1 collaboration

Owen Siggs 1 collaboration

Matthew H Law 1 collaboration

Bronwyn Ridge 1 collaboration

Pirro G Hysi 1 collaboration

Ashish Agar 1 collaboration

Colin E Willoughby 1 collaboration

Nicholas H Andrew 1 collaboration

Graham Radford-Smith 1 collaboration

Nicholas G Martin 1 collaboration

Grant W Montgomery 1 collaboration

Veronique Vitart 1 collaboration

Rene Hoehn 1 collaboration

Robert Wojciechowski 1 collaboration

Jost B Jonas 1 collaboration

Tin Aung 1 collaboration

Louis R Pasquale 1 collaboration

Angela Jane Cree 1 collaboration

Sobha Sivaprasad 1 collaboration

Neeru A Vallabh 1 collaboration

Ananth C Viswanathan 1 collaboration

Jonathan L Haines 1 collaboration

Caroline C W Klaver 1 collaboration

Cornelia M van Duijn 1 collaboration

Peng Tee Khaw 1 collaboration

Christopher J Hammond 1 collaboration

Paul Mitchell 1 collaboration

Andrew J Lotery 1 collaboration

Mallika Prem Senthil 1 collaboration

Naushin H Waseem 1 collaboration

Sancy Low 1 collaboration

Amna Z Shah 1 collaboration

Deepa Avisetti 1 collaboration

Pia Ostergaard 1 collaboration

Michael Simpson 1 collaboration

Katarzyna A Niemiec 1 collaboration

Belen Martin-Martin 1 collaboration

Hebah Aldehlawi 1 collaboration

Saima Usman 1 collaboration

Pak Sang Lee 1 collaboration

Ameet Shah 1 collaboration

Ege Sackey 1 collaboration

Alexander Day 1 collaboration

Yuzhen Jiang 1 collaboration

Geoff Swinfield 1 collaboration

Ananth Viswanathan 1 collaboration

Giovanna Alfano 1 collaboration

Christina Chakarova 1 collaboration

Heather J Cordell 1 collaboration

David F Garway-Heath 1 collaboration

Peng T Khaw 1 collaboration

Shomi S Bhattacharya 1 collaboration

Ahmad Waseem 1 collaboration

Mona S Awadalla 1 collaboration

Kate Laurie 1 collaboration

Abraham Kuot 1 collaboration

Michael A Coote 1 collaboration

Erica Mancel 1 collaboration

Mark J Walland 1 collaboration

Joanne Dondey 1 collaboration

Anna Galanopoulous 1 collaboration

Daniel G MacArthur 1 collaboration

Johanna L Jones 1 collaboration

Bennet J McComish 1 collaboration

Jac C Charlesworth 1 collaboration

Theresa Casey 1 collaboration

Julian L Rait 1 collaboration

Lucia Mauri 1 collaboration

Alessandra Del Longo 1 collaboration

André Reis 1 collaboration

Robert Casson 1 collaboration

Jasleen K Jolly 1 collaboration

Brent M Rodda 1 collaboration

Christopher P Barnett 1 collaboration

Suzanne C E H Sallevelt 1 collaboration

Ella C Berry 1 collaboration

Henry N Marshall 1 collaboration

Georgina L Hollitt 1 collaboration

Sueanne Chear 1 collaboration

Sharn Perry 1 collaboration

Richard Wilson 1 collaboration

Aidan Bindoff 1 collaboration

Jana Talbot 1 collaboration

Tyson L Ware 1 collaboration

Alexandra Grubman 1 collaboration

James C Vickers 1 collaboration

Alice Pébay 1 collaboration

Anna E King 1 collaboration

Anthony L Cook 1 collaboration

Haojie Fu 1 collaboration

Lachlan Sw Knight 1 collaboration

Amy E Birsner 1 collaboration

Edward Ryan Collantes 1 collaboration

Robert J D'Amato 1 collaboration

Rachael C Heath Jeffery 1 collaboration

Jennifer A Thompson 1 collaboration

Johnny Lo 1 collaboration

Enid S Chelva 1 collaboration

Sean Armstrong 1 collaboration

Jose S Pulido 1 collaboration

Rebecca Procopio 1 collaboration

Lorenzo Bianco 1 collaboration

Maurizio Battaglia Parodi 1 collaboration

Lucia Ziccardi 1 collaboration

Giulio Antonelli 1 collaboration

Lucilla Barbano 1 collaboration

João P Marques 1 collaboration

Sara Geada 1 collaboration

Ana L Carvalho 1 collaboration

Wei C Tang 1 collaboration

Choi M Chan 1 collaboration

Camiel J F Boon 1 collaboration

Jonathan Hensman 1 collaboration

Ta-Ching Chen 1 collaboration

Chien-Yu Lin 1 collaboration

Pei-Lung Chen 1 collaboration

Ajoy Vincent 1 collaboration

Anupreet Tumber 1 collaboration

Elise Heon 1 collaboration

John R Grigg 1 collaboration

Robyn V Jamieson 1 collaboration

Elisa E Cornish 1 collaboration

Benjamin M Nash 1 collaboration

Shyamanga Borooah 1 collaboration

Abhishek Sharma 1 collaboration

Rowan G Porter 1 collaboration

Tina M Lamey 1 collaboration

Terri L McLaren 1 collaboration

Samuel McLenachan 1 collaboration

Danial Roshandel 1 collaboration

Fred K Chen 1 collaboration