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

المصدر: Wills Eye Hospital Papers

مصطلحات موضوعية: humans, peripherins, middle aged, adult, male, female, adolescent, retinal dystrophies, aged, visual acuity, child, young adult, electroretinography, preschool, phenotype, tomography, optical coherence, mutation, fluorescein angiography, genetic association studies, retrospective studies, DNA mutational analysis, DNA, pedigree, Genetics and Genomics

وصف الملف: application/pdf

Relation: https://jdc.jefferson.edu/willsfp/218; https://jdc.jefferson.edu/context/willsfp/article/1218/viewcontent/Retinal_Dystrophies_Associated_With_Peripherin_2.pdf; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/0/type/additional/viewcontent/Supplementary_Material_S1.pdf; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/1/type/additional/viewcontent/Supplementary_Material_S2.pdf; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/2/type/additional/viewcontent/Supplementary_Material_S3.pdf; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/3/type/additional/viewcontent/Supplementary_Material_S4.xlsx

الاتاحة: https://jdc.jefferson.edu/willsfp/218
https://jdc.jefferson.edu/context/willsfp/article/1218/viewcontent/Retinal_Dystrophies_Associated_With_Peripherin_2.pdf
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/0/type/additional/viewcontent/Supplementary_Material_S1.pdf
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/1/type/additional/viewcontent/Supplementary_Material_S2.pdf
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/2/type/additional/viewcontent/Supplementary_Material_S3.pdf
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/3/type/additional/viewcontent/Supplementary_Material_S4.xlsx

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

المساهمون: National Health and Medical Research Council, University of Melbourne, Department of Health

المصدر: Clinical and Experimental Optometry ; volume 107, issue 3, page 255-266 ; ISSN 0816-4622 1444-0938

الاتاحة: http://dx.doi.org/10.1080/08164622.2023.2294807
https://www.tandfonline.com/doi/pdf/10.1080/08164622.2023.2294807

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

المصدر: The American Journal of Human Genetics ; volume 110, issue 1, page 170-176 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.11.014
https://api.elsevier.com/content/article/PII:S0002929722005055?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722005055?httpAccept=text/plain

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

المصدر: Cornea ; volume 41, issue 8, page 1009-1015 ; ISSN 0277-3740

الاتاحة: http://dx.doi.org/10.1097/ico.0000000000003020
https://journals.lww.com/10.1097/ICO.0000000000003020

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

المصدر: Knight , L S W , Ruddle , J B , Taranath , D A , Goldberg , I , Smith , J E H , Gole , G , Chiang , M Y , Willett , F , D'Mellow , G , Breen , J , Qassim , A , Mullany , S , Elder , J E , Vincent , A L , Staffieri , S E , Kearns , L S , Mackey , D A , Luu , S , Siggs , O M , Souzeau , E & Craig , J E 2021 , ....

مصطلحات موضوعية: Childhood glaucoma, Early onset glaucoma, Genetic testing, Glaucoma, Glaucoma genetics

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/254555fd-2813-4ea0-a883-53fdacb35215
https://doi.org/10.1016/j.ophtha.2021.04.016
https://research-management.mq.edu.au/ws/files/199502810/Publisher_version_open_access_.pdf
http://www.scopus.com/inward/record.url?scp=85107332792&partnerID=8YFLogxK

المؤلفون: Kowalski, Tanya, Ruddle, Jonathan B, de Jong, Gerard, Mack, Heather G

المساهمون: funding

المصدر: Ophthalmic Genetics ; volume 42, issue 5, page 631-636 ; ISSN 1381-6810 1744-5094

الاتاحة: https://doi.org/10.1080/13816810.2021.1938141
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1938141

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

المصدر: The American Journal of Human Genetics ; volume 108, issue 11, page 2159-2170 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.09.015
https://api.elsevier.com/content/article/PII:S0002929721003517?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721003517?httpAccept=text/plain

المؤلفون: Macgregor, Stuart, Hewitt, Alex W, Hysi, Pirro G, Ruddle, Jonathan B, Medland, Sarah E, Henders, Anjali K, Gordon, Scott D, Andrew, Toby, McEvoy, Brian, Sanfilippo, Paul G, Carbonaro, Francis, Tah, Vikas, Li, Yi Ju, Bennett, Sonya L, Craig, Jamie E, Montgomery, Grant W, Tran-Viet, Khanh-Nhat, Brown, Nadean L, Spector, Timothy D, Martin, Nicholas G, Young, Terri L, Hammond, Christopher J, Mackey, David A

المصدر: Human Molecular Genetics. 19(13)

مصطلحات موضوعية: Eye Disease and Disorders of Vision, Neurosciences, Human Genome, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Aged, Aged, 80 and over, Australia, Basic Helix-Loop-Helix Transcription Factors, Blindness, Child, Child, Preschool, Genome-Wide Association Study, Humans, Membrane Proteins, Middle Aged, Optic Disk, Optic Nerve, Polymorphism, Single Nucleotide, Twins, United Kingdom, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/294404qj

المؤلفون: Britten-Jones, Alexis Ceecee, Schultz, Joshua, Mack, Heather G., Kearns, Lisa S., Huq, Aamira J., Ruddle, Jonathan B., Mackey, David A., Hewitt, Alex W., Edwards, Thomas L., Ayton, Lauren N.

المصدر: Scientific Reports; 3/5/2024, Vol. 14 Issue 1, p1-9, 9p

مصطلحات موضوعية: PATIENT experience, GENETIC testing, PATIENTS' attitudes, RETINAL diseases, GENETIC disorders

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

المصدر: Siggs , O M , Souzeau , E , Taranath , D A , Dubowsky , A , Chappell , A , Zhou , T , Javadiyan , S , Nicholl , J , Kearns , L S , Staffieri , S E , Narita , A , Smith , J E H , Pater , J , Hewitt , A W , Ruddle , J B , Elder , J E , Mackey , D A , Burdon , K P & Craig , J E 2020 , ' Biallelic CPAMD8 variants are a frequent cause of childhood ....

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/32e5230c-4c7f-4f46-8cdc-2a8f0642d0c8
https://doi.org/10.1016/j.ophtha.2019.12.024
https://research-management.mq.edu.au/ws/files/164698018/Publisher_version_open_access_.pdf
http://www.scopus.com/inward/record.url?scp=85079822898&partnerID=8YFLogxK
http://purl.org/au-research/grants/nhmrc/1023911
http://purl.org/au-research/grants/nhmrc/1107098

المؤلفون: Waseem, Naushin H., Low, Sancy, Shah, Amna Z., Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A., Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P., Ruddle, Jonathan B., Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J., Garway-Heath, David F., Khaw, Peng T., Bhattacharya, Shomi S., Waseem, Ahmad, Foster, Paul J.

المصدر: Waseem , N H , Low , S , Shah , A Z , Avisetti , D , Ostergaard , P , Simpson , M , Niemiec , K A , Martin-Martin , B , Aldehlawi , H , Usman , S , Lee , P S , Khawaja , A P , Ruddle , J B , Shah , A , Sackey , E , Day , A , Jiang , Y , Swinfield , G , Viswanathan , A , Alfano , G , Chakarova , C , Cordell , H J , Garway-Heath , D F ....

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/bf0032ff-0a37-4531-931c-63717d31219f
https://doi.org/10.1371/journal.pgen.1008721
http://www.scopus.com/inward/record.url?scp=85084147149&partnerID=8YFLogxK

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

المساهمون: National Ataxia Foundation, Ministero della Salute

المصدر: Acta Neuropathologica Communications ; volume 8, issue 1 ; ISSN 2051-5960

الاتاحة: http://dx.doi.org/10.1186/s40478-020-00975-w
https://link.springer.com/content/pdf/10.1186/s40478-020-00975-w.pdf
https://link.springer.com/article/10.1186/s40478-020-00975-w/fulltext.html

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

المصدر: Siggs , O M , Souzeau , E , Pasutto , F , Dubowsky , A , Smith , J E H , Taranath , D , Pater , J , Rait , J L , Narita , A , Mauri , L , Del Longo , A , Reis , A , Chappell , A , Kearns , L S , Staffieri , S E , Elder , J E , Ruddle , J B , Hewitt , A W , Burdon , K P , Mackey , D A & Craig , J E 2019 , ' ....

الاتاحة: https://researchers.mq.edu.au/en/publications/75839b3b-f7d7-4eea-9e56-b37e89a4db90
https://doi.org/10.1001/jamaophthalmol.2018.5646
http://www.scopus.com/inward/record.url?scp=85059556181&partnerID=8YFLogxK
http://purl.org/au-research/grants/nhmrc/1023911

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

المصدر: Han , X , Souzeau , E , Ong , J-S , An , J , Siggs , O M , Burdon , K P , Best , S , Goldberg , I , Healey , P R , Graham , S L , Ruddle , J B , Mills , R A , Landers , J , Galanopoulos , A , White , A J R , Casson , R , Mackey , D A , Hewitt , A W , Gharahkhani , P , Craig , J E & Macgregor , S 2019 , ' Myocilin gene ....

الاتاحة: https://researchers.mq.edu.au/en/publications/3f338406-baab-45c5-8c24-c31c4873a4d6
https://doi.org/10.1001/jamaophthalmol.2018.4477
http://www.scopus.com/inward/record.url?scp=85054179841&partnerID=8YFLogxK

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

المساهمون: National Health and Medical Research Council

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 8 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.774
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.774
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.774
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.774

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

المصدر: Clinical and Experimental Optometry ; volume 102, issue 3, page 300-308 ; ISSN 0816-4622 1444-0938

الاتاحة: http://dx.doi.org/10.1111/cxo.12909
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcxo.12909
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cxo.12909
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cxo.12909
https://www.tandfonline.com/doi/pdf/10.1111/cxo.12909

المؤلفون: Gharahkhani, Puya, Burdon, Kathryn Penelope, Cooke-Bailey, Jessica N, Hewitt, Alex W, Law, Matthew H, Pasquale, Louis R, Kang, Jae Hee, Haines, Jonathan L, Souzeau, Emmanuelle, Zhou, Tiger, Siggs, Owen M, Landers, John, Awadalla, Mona S, Sharma, Shiwani, Mills, Richard Arthur, Ridge, Bronwyn, Lynn, David J, Casson, Robert J, Graham, Stuart L, Goldberg, Ivan, White, Andrew J, Healey, Paul R, Grigg, John RB, Lawlor, Mitchell, Mitchell, Paul, Ruddle, Jonathan B, Coote, Michael A, Walland, Mark, Best, Stephen, Vincent, Andrea, Gale, Jesse, Radford-Smith, Graham, Whiteman, David C, Montgomery, Grant W, Martin, Nicholas G, Mackey, David A, Wiggs, Janey L, MacGregor, Stuart, Craig, Jamie E, Neighborhood Consortium

Relation: http://purl.org/au-research/grants/nhmrc/535074; http://purl.org/au-research/grants/nhmrc/1023911; http://purl.org/au-research/grants/nhmrc/1031362; http://purl.org/au-research/grants/nhmrc/1037838; http://purl.org/au-research/grants/nhmrc/1048037; http://purl.org/au-research/grants/nhmrc/1009844; http://purl.org/au-research/grants/nhmrc/1031920; http://purl.org/au-research/grants/nhmrc/199600; http://purl.org/au-research/grants/nhmrc/552429; http://purl.org/au-research/grants/nhmrc/241944; http://purl.org/au-research/grants/nhmrc/339462; http://purl.org/au-research/grants/nhmrc/389927; http://purl.org/au-research/grants/nhmrc/389875; http://purl.org/au-research/grants/nhmrc/389891; http://purl.org/au-research/grants/nhmrc/389892; http://purl.org/au-research/grants/nhmrc/389938; http://purl.org/au-research/grants/nhmrc/443036; http://purl.org/au-research/grants/nhmrc/442915; http://purl.org/au-research/grants/nhmrc/442981; http://purl.org/au-research/grants/nhmrc/496610; http://purl.org/au-research/grants/nhmrc/496739; http://purl.org/au-research/grants/nhmrc/552485; http://purl.org/au-research/grants/nhmrc/552498; http://purl.org/au-research/grants/nhmrc/1049472; http://purl.org/au-research/grants/nhmrc/1050208; NHMRC/535074; NHMRC/1023911; NHMRC/1031362; NHMRC/1037838; NHMRC/1048037; NHMRC/1009844; NHMRC/1031920; NHMRC/199600; NHMRC/552429; NHMRC/241944; NHMRC/339462; NHMRC/389927; NHMRC/389875; NHMRC/389891; NHMRC/389892; NHMRC/389938; NHMRC/443036; NHMRC/442915; NHMRC/442981; NHMRC/496610; NHMRC/496739; NHMRC/552485; NHMRC/552498; NHMRC/1049472; NHMRC/1050208; Gharahkhani, P., Burdon, K. P., Cooke Bailey, J. N., Hewitt, A. W., Law, M. H., … Craig, J. E. (2018). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Scientific Reports, 8(1). https://doi.org/10.1038/s41598-018-20435-9; http://hdl.handle.net/2328/37759; https://doi.org/10.1038/s41598-018-20435-9

الاتاحة: http://hdl.handle.net/2328/37759
https://doi.org/10.1038/s41598-018-20435-9

المؤلفون: Zhou, Tiger, Souzeau, Emmanuelle, Siggs, Owen M., Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., Macgregor, Stuart, Sharma, Shiwani, Burdon, Kathryn P., Craig, Jamie E.

المصدر: Zhou , T , Souzeau , E , Siggs , O M , Landers , J , Mills , R , Goldberg , I , Healey , P R , Graham , S , Hewitt , A W , Mackey , D A , Galanopoulos , A , Casson , R J , Ruddle , J B , Ellis , J , Leo , P , Brown , M A , Macgregor , S , Sharma , S , Burdon , K P & Craig , J E 2017 , ' Contribution of mutations in known mendelian glaucoma genes ....

مصطلحات موضوعية: exome sequencing, OPTN, CYP1B1, LTBP2, MYOC

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/dc9595c4-0c68-442b-bf64-017a8f2ef485
https://doi.org/10.1167/iovs.16-21049
https://research-management.mq.edu.au/ws/files/85975559/i1552_5783_58_3_1537.pdf
http://www.scopus.com/inward/record.url?scp=85015263112&partnerID=8YFLogxK

المؤلفون: Souzeau, Emmanuelle, Siggs, Owen M., Zhou, Tiger, Galanopoulos, Anna, Hodson, Trevor, Taranath, Deepa, Mills, Richard A., Landers, John, Pater, John, Smith, James E., Elder, James E., Rait, Julian L., Giles, Paul, Phakey, Vivek, Staffieri, Sandra E., Kearns, Lisa S., Dubowsky, Andrew, MacKey, David A., Hewitt, Alex W., Ruddle, Jonathan B., Burdon, Kathryn P., Craig, Jamie E.

المصدر: Souzeau , E , Siggs , O M , Zhou , T , Galanopoulos , A , Hodson , T , Taranath , D , Mills , R A , Landers , J , Pater , J , Smith , J E , Elder , J E , Rait , J L , Giles , P , Phakey , V , Staffieri , S E , Kearns , L S , Dubowsky , A , MacKey , D A , Hewitt , A W , Ruddle , J B , Burdon , K P & Craig , J E ....

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/3e2b19e0-60a3-4aea-bdb9-611e93580681
https://doi.org/10.1038/ejhg.2017.59
https://research-management.mq.edu.au/ws/files/84465477/ejhg201759.pdf
http://www.scopus.com/inward/record.url?scp=85019665508&partnerID=8YFLogxK

المؤلفون: Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Lynn, David J., Burdon, Kathryn P., Craig, Jamie E.

المساهمون: Hejtmancik, James Fielding

المصدر: PLOS ONE ; volume 12, issue 3, page e0172427 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0172427
http://dx.plos.org/10.1371/journal.pone.0172427