نتائج البحث - "Owen M. Siggs"

1

Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA

المؤلفون: Xikun Han, Alex W. Hewitt, Owen M. Siggs, Henry Marshall, Kaiah Steven, Jamie E Craig, Puya Gharahkhani, Michael Tremeer, Ayub Qassim, Cameron Bean, Stuart MacGregor, Jiyuan An, Maciej Trzaskowski

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Intraocular pressure, medicine.medical_specialty, genetic structures, Optic Disk, Inheritance Patterns, Disc diameter, Glaucoma, Genome-wide association study, Biology, Glaucomatous optic neuropathy, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Artificial Intelligence, Risk Factors, Normal tension glaucoma, Ophthalmology, Genetics, medicine, Image Processing, Computer-Assisted, Photography, Humans, Genetics (clinical), Intraocular Pressure, Aged, High rate, Middle Aged, medicine.disease, 030104 developmental biology, Optic nerve, Female, sense organs, Nerve Net, 030217 neurology & neurosurgery, Algorithms, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecbb57f3ae02681b146df2220a965378Test
https://europepmc.org/articles/PMC8322932Test/

2

Automated AI labelling of optic nerve head enables new insights into cross-ancestry glaucoma risk and genetic discovery in over 280,000 images from the UK Biobank and Canadian Longitudinal Study on Aging

المؤلفون: Puya Gharahkhani, Kaiah Steven, Henry Marshall, Stuart MacGregor, Jamie E Craig, Ayub Qassim, Xikun Han, Alex W. Hewitt, Maciej Trzaskowski, Jiyuan An, Owen M. Siggs, Cameron Bean, Michael Tremeer

مصطلحات موضوعية: High rate, Intraocular pressure, Longitudinal study, medicine.medical_specialty, genetic structures, business.industry, Glaucoma, Genome-wide association study, medicine.disease, Biobank, Normal tension glaucoma, Ophthalmology, Optic nerve, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8d6159138d75a37a9e9ab13563d9bd84Test
https://doi.org/10.1101/2020.11.03.367623Test

3

An intraocular pressure polygenic risk score stratifies multiple primary open angle glaucoma parameters including treatment intensity

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb3374a2232b46150302cf8fff8f902Test
https://eprints.soton.ac.uk/439365Test/

4

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease

المؤلفون: Peter Kraft, Adriana Iglesias, Steffen Uebe, Alberta A H J Thiadens, Jessica N. Cooke Bailey, Paul Mitchell, Olusola Olawoye, Michele Ramsay, Caroline C.W. Klaver, Eranga N. Vithana, Ayub Qassim, Mark James Simcoe, Pirro G. Hysi, Xin Wang, Angela J. Cree, Juha Karjalainen, René Höhn, Cornelia van Duijn, Andrew J. Lotery, Veronique Vitart, Anthony P Khawaja, Terri L. Young, James E. Morgan, UK Biobank Eye, Yukihiro Shiga, Owen M. Siggs, Yukihide Momozawa, Stephen Akafo, Puya Gharahkhani, Robert P. Igo, Masato Akiama, Gen Tamiya, Sarah A. Pendergrass, Navya Shilpa Josyula, Chris Hammond, David A. Mackey, FinnGen study, Chiea Chuen Khor, Francesca Pasutto, Ewan Birney, Pieter W.M. Bonnemaijer, Aarno Palotie, Susan E. Williams, John Rouhana, Nishani Amersinghe, Peng T. Khaw, Stuart MacGregor, Ching-Yu Cheng, Yoichito Kamatani, Calvin Chi Pui Pang, Xikun Han, Alex W. Hewitt, Louis R. Pasquale, Jae Hee Kang, Eric Jorgenson, Ronald B. Melles, Michael Hauser, Li Jia Chen, Jonathan Haines, Masayuki Yamamoto, Alicia Poplawski, Ayellet V. Segrè, Jue-Sheng Ong, Kazuki Hashimoto, Hélène Choquet, Hannah Currant, Jamie E. Craig, Robert Luben, Adam Auton, Tin Aung, Paul J. Foster, Toru Nakazawa, Nicholas G. Strouthidis, Michiaki Kubo, K. Saidas Nair, Janey L. Wiggs, Adeyinka O. Ashaye

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c722c6c7f99a49eed99cfe006e4a86a9Test
https://doi.org/10.1101/2020.01.30.927822Test

5

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

المؤلفون: Henry Marshall, Paul R. Healey, Stuart MacGregor, Paul Mitchell, Cornelia M. van Duijn, Tyler G. Kinzy, Nicholas H Andrew, Stephen Best, Angela J. Cree, Louis R. Pasquale, Xikun Han, Alex W. Hewitt, Andrea L Vincent, Robert J Casson, Christopher J Hammond, Jiyuan An, Paul J. Foster, Matthew Law, Tiger Zhou, Sobha Sivaprasad, Veronique Vitart, Mark M. Hassall, Peng T. Khaw, Francesca Pasutto, Andrew J. Lotery, Tin Aung, Robert P. Igo, Puya Gharahkhani, Kathryn P. Burdon, Nicholas G. Martin, Ashish Agar, Ivan Goldberg, Neeru A. Vallabh, Pirro G. Hysi, David A. Mackey, Jonathan B Ruddle, Colin E. Willoughby, John Landers, Jue-Sheng Ong, Ananth C. Viswanathan, Bronwyn Ridge, Anthony P Khawaja, Emmanuelle Souzeau, Grant W. Montgomery, Richard A. Mills, Jamie E Craig, Janey L. Wiggs, Jost B. Jonas, Caroline C W Klaver, Ayub Qassim, Graham L. Radford-Smith, Stuart L. Graham, Jonathan L. Haines, Andrew White, Anna Galanopoulos, Owen M. Siggs, Robert Wojciechowski, René Hoehn, Jessica N. Cooke Bailey

المساهمون: Ophthalmology, Epidemiology

المصدر: Nature Genetics, 52, 160-166
Nature Genetics, 52, 160-166. Nature Publishing Group
Nature Genetics, 52, 2, pp. 160-166
Nat Genet

مصطلحات موضوعية: Multifactorial Inheritance, medicine.medical_specialty, Intraocular pressure, Open angle glaucoma, genetic structures, medicine.medical_treatment, Population, Glaucoma, Penetrance, Trabeculectomy, Biology, Polymorphism, Single Nucleotide, Article, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetic model, Odds Ratio, Genetics, medicine, Glaucoma surgery, Humans, Genetic Predisposition to Disease, Eye Proteins, education, Intraocular Pressure, Myocilin, Glycoproteins, 030304 developmental biology, 0303 health sciences, education.field_of_study, Australia, Optic Nerve, medicine.disease, United Kingdom, United States, eye diseases, Cytoskeletal Proteins, Case-Control Studies, Disease Progression, sense organs, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::071d17d2dc58b404a5643decdfe36014Test
http://hdl.handle.net/2066/218893Test

6

Rare variants in optic disc area gene CARD 10 enriched in primary open‐angle glaucoma

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

المصدر: Molecular Genetics & Genomic Medicine. 4:624-633

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a84ed57549e4290c30ef2eef8ea09884Test
https://doi.org/10.1002/mgg3.248Test

7

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

المؤلفون: David C. Whiteman, Jessica N. Cooke Bailey, William K. Scott, Michael Coote, Ivan Goldberg, Mark J Walland, David J. Lynn, Paul R. Healey, Paul Mitchell, John Landers, Terry Gaasterland, Kathryn P. Burdon, Arthur J. Sit, Jonathan B Ruddle, Nicholas G. Martin, Douglas Vollrath, R. Rand Allingham, Richard K. Lee, Julia E. Richards, Yutao Liu, David A. Mackey, Kuldev Singh, Mitchell Lawlor, Doug Rhee, Stuart MacGregor, Jamie E Craig, Robert Ritch, Graham L. Radford-Smith, Donald L. Budenz, Murray H. Brilliant, Robert P. Igo, John R. Grigg, Robert J Casson, Janey L. Wiggs, Bronwyn Ridge, Stuart L. Graham, Stephen Best, Louis R. Pasquale, S.E. Moroi, Peter Kraft, Anthony Realini, Lisa A Hark, Mona S Awadalla, Gadi Wollstein, Jesse Gale, Donald J. Zack, Owen M. Siggs, Puya Gharahkhani, Andrea L Vincent, Tiger Zhou, Alex W. Hewitt, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michael A. Hauser, Shiwani Sharma, John H. Fingert, Andrew White, Grant W. Montgomery, Douglas E. Gaasterland, Paul R. Lichter, Richard A. Mills, Joel S. Schuman, Jae H. Kang, Matthew Law, Jonathan L. Haines

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Intraocular pressure, genetic structures, Optic disk, lcsh:Medicine, Muscle Proteins, Glaucoma, Genome-wide association study, 0302 clinical medicine, Risk Factors, lcsh:Science, Genetics, Multidisciplinary, LIM Domain Proteins, Middle Aged, Retinoic Acid 4-Hydroxylase, 3. Good health, Phenotype, Female, Glaucoma, Open-Angle, Genotype, Open angle glaucoma, Endophenotypes, LIM-Homeodomain Proteins, Optic Disk, Locus (genetics), Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, Tonometry, Ocular, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, gamma-Crystallins, Intraocular Pressure, Aged, lcsh:R, Calcium-Binding Proteins, Membrane Proteins, Macular degeneration, medicine.disease, eye diseases, 030104 developmental biology, Case-Control Studies, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Visual Fields, Genome-Wide Association Study, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51aa370db671dce4d05df4cd7c4455bTest
https://doi.org/10.1038/s41598-018-20435-9Test

8

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

المصدر: Investigative ophthalmologyvisual science. 58(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Time Factors, genetic structures, Open angle glaucoma, DNA Mutational Analysis, Glaucoma, Genome-wide association study, Locus (genetics), Protein Serine-Threonine Kinases, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Humans, Exome, Prospective Studies, Age of Onset, Eye Proteins, Exome sequencing, Genetics, business.industry, Incidence, Australia, DNA, medicine.disease, eye diseases, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Mendelian inheritance, symbols, Female, sense organs, Age of onset, business, Glaucoma, Open-Angle, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae7608b706631c8c95dfad3781074fdTest
https://pubmed.ncbi.nlm.nih.gov/28282485Test

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