المؤلفون: Reis, A.L.M., Rapadas, M., Hammond, J.M., Gamaarachchi, H., Stevanovski, I., Ayuputeri Kumaheri, M., Chintalaphani, S.R., Dissanayake, D.S.B., Siggs, O.M., Hewitt, A.W., Llamas, B., Brown, A., Baynam, G., Mann, G.J., McMorran, B.J., Easteal, S., Hermes, A., Jenkins, M.R., National Centre for Indigenous Genomics, Patel, H.R.

المصدر: http://dx.doi.org/10.1038/s41586-023-06842-7Test.

مصطلحات موضوعية: Genetic variation, Medical genomics, Next-generation sequencing, Structural variation, Humans, Genetics, Medical, Genomics, Interspersed Repetitive Sequences, Microsatellite Repeats, Alleles, Genome, Human, Australia, INDEL Mutation, Genetic Loci, Genomic Structural Variation, DNA Copy Number Variations, Datasets as Topic, Australian Aboriginal and Torres Strait Islander Peoples

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/2011277Test; http://purl.org/au-research/grants/nhmrc/2021172Test; Nature, 2023; 624(7992):602-610; https://hdl.handle.net/2440/140525Test; Llamas, B. [0000-0002-5550-9176]; Brown, A. [0000-0003-2112-3918]

الإتاحة: https://doi.org/10.1038/s41586-023-06842-7Test
https://hdl.handle.net/2440/140525Test

المؤلفون: Hassall, M.M., Javadiyan, S., Klebe, S., Awadalla, M.S., Sharma, S., Qassim, A., White, M., Thomas, P.Q., Craig, J.E., Siggs, O.M.

المصدر: http://dx.doi.org/10.1038/s41598-023-37855-xTest.

مصطلحات موضوعية: Fundus Oculi, Animals, Humans, Mice, Microphthalmos, Glaucoma, Angle-Closure, Hyperopia, Membrane Proteins, Phenotype

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1116360Test; Scientific Reports, 2023; 13(1):11017-1-11017-7; https://hdl.handle.net/2440/139119Test; Hassall, M.M. [0000-0002-6180-7954]; White, M. [0000-0002-8748-9210]

الإتاحة: https://doi.org/10.1038/s41598-023-37855-xTest
https://hdl.handle.net/2440/139119Test

المؤلفون: Souzeau, E., Siggs, O.M., Mullany, S., Schmidt, J.M., Hassall, M.M., Dubowsky, A., Chappell, A., Breen, J., Bae, H., Nicholl, J., Hadler, J., Kearns, L.S., Staffieri, S.E., Hewitt, A.W., Mackey, D.A., Gupta, A., Burdon, K.P., Klebe, S., Craig, J.E., Mills, R.A.

المصدر: http://dx.doi.org/10.1002/mgg3.2023Test.

مصطلحات موضوعية: corneal dystrophy, genetic testing, molecular diagnosis, TGFBI

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/GNT1116360Test; http://purl.org/au-research/grants/nhmrc/GNT1154824Test; Molecular Genetics and Genomic Medicine, 2022; 10(10):1-15; https://hdl.handle.net/2440/136445Test; Schmidt, J.M. [0000-0002-5862-7389]; Hassall, M.M. [0000-0002-6180-7954]; Breen, J. [0000-0001-6184-0925]

الإتاحة: https://doi.org/10.1002/mgg3.2023Test
https://hdl.handle.net/2440/136445Test

المؤلفون: Mullany, S., Xiao, L., Qassim, A., Marshall, H., Gharahkhani, P., Macgregor, S., Hassall, M.M., Siggs, O.M., Souzeau, E., Craig, J.E.

المصدر: http://dx.doi.org/10.1136/bjophthalmol-2020-317461Test.

مصطلحات موضوعية: Optic Disk, Humans, Dementia, Glaucoma, Open-Angle, Cross-Sectional Studies, Intraocular Pressure, Visual Fields, Australia, Low Tension Glaucoma, Visual Field Tests, Cognitive Dysfunction

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1116360Test; http://purl.org/au-research/grants/nhmrc/1157571Test; British Journal of Ophthalmology, 2022; 106(7):952-956; https://hdl.handle.net/2440/135447Test; Hassall, M.M. [0000-0002-6180-7954]

الإتاحة: https://doi.org/10.1136/bjophthalmol-2020-317461Test
https://hdl.handle.net/2440/135447Test

المؤلفون: Mullany, S., Souzeau, E., Klebe, S., Zhou, T., Knight, L., Qassim, A., Berry, E., Marshall, H., Hussey, M., Dubowsky, A., Breen, J., Hassall, M., Mills, R.A., Craig, J.E., Siggs, O.M.

المساهمون: The Association for Research in Vision & Ophthalmology Annual Meeting (ARVO) (1 May 2021 - 7 May 2021 : virtual online)

المصدر: https://iovs.arvojournals.org/article.aspx?articleid=2774606Test.

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1550144Test; http://purl.org/au-research/grants/nhmrc/1157571Test; Investigative Ophthalmology and Visual Science, 2021, vol.62, iss.8, pp.1499-1-1499-3; https://hdl.handle.net/2440/134815Test; Breen, J. [0000-0001-6184-0925]; Hassall, M. [0000-0002-6180-7954]

الإتاحة: https://hdl.handle.net/2440/134815Test

المؤلفون: Gharahkhani, P., Jorgenson, E., Hysi, P., Khawaja, A.P., Pendergrass, S., Han, X., Ong, J.S., Hewitt, A.W., Segrè, A.V., Rouhana, J.M., Hamel, A.R., Igo, R.P., Choquet, H., Qassim, A., Josyula, N.S., Cooke Bailey, J.N., Bonnemaijer, P.W.M., Iglesias, A., Siggs, O.M., Young, T.L.

المصدر: http://dx.doi.org/10.1038/s41467-020-20851-4Test.

مصطلحات موضوعية: Polymorphism, Single Nucleotide

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1107098Test; http://purl.org/au-research/grants/nhmrc/1116360Test; http://purl.org/au-research/grants/nhmrc/1116495Test; http://purl.org/au-research/grants/nhmrc/1023911Test; http://purl.org/au-research/grants/nhmrc/1173390Test; Nature Communications, 2021; 12(1):1258-1-1258-16; https://hdl.handle.net/2440/133337Test; Casson, R.J. [0000-0003-2822-4076]

الإتاحة: https://doi.org/10.1038/s41467-020-20851-4Test
https://hdl.handle.net/2440/133337Test

المؤلفون: Qassim, A., Souzeau, E., Hollitt, G., Hassall, M.M., Siggs, O.M., Craig, J.E.

المصدر: http://dx.doi.org/10.1167/tvst.10.6.14Test.

مصطلحات موضوعية: Polygenic risk scores, risk prediction, common complex disease, GWAS

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1150144Test; http://purl.org/au-research/grants/nhmrc/1147571Test; Translational Vision Science and Technology, 2021; 10(6):1-14; http://hdl.handle.net/2440/131150Test; Hassall, M.M. [0000-0002-6180-7954]

الإتاحة: https://doi.org/10.1167/tvst.10.6.14Test
http://hdl.handle.net/2440/131150Test

المؤلفون: Souzeau, E., Siggs, O.M., Pasutto, F., Knight, L.S.W., Perez-Jurado, L.A., McGregor, L., Le Blanc, S., Barnett, C.P., Liebelt, J., Craig, J.E.

المصدر: http://dx.doi.org/10.1002/ajmg.a.61982Test.

مصطلحات موضوعية: Axenfeld-Rieger syndrome, FOXC1, PITX2, facial dysmorphism

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1116360Test; http://purl.org/au-research/grants/nhmrc/1154824Test; American Journal of Medical Genetics Part A, 2020; 185(2):434-439; http://hdl.handle.net/2440/130083Test; Perez-Jurado, L.A. [0000-0002-1988-3005]; Barnett, C.P. [0000-0003-1717-3824]

الإتاحة: https://doi.org/10.1002/ajmg.a.61982Test
http://hdl.handle.net/2440/130083Test

المؤلفون: White, S., Taranath, A., Hanagandi, P., Taranath, D.A., To, M.-S., Souzeau, E., Siggs, O.M., Craig, J.E.

المصدر: http://dx.doi.org/10.3174/ajnr.a7995Test.

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1116360Test; http://purl.org/au-research/grants/nhmrc/1154824Test; American Journal of Neuroradiology, 2023; 44(10):1231-1235; https://hdl.handle.net/2440/139483Test

الإتاحة: https://doi.org/10.3174/ajnr.A7995Test
https://doi.org/10.3174/ajnr.a7995Test
https://hdl.handle.net/2440/139483Test

المؤلفون: Siggs, O.M., Qassim, A., Han, X., Marshall, H.N., Mullany, S., He, W., Souzeau, E., Galanopoulos, A., Agar, A., Landers, J., Casson, R.J., Hewitt, A.W., Healey, P.R., Graham, S.L., MacGregor, S., Craig, J.E.

المصدر: http://dx.doi.org/10.1001/jamaophthalmol.2022.4688Test.

مصطلحات موضوعية: Genetics and Genomics, Ophthalmology, Glaucoma

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1147571Test; JAMA Ophthalmology, 2023; 141(1):73-77; https://hdl.handle.net/2440/137061Test; Casson, R.J. [0000-0003-2822-4076]

الإتاحة: https://doi.org/10.1001/jamaophthalmol.2022.4688Test
https://hdl.handle.net/2440/137061Test