Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Making glaucoma genetic studies more diverse.

Mackey, David A; Staffieri, Sandra E.

Cell ; 187(2): 273-275, 2024 01 18.

Artigo em Inglês | MEDLINE | ID: mdl-38242084

2.

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.

Greatbatch, Connor J; Lu, Qinyi; Hung, Sandy; Barnett, Alexander J; Wing, Kristof; Liang, Helena; Han, Xikun; Zhou, Tiger; Siggs, Owen M; Mackey, David A; Cook, Anthony L; Senabouth, Anne; Liu, Guei-Sheung; Craig, Jamie E; MacGregor, Stuart; Powell, Joseph E; Hewitt, Alex W.

Hum Mol Genet ; 33(9): 739-751, 2024 Apr 18.

Artigo em Inglês | MEDLINE | ID: mdl-38272457

3.

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

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.

Am J Hum Genet ; 110(1): 170-176, 2023 01 05.

Artigo em Inglês | MEDLINE | ID: mdl-36565701

4.

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Tischfield, Max A; Baris, Hagit N; Wu, Chen; Rudolph, Guenther; Van Maldergem, Lionel; He, Wei; Chan, Wai-Man; Andrews, Caroline; Demer, Joseph L; Robertson, Richard L; Mackey, David A; Ruddle, Jonathan B; Bird, Thomas D; Gottlob, Irene; Pieh, Christina; Traboulsi, Elias I; Pomeroy, Scott L; Hunter, David G; Soul, Janet S; Newlin, Anna; Sabol, Louise J; Doherty, Edward J; de Uzcátegui, Clara E; de Uzcátegui, Nicolas; Collins, Mary Louise Z; Sener, Emin C; Wabbels, Bettina; Hellebrand, Heide; Meitinger, Thomas; de Berardinis, Teresa; Magli, Adriano; Schiavi, Costantino; Pastore-Trossello, Marco; Koc, Feray; Wong, Agnes M; Levin, Alex V; Geraghty, Michael T; Descartes, Maria; Flaherty, Maree; Jamieson, Robyn V; Møller, H U; Meuthen, Ingo; Callen, David F; Kerwin, Janet; Lindsay, Susan; Meindl, Alfons; Gupta, Mohan L; Pellman, David; Engle, Elizabeth C.

Cell ; 140(1): 74-87, 2010 Jan 08.

Artigo em Inglês | MEDLINE | ID: mdl-20074521

5.

Establishing risk of vision loss in Leber hereditary optic neuropathy.

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.

Am J Hum Genet ; 108(11): 2159-2170, 2021 11 04.

Artigo em Inglês | MEDLINE | ID: mdl-34670133

6.

Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration.

He, Weixiong; Han, Xikun; Ong, Jue-Sheng; Wu, Yeda; Hewitt, Alex W; Mackey, David A; Gharahkhani, Puya; MacGregor, Stuart.

Ophthalmology ; 131(1): 16-29, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-37634759

7.

Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

Currant, Hannah; Hysi, Pirro; Fitzgerald, Tomas W; Gharahkhani, Puya; Bonnemaijer, Pieter W M; Senabouth, Anne; Hewitt, Alex W; Atan, Denize; Aung, Tin; Charng, Jason; Choquet, Hélène; Craig, Jamie; Khaw, Peng T; Klaver, Caroline C W; Kubo, Michiaki; Ong, Jue-Sheng; Pasquale, Louis R; Reisman, Charles A; Daniszewski, Maciej; Powell, Joseph E; Pébay, Alice; Simcoe, Mark J; Thiadens, Alberta A H J; van Duijn, Cornelia M; Yazar, Seyhan; Jorgenson, Eric; MacGregor, Stuart; Hammond, Chris J; Mackey, David A; Wiggs, Janey L; Foster, Paul J; Patel, Praveen J; Birney, Ewan; Khawaja, Anthony P.

PLoS Genet ; 17(10): e1009858, 2021 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-34662343

8.

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

Currant, Hannah; Hysi, Pirro; Fitzgerald, Tomas W; Gharahkhani, Puya; Bonnemaijer, Pieter W M; Senabouth, Anne; Hewitt, Alex W; Atan, Denize; Aung, Tin; Charng, Jason; Choquet, Hélène; Craig, Jamie; Khaw, Peng T; Klaver, Caroline C W; Kubo, Michiaki; Ong, Jue-Sheng; Pasquale, Louis R; Reisman, Charles A; Daniszewski, Maciej; Powell, Joseph E; Pébay, Alice; Simcoe, Mark J; Thiadens, Alberta A H J; van Duijn, Cornelia M; Yazar, Seyhan; Jorgenson, Eric; MacGregor, Stuart; Hammond, Chris J; Mackey, David A; Wiggs, Janey L; Foster, Paul J; Patel, Praveen J; Birney, Ewan; Khawaja, Anthony P.

PLoS Genet ; 17(5): e1009497, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33979322

9.

Myopia progression following 0.01% atropine cessation in Australian children: Findings from the Western Australia - Atropine for the Treatment of Myopia (WA-ATOM) study.

Lee, Samantha Sze-Yee; Nilagiri, Vinay Kumar; Lingham, Gareth; Blaszkowska, Magdalena; Sanfilippo, Paul G; Franchina, Maria; Clark, Antony; Mackey, David A.

Clin Exp Ophthalmol ; 2024 Feb 23.

Artigo em Inglês | MEDLINE | ID: mdl-38400607

10.

Vitamin D Supplementation and the Incidence of Cataract Surgery in Older Australian Adults.

Rahman, Sabbir T; Waterhouse, Mary; Romero, Briony Duarte; Baxter, Catherine; English, Dallas; Mackey, David A; Ebeling, Peter R; Armstrong, Bruce K; McLeod, Donald S A; Hartel, Gunter; O'Connell, Rachel L; van der Pols, Jolieke C; Venn, Alison J; Webb, Penelope M; Whiteman, David C; Neale, Rachel E.

Ophthalmology ; 130(3): 313-323, 2023 03.

Artigo em Inglês | MEDLINE | ID: mdl-36174848

11.

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Burdon, Kathryn P; Graham, Patricia; Hadler, Johanna; Hulleman, John D; Pasutto, Francesca; Boese, Erin A; Craig, Jamie E; Fingert, John H; Hewitt, Alex W; Siggs, Owen M; Whisenhunt, Kristina; Young, Terri L; Mackey, David A; Dubowsky, Andrew; Souzeau, Emmanuelle.

Hum Mutat ; 43(12): 2170-2186, 2022 12.

Artigo em Inglês | MEDLINE | ID: mdl-36217948

12.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Sue, Carolyn M; Balasubramaniam, Shanti; Bratkovic, Drago; Bonifant, Catherine; Christodoulou, John; Coman, David; Crawley, Karen; Edema-Hildebrand, Fabienne; Ellaway, Carolyn; Ghaoui, Roula; Kava, Maina; Kearns, Lisa S; Lee, Joy; Liang, Christina; Mackey, David A; Murray, Sean; Needham, Merrilee; Rius, Rocio; Russell, Jacqui; Smith, Nicholas J C; Thyagarajan, Dominic; Wools, Christine.

Intern Med J ; 52(1): 110-120, 2022 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-34505344

13.

Associations of 12-year sleep behaviour trajectories from childhood to adolescence with myopia and ocular biometry during young adulthood.

Stafford-Bell, Nicholas; McVeigh, Joanne; Lingham, Gareth; Straker, Leon; Eastwood, Peter R; Yazar, Seyhan; Mackey, David A; Lee, Samantha Sze-Yee.

Ophthalmic Physiol Opt ; 42(1): 19-27, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34676908

14.

Sleep and eye disease: A review.

Lee, Samantha S Y; Nilagiri, Vinay K; Mackey, David A.

Clin Exp Ophthalmol ; 50(3): 334-344, 2022 04.

Artigo em Inglês | MEDLINE | ID: mdl-35263016

15.

Association between dietary niacin and retinal nerve fibre layer thickness in healthy eyes of different ages.

Charng, Jason; Ansari, Abdus Samad; Bondonno, Nicola P; Hunter, Michael L; O'Sullivan, Therese A; Louca, Panayiotis; Hammond, Chris J; Mackey, David A.

Clin Exp Ophthalmol ; 50(7): 736-744, 2022 09.

Artigo em Inglês | MEDLINE | ID: mdl-35642435

16.

Low-concentration atropine eyedrops for myopia control in a multi-racial cohort of Australian children: A randomised clinical trial.

Lee, Samantha Sze-Yee; Lingham, Gareth; Blaszkowska, Magdalena; Sanfilippo, Paul G; Koay, Adrian; Franchina, Maria; Chia, Audrey; Loughman, James; Flitcroft, Daniel Ian; Hammond, Christopher J; Azuara-Blanco, Augusto; Crewe, Julie M; Clark, Antony; Mackey, David A.

Clin Exp Ophthalmol ; 50(9): 1001-1012, 2022 12.

Artigo em Inglês | MEDLINE | ID: mdl-36054556

17.

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.

Han, Xikun; Qassim, Ayub; An, Jiyuan; Marshall, Henry; Zhou, Tiger; Ong, Jue-Sheng; Hassall, Mark M; Hysi, Pirro G; Foster, Paul J; Khaw, Peng T; Mackey, David A; Gharahkhani, Puya; Khawaja, Anthony P; Hewitt, Alex W; Craig, Jamie E; MacGregor, Stuart.

Hum Mol Genet ; 28(21): 3680-3690, 2019 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-31809533

18.

Associations of sleep apnoea with glaucoma and age-related macular degeneration: an analysis in the United Kingdom Biobank and the Canadian Longitudinal Study on Aging.

Han, Xikun; Lee, Samantha Sze-Yee; Ingold, Nathan; McArdle, Nigel; Khawaja, Anthony P; MacGregor, Stuart; Mackey, David A.

BMC Med ; 19(1): 104, 2021 05 11.

Artigo em Inglês | MEDLINE | ID: mdl-33971878

19.

Prevalence of Keratoconus Based on Scheimpflug Imaging: The Raine Study.

Chan, Elsie; Chong, Elaine W; Lingham, Gareth; Stevenson, Louis J; Sanfilippo, Paul G; Hewitt, Alex W; Mackey, David A; Yazar, Seyhan.

Ophthalmology ; 128(4): 515-521, 2021 04.

Artigo em Inglês | MEDLINE | ID: mdl-32860813

20.

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

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.

Ophthalmology ; 128(11): 1549-1560, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-33892047

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