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Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa
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Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Ali, Manir ; Hocking, Paul M ; McKibbin, Martin ; Finnegan, Sorcha ; Shires, Mike ; Poulter, James A ; Prescott, Katrina ; Booth, Adam ; Raashid, Yasmin ; Jafri, Hussain ; Ruddle, Jonathan B ; Mackey, David A ; Jacobson, Samuel G ; Toomes, Carmel ; Lester, Douglas H ; Burt, David W ; Curry, William J ; Inglehearn, Chris F

Investigative ophthalmology & visual science, 2011-09, Vol.52 (10), p.7432-7440 [Periódico revisado por pares]

United States

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2
Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets
Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets
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Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Bailey, Jessica N Cooke ; Gharahkhani, Puya ; Kang, Jae H ; Butkiewicz, Mariusz ; Sullivan, David A ; Weinreb, Robert N ; Aschard, Hugues ; Allingham, R Rand ; Ashley-Koch, Allison ; Lee, Richard K ; Moroi, Sayoko E ; Brilliant, Murray H ; Wollstein, Gadi ; Schuman, Joel S ; Fingert, John H ; Budenz, Donald L ; Realini, Tony ; Gaasterland, Terry ; Scott, William K ; Singh, Kuldev ; Sit, Arthur J ; Igo, Jr, Robert P ; Song, Yeunjoo E ; Hark, Lisa ; Ritch, Robert ; Rhee, Douglas J ; Vollrath, Douglas ; Zack, Donald J ; Medeiros, Felipe ; Vajaranant, Thasarat S ; Chasman, Daniel I ; Christen, William G ; Pericak-Vance, Margaret A ; Liu, Yutao ; Kraft, Peter ; Richards, Julia E ; Rosner, Bernard A ; Hauser, Michael A ; Craig, Jamie E ; Burdon, Kathryn P ; Hewitt, Alex W ; Mackey, David A ; Haines, Jonathan L ; MacGregor, Stuart ; Wiggs, Janey L ; Pasquale, Louis R

Investigative ophthalmology & visual science, 2018-02, Vol.59 (2), p.629-636 [Periódico revisado por pares]

United States: Association for Research in Vision and Ophthalmology

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3
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
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Investigation of crystallin genes in familial cataract, and report of two disease associated mutations

Burdon, K P ; Wirth, M G ; Mackey, D A ; Russell-Eggitt, I M ; Craig, J E ; Elder, J E ; Dickinson, J L ; Sale, M M

British journal of ophthalmology, 2004-01, Vol.88 (1), p.79-83 [Periódico revisado por pares]

BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd

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4
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
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Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

BURDON, Kathryn P ; MACGREGOR, Stuart ; LANDERS, John ; HENDERS, Anjali K ; WOOD, John ; SOUZEAU, Emmanuelle ; CRAWFORD, April ; LEO, Paul ; JIE JIN WANG ; ROCHTCHINA, Elena ; NYHOLT, Dale R ; MARTIN, Nicholas G ; HEWITT, Alex W ; MONTGOMERY, Grant W ; MITCHELL, Paul ; BROWN, Matthew A ; MACKEY, David A ; CRAIG, Jamie E ; SHARMA, Shiwani ; CHIDLOW, Glyn ; MILLS, Richard A ; DANOY, Patrick ; CASSON, Robert ; VISWANATHAN, Ananth C ; LIU, Jimmy Z

Nature genetics, 2011-06, Vol.43 (6), p.574-578 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
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Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Burdon, Kathryn P. ; McKay, James D. ; Sale, Michèle M. ; Russell-Eggitt, Isabelle M. ; Mackey, David A. ; Wirth, M. Gabriela ; Elder, James E. ; Nicoll, Alan ; Clarke, Michael P. ; FitzGerald, Liesel M. ; Stankovich, James M. ; Shaw, Marie A. ; Sharma, Shiwani ; Gajovic, Srecko ; Gruss, Peter ; Ross, Shelley ; Thomas, Paul ; Voss, Anne K. ; Thomas, Tim ; Gécz, Jozef ; Craig, Jamie E.

American journal of human genetics, 2003-11, Vol.73 (5), p.1120-1130 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
The PITX3 gene in posterior polar congenital cataract in Australia
The PITX3 gene in posterior polar congenital cataract in Australia
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The PITX3 gene in posterior polar congenital cataract in Australia

Burdon, Kathryn P ; McKay, James D ; Wirth, M Gabriela ; Russell-Eggit, Isabelle M ; Bhatti, Samira ; Ruddle, Jonathan B ; Dimasi, David ; Mackey, David A ; Craig, Jamie E

Molecular vision, 2006-04, Vol.12, p.367-371 [Periódico revisado por pares]

United States

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7
Prevalence of Keratoconus Based on Scheimpflug Imaging: The Raine Study
Prevalence of Keratoconus Based on Scheimpflug Imaging: The Raine Study
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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 (Rochester, Minn.), 2021-04, Vol.128 (4), p.515-521 [Periódico revisado por pares]

United States

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8
Interpreting MAIA Microperimetry Using Age- and Retinal Loci-Specific Reference Thresholds
Interpreting MAIA Microperimetry Using Age- and Retinal Loci-Specific Reference Thresholds
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Interpreting MAIA Microperimetry Using Age- and Retinal Loci-Specific Reference Thresholds

Charng, Jason ; Sanfilippo, Paul G ; Attia, Mary S ; Dolliver, Monika ; Arunachalam, Sukanya ; Chew, Avenell L ; Wong, Evan N ; Mackey, David A ; Chen, Fred K

Translational vision science & technology, 2020-06, Vol.9 (7), p.19-19 [Periódico revisado por pares]

United States

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9
Estimation of heritability and familial correlation in myopia is not affected by past sun exposure
Estimation of heritability and familial correlation in myopia is not affected by past sun exposure
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Estimation of heritability and familial correlation in myopia is not affected by past sun exposure

Charng, Jason ; Sanfilippo, Paul G ; Lingham, Gareth ; Stevenson, Louis J ; Mackey, David A ; Yazar, Seyhan

Ophthalmic genetics, 2019-11, Vol.40 (6), p.500-506 [Periódico revisado por pares]

England

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10
Hereditary Hyperferritinemia-Cataract Syndrome: Prevalence, Lens Morphology, Spectrum of Mutations, and Clinical Presentations
Hereditary Hyperferritinemia-Cataract Syndrome: Prevalence, Lens Morphology, Spectrum of Mutations, and Clinical Presentations
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Hereditary Hyperferritinemia-Cataract Syndrome: Prevalence, Lens Morphology, Spectrum of Mutations, and Clinical Presentations

Craig, Jamie E ; Clark, J. Benedict ; McLeod, Janet L ; Kirkland, Mark A ; Grant, Glenys ; Elder, James E ; Toohey, Michael G ; Kowal, Lionel ; Savoia, Helen F ; Chen, Celia ; Roberts, Sarah ; Wirth, M. Gabriela ; Mackey, David A

Archives of ophthalmology (1960), 2003-12, Vol.121 (12), p.1753-1761

Chicago, IL: American Medical Association

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