Donna S MacKay

Donna S MacKay

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Donna S MacKay

Donna S MacKay

Publications by authors named "Donna S MacKay"

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Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

JAMA Ophthalmol 2016 Sep;134(9):1049-53

Institute of Ophthalmology, University College London, London, England2Moorfields Eye Hospital, London, England7Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5833DOI Listing
September 2016

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.

PLoS One 2015 10;10(7):e0132529. Epub 2015 Jul 10.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0132529PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498621PMC
April 2016

Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.

PLoS One 2014 4;9(8):e104000. Epub 2014 Aug 4.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104000PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121231PMC
November 2015

Author reply: To PMID 24480711.

Ophthalmology 2015 Apr;122(4):e22

Moorfields Eye Hospital, London, UK; University College London, Institute of Ophthalmology, Bath Street, London, UK.

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http://dx.doi.org/10.1016/j.ophtha.2014.08.041DOI Listing
April 2015

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.

Hum Genomics 2014 Nov 18;8:19. Epub 2014 Nov 18.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, 660 S. Euclid Ave., Box 8096, St. Louis, Missouri, 63110, USA.

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http://www.humgenomics.com/content/8/1/19
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http://dx.doi.org/10.1186/s40246-014-0019-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240822PMC
November 2014

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Ophthalmology 2014 Jun 28;121(6):1174-84. Epub 2014 Jan 28.

Moorfields Eye Hospital, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2013.11.042DOI Listing
June 2014

The clinical effect of homozygous ABCA4 alleles in 18 patients.

Ophthalmology 2013 Nov 12;120(11):2324-31. Epub 2013 Jun 12.

UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom; National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ophtha.2013.04.016DOI Listing
November 2013

Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2).

Exp Eye Res 2012 Sep 2;102:111-2. Epub 2011 Jul 2.

Department of Genetics, Institute of Ophthalmology, University College London, London EC1V 9EL, UK.

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http://dx.doi.org/10.1016/j.exer.2011.06.019DOI Listing
September 2012

Focus on molecules: centrosomal protein 290 (CEP290).

Exp Eye Res 2011 May 20;92(5):316-7. Epub 2010 May 20.

UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.

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http://dx.doi.org/10.1016/j.exer.2010.05.009DOI Listing
May 2011

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Invest Ophthalmol Vis Sci 2011 Mar 30;52(3):1880-6. Epub 2011 Mar 30.

University College London, Institute of Ophthalmology, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.10-6043DOI Listing
March 2011

Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.

Invest Ophthalmol Vis Sci 2007 Feb;48(2):500-8

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, Campus Box 8096, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1167/iovs.06-0947DOI Listing
February 2007

A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.

Mol Vis 2004 Jun 11;10:376-82. Epub 2004 Jun 11.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.

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June 2004

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

Mol Vis 2004 Mar 17;10:155-62. Epub 2004 Mar 17.

Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.

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March 2004

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

Eur J Hum Genet 2003 Oct;11(10):784-93

Department of Ophthalmology, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201046DOI Listing
October 2003

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

Am J Hum Genet 2002 Nov 1;71(5):1216-21. Epub 2002 Oct 1.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1086/344212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC385100PMC
November 2002