Martin McKibbin

Martin McKibbin

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Martin McKibbin

Martin McKibbin

Publications by authors named "Martin McKibbin"

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Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Ophthalmology 2019 10 21;126(10):1410-1421. Epub 2019 Mar 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St. Mary's Hospital, Manchester, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183317
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http://dx.doi.org/10.1016/j.ophtha.2019.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856713PMC
October 2019

Secondary End Points in the RIVAL Study.

JAMA Ophthalmol 2019 04;137(4):379-381

Hull and East Yorkshire Eye Hospitals National Health Service Trust, Yorkshire, England.

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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaophthalmol.2018.6807DOI Listing
April 2019

Rare retinal complications of bone marrow transplantation (BMT): a case report.

BMC Ophthalmol 2018 Sep 14;18(Suppl 1):225. Epub 2018 Sep 14.

Leeds Teaching Hospital, Beckett St, Leeds, LS9 7TF, England.

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http://dx.doi.org/10.1186/s12886-018-0855-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157125PMC
September 2018

Monocular and binocular visual impairment in the UK Biobank study: prevalence, associations and diagnoses.

BMJ Open Ophthalmol 2018 31;3(1):e000076. Epub 2018 Jan 31.

Academic Unit of Public Health, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1136/bmjophth-2017-000076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895967PMC
January 2018

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

JAMA Ophthalmol 2016 Sep;134(9):992-1000

UCL (University College of London) Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.2089DOI Listing
September 2016

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.

Prog Retin Eye Res 2016 07 10;53:70-106. Epub 2016 May 10.

University College London, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; Medical Retina Service, Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1016/j.preteyeres.2016.04.008DOI Listing
July 2016

The association between systolic blood pressure, ocular perfusion pressure and subfoveal choroidal thickness in normal individuals.

Acta Ophthalmol 2016 Mar 14;94(2):e157-8. Epub 2015 Jul 14.

Eye Clinic, St. James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1111/aos.12794DOI Listing
March 2016

First-Year Visual Acuity Outcomes of Providing Aflibercept According to the VIEW Study Protocol for Age-Related Macular Degeneration.

Ophthalmology 2016 Feb 12;123(2):337-343. Epub 2015 Nov 12.

Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2015.09.039DOI Listing
February 2016

A retrospective study of the real-life utilization and effectiveness of ranibizumab therapy for neovascular age-related macular degeneration in the UK.

Clin Ophthalmol 2016 13;10:87-96. Epub 2016 Jan 13.

National Institute for Health Research Biomedical Research Centre in Ophthalmology, Moorfields Eye Hospital, London, UK; Ophthalmology Department, King's College Hospital, London, UK.

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http://dx.doi.org/10.2147/OPTH.S92627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716754PMC
February 2016

THE INFLUENCE OF VITREOMACULAR ADHESION ON OUTCOMES AFTER AFLIBERCEPT THERAPY FOR NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

Retina 2015 Oct;35(10):1951-6

*Eye Clinic, St James's University Hospital, Leeds, United Kingdom; †Birmingham Midlands Eye Centre, City Hospital, Birmingham, United Kingdom; and ‡Leeds Institute of Health Sciences, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000000587DOI Listing
October 2015

The accuracy of home monitoring to detect disease activity during maintenance therapy for neovascular ARMD.

Graefes Arch Clin Exp Ophthalmol 2015 Sep 5;253(9):1479-83. Epub 2014 Nov 5.

Eye Clinic, St. James's University Hospital, Leeds, LS9 7TF, UK,

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http://dx.doi.org/10.1007/s00417-014-2839-4DOI Listing
September 2015

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease.

Prenat Diagn 2015 Sep 16;35(9):913-8. Epub 2015 Jul 16.

Eye Clinic, St. James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1002/pd.4644DOI Listing
September 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.

Hum Genet 2015 Jul 19;134(7):705-15. Epub 2015 Apr 19.

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, L69 3GA, UK.

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http://dx.doi.org/10.1007/s00439-015-1552-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460273PMC
July 2015

Willingness to pay for genetic testing for inherited retinal disease.

Eur J Hum Genet 2015 Mar 11;23(3):285-91. Epub 2014 Jun 11.

Department of Ophthalmology, St James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1038/ejhg.2014.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326707PMC
March 2015

"To perpetuate blindness!": attitudes of UK patients with inherited retinal disease towards genetic testing.

J Community Genet 2014 Jul 24;5(3):215-22. Epub 2013 Dec 24.

Leeds Institute of Health Sciences, University of Leeds, 101 Clarendon Road, Leeds, LS2 9LJ, UK,

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http://dx.doi.org/10.1007/s12687-013-0176-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059844PMC
July 2014

Patterns of inheritance, not always easily visible.

BMJ 2013 Nov 6;347:f6610. Epub 2013 Nov 6.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1136/bmj.f6610DOI Listing
November 2013

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Invest Ophthalmol Vis Sci 2013 Jan 17;54(1):520. Epub 2013 Jan 17.

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http://dx.doi.org/10.1167/iovs.12-11472DOI Listing
January 2013

Chloroquine and hydroxychloroquine toxicity.

Arch Ophthalmol 2011 Nov;129(11):1506-7

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http://dx.doi.org/10.1001/archophthalmol.2011.321DOI Listing
November 2011

Variability in subfoveal choroidal thickness measurements.

Invest Ophthalmol Vis Sci 2011 Sep 14;52(10):7221; author reply 7221. Epub 2011 Sep 14.

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http://dx.doi.org/10.1167/iovs.11-8019DOI Listing
September 2011

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

Arch Ophthalmol 2010 Jan;128(1):107-13

Department of Ophthalmology, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, England.

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http://dx.doi.org/10.1001/archophthalmol.2010.309DOI Listing
January 2010

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan.

J Coll Physicians Surg Pak 2009 Dec;19(12):806-8

Department of Medicine, The Aga Khan University Hospital, Karachi.

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http://dx.doi.org/12.2009/JCPSP.806808DOI Listing
December 2009

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Am J Hum Genet 2009 Nov 22;85(5):581-92. Epub 2009 Oct 22.

Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775838PMC
November 2009

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Mol Vis 2008 30;14:1960-4. Epub 2008 Oct 30.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576480PMC
March 2009

Purtscher's retinopathy: epidemiology, clinical features and outcome.

Br J Ophthalmol 2007 Nov 7;91(11):1456-9. Epub 2007 Jun 7.

External Eye Diseases & Refractive Surgery, Manchester Royal Eye Hospital, Manchester, UK.

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http://dx.doi.org/10.1136/bjo.2007.117408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2095457PMC
November 2007

Purtscher's and Purtscher-like retinopathies: a review.

Surv Ophthalmol 2006 Mar-Apr;51(2):129-36

Department of Ophthalmology, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1016/j.survophthal.2005.12.003DOI Listing
May 2006

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Am J Hum Genet 2006 May 21;78(5):889-896. Epub 2006 Mar 21.

Section of Ophthalmology and Neuroscience, Institute of Molecular Medicine, Epidemiology and Cancer Research, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1086/503875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474039PMC
May 2006

Endophthalmitis in an Asian population.

Ophthalmology 2005 May;112(5):944; author reply 944

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http://dx.doi.org/10.1016/j.ophtha.2004.10.022DOI Listing
May 2005

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Eur J Hum Genet 2003 May;11(5):420-3

Molecular Medicine Unit, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5200981DOI Listing
May 2003