Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 132

1.

Direct Ophthalmic Healthcare Resource Use among Patients with Geographic Atrophy in a Large Cohort from the United Kingdom.

Chakravarthy U, Bailey CC, Scanlon PH, McKibbin M, Khan RS, Mahmood S, Downey L, Dhingra N, Brand C, Brittain CJ, Willis JR, Venerus A, Muthutantri A, Cantrell RA.

Ophthalmol Retina. 2019 Nov;3(11):920-926. doi: 10.1016/j.oret.2019.06.012. Epub 2019 Jul 8.

PMID:
31416764
2.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S.

Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6.

PMID:
31058429
3.

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

Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium.

Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21.

4.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28.

PMID:
30825406
5.

Secondary End Points in the RIVAL Study.

McKibbin M, Downey L.

JAMA Ophthalmol. 2019 Apr 1;137(4):379-381. doi: 10.1001/jamaophthalmol.2018.6807. No abstract available.

PMID:
30676615
6.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

7.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028.

8.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

Buskin A, Zhu L, Chichagova V, Basu B, Mozaffari-Jovin S, Dolan D, Droop A, Collin J, Bronstein R, Mehrotra S, Farkas M, Hilgen G, White K, Pan KT, Treumann A, Hallam D, Bialas K, Chung G, Mellough C, Ding Y, Krasnogor N, Przyborski S, Zwolinski S, Al-Aama J, Alharthi S, Xu Y, Wheway G, Szymanska K, McKibbin M, Inglehearn CF, Elliott DJ, Lindsay S, Ali RR, Steel DH, Armstrong L, Sernagor E, Urlaub H, Pierce E, Lührmann R, Grellscheid SN, Johnson CA, Lako M.

Nat Commun. 2018 Oct 12;9(1):4234. doi: 10.1038/s41467-018-06448-y.

9.

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

Butt F, McKibbin M.

BMC Ophthalmol. 2018 Sep 14;18(Suppl 1):225. doi: 10.1186/s12886-018-0855-6.

10.

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

Lorés-Motta L, Riaz M, Grunin M, Corominas J, van Asten F, Pauper M, Leenders M, Richardson AJ, Muether P, Cree AJ, Griffiths HL, Pham C, Belanger MC, Meester-Smoor MA, Ali M, Heid IM, Fritsche LG, Chakravarthy U, Gale R, McKibbin M, Inglehearn CF, Schlingemann RO, Omar A, Chen J, Koenekoop RK, Fauser S, Guymer RH, Hoyng CB, de Jong EK, Lotery AJ, Mitchell P, den Hollander AI, Baird PN, Chowers I.

JAMA Ophthalmol. 2018 Aug 1;136(8):875-884. doi: 10.1001/jamaophthalmol.2018.2019.

11.

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

McKibbin M, Farragher TM, Shickle D.

BMJ Open Ophthalmol. 2018 Jan 31;3(1):e000076. doi: 10.1136/bmjophth-2017-000076. eCollection 2018.

12.

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M; UK Inherited Retinal Disease Consortium.

Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1.

13.

Characterizing Disease Burden and Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.

Chakravarthy U, Bailey CC, Johnston RL, McKibbin M, Khan RS, Mahmood S, Downey L, Dhingra N, Brand C, Brittain CJ, Willis JR, Rabhi S, Muthutantri A, Cantrell RA.

Ophthalmology. 2018 Jun;125(6):842-849. doi: 10.1016/j.ophtha.2017.11.036. Epub 2018 Feb 1.

14.

Vitreoretinal interface abnormalities in middle-aged adults with visual impairment in the UK Biobank study: prevalence, impact on visual acuity and associations.

McKibbin M, Farragher T, Shickle D.

BMJ Open Ophthalmol. 2017 Jun 29;1(1):e000057. doi: 10.1136/bmjophth-2016-000057. eCollection 2017.

15.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1). pii: E21. doi: 10.3390/genes9010021.

16.

CNGB3 mutations cause severe rod dysfunction.

Maguire J, McKibbin M, Khan K, Kohl S, Ali M, McKeefry D.

Ophthalmic Genet. 2018 Jan-Feb;39(1):108-114. doi: 10.1080/13816810.2017.1368087. Epub 2017 Sep 20.

PMID:
28929832
17.

An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure.

Hallam D, Collin J, Bojic S, Chichagova V, Buskin A, Xu Y, Lafage L, Otten EG, Anyfantis G, Mellough C, Przyborski S, Alharthi S, Korolchuk V, Lotery A, Saretzki G, McKibbin M, Armstrong L, Steel D, Kavanagh D, Lako M.

Stem Cells. 2017 Nov;35(11):2305-2320. doi: 10.1002/stem.2708. Epub 2017 Oct 9. Erratum in: Stem Cells. 2018 Apr;36(4):630.

18.

Appropriateness of quality standards for meaningful intercentre comparisons of aflibercept service provision for neovascular age-related macular degeneration.

Talks JS, James P, Sivaprasad S, Johnston RL, McKibbin M; UK Aflibercept Users Group.

Eye (Lond). 2017 Nov;31(11):1613-1620. doi: 10.1038/eye.2017.86. Epub 2017 Jun 23.

19.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.

Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, Poulter JA, Carss K, Bommireddy T, Bagheri S, Bakall B, Scholl HP, Raymond FL, Toomes C, Inglehearn CF, Pennesi ME, Moore AT, Michaelides M, Webster AR, Ali M; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):2906-2914. doi: 10.1167/iovs.16-20608.

20.

The United Kingdom Diabetic Retinopathy Electronic Medical Record Users Group: Report 3: Baseline Retinopathy and Clinical Features Predict Progression of Diabetic Retinopathy.

Lee CS, Lee AY, Baughman D, Sim D, Akelere T, Brand C, Crabb DP, Denniston AK, Downey L, Fitt A, Khan R, Mahmood S, Mandal K, Mckibbin M, Menon G, Lobo A, Kumar BV, Natha S, Varma A, Wilkinson E, Mitry D, Bailey C, Chakravarthy U, Tufail A, Egan C; UK DR EMR Users Group.

Am J Ophthalmol. 2017 Aug;180:64-71. doi: 10.1016/j.ajo.2017.05.020. Epub 2017 May 29.

21.

The UK Diabetic Retinopathy Electronic Medical Record (UK DR EMR) Users Group, Report 2: real-world data for the impact of cataract surgery on diabetic macular oedema.

Denniston AK, Chakravarthy U, Zhu H, Lee AY, Crabb DP, Tufail A, Bailey C, Akerele T, Al-Husainy S, Brand C, Downey L, Fitt A, Khan R, Kumar V, Lobo A, Mahmood S, Mandal K, Mckibbin M, Menon G, Natha S, Ong JM, Tsaloumas MD, Varma A, Wilkinson E, Johnston RL, Egan CA; UK DR EMR Users Group.

Br J Ophthalmol. 2017 Dec;101(12):1673-1678. doi: 10.1136/bjophthalmol-2016-309838. Epub 2017 May 9.

PMID:
28487377
22.

UK AMD/DR EMR REPORT IX: comparative effectiveness of predominantly as needed (PRN) ranibizumab versus continuous aflibercept in UK clinical practice.

Lee AY, Lee CS, Egan CA, Bailey C, Johnston RL, Natha S, Hamilton R, Khan R, Al-Husainy S, Brand C, Akerele T, Mckibbin M, Downey L, Tufail A.

Br J Ophthalmol. 2017 Dec;101(12):1683-1688. doi: 10.1136/bjophthalmol-2016-309818. Epub 2017 May 6.

23.

VISUAL ACUITY IMPROVEMENT WHEN SWITCHING FROM RANIBIZUMAB TO AFLIBERCEPT IS NOT SUSTAINED.

Lee CS, Kim AJ, Baughman D, Egan C, Bailey C, Johnston RL, Natha S, Khan R, Brand C, Akerele T, McKibbin M, Downey L, Al-Husainy S, Lee AY, Tufail A.

Retina. 2018 May;38(5):951-956. doi: 10.1097/IAE.0000000000001637.

24.

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

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.

25.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C.

Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282.

26.

The United Kingdom Diabetic Retinopathy Electronic Medical Record Users Group, Report 1: baseline characteristics and visual acuity outcomes in eyes treated with intravitreal injections of ranibizumab for diabetic macular oedema.

Egan C, Zhu H, Lee A, Sim D, Mitry D, Bailey C, Johnston R, Chakravarthy U, Denniston A, Tufail A, Khan R, Mahmood S, Menon G, Akerele T, Downey L, McKibbin M, Varma A, Lobo A, Wilkinson E, Fitt A, Brand C, Tsaloumas M, Mandal K, Kumar V, Natha S, Crabb D; UK AMD and DR EMR Users Group.

Br J Ophthalmol. 2017 Jan;101(1):75-80. doi: 10.1136/bjophthalmol-2016-309313. Epub 2016 Dec 13.

PMID:
27965262
27.

UK Age-Related Macular Degeneration Electronic Medical Record System (AMD EMR) Users Group Report IV: Incidence of Blindness and Sight Impairment in Ranibizumab-Treated Patients.

Johnston RL, Lee AY, Buckle M, Antcliff R, Bailey C, McKibbin M, Chakravarthy U, Tufail A; UK AMD EMR Users Group.

Ophthalmology. 2016 Nov;123(11):2386-2392. doi: 10.1016/j.ophtha.2016.07.037. Epub 2016 Sep 9.

PMID:
27615601
28.

The UK Neovascular AMD Database Report 3: inter-centre variation in visual acuity outcomes and establishing real-world measures of care.

Liew G, Lee AY, Zarranz-Ventura J, Stratton I, Bunce C, Chakravarthy U, Lee CS, Keane PA, Sim DA, Akerele T, McKibbin M, Downey L, Natha S, Bailey C, Khan R, Antcliff R, Armstrong S, Varma A, Kumar V, Tsaloumas M, Mandal K, Egan C, Johnston RL, Tufail A.

Eye (Lond). 2016 Nov;30(11):1462-1468. doi: 10.1038/eye.2016.149. Epub 2016 Jul 15.

29.

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

Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR.

JAMA Ophthalmol. 2016 Sep 1;134(9):992-1000. doi: 10.1001/jamaophthalmol.2016.2089.

PMID:
27386845
30.

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

Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT.

Prog Retin Eye Res. 2016 Jul;53:70-106. doi: 10.1016/j.preteyeres.2016.04.008. Epub 2016 May 10. Review.

PMID:
27173377
31.

Defining a Minimum Set of Standardized Patient-centered Outcome Measures for Macular Degeneration.

Rodrigues IA, Sprinkhuizen SM, Barthelmes D, Blumenkranz M, Cheung G, Haller J, Johnston R, Kim R, Klaver C, McKibbin M, Ngah NF, Pershing S, Shankar D, Tamura H, Tufail A, Weng CY, Westborg I, Yelf C, Yoshimura N, Gillies MC.

Am J Ophthalmol. 2016 Aug;168:1-12. doi: 10.1016/j.ajo.2016.04.012. Epub 2016 Apr 27.

32.

UK Neovascular Age-Related Macular Degeneration Database. Report 6: time to retreatment after a pause in therapy. Outcomes from 92 976 intravitreal ranibizumab injections.

Madhusudhana KC, Lee AY, Keane PA, Chakravarthy U, Johnston RL, Egan CA, Sim D, Zarranz-Ventura J, Tufail A, McKibbin M; UK AMD EMR Study Group.

Br J Ophthalmol. 2016 Dec;100(12):1617-1622. doi: 10.1136/bjophthalmol-2015-308077. Epub 2016 Mar 30.

PMID:
27030276
33.

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

Hykin P, Chakravarthy U, Lotery A, McKibbin M, Napier J, Sivaprasad S.

Clin Ophthalmol. 2016 Jan 13;10:87-96. doi: 10.2147/OPTH.S92627. eCollection 2016.

34.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604.

35.

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

Talks JS, Lotery AJ, Ghanchi F, Sivaprasad S, Johnston RL, Patel N, McKibbin M, Bailey C, Mahmood S; United Kingdom Aflibercept Users Group.

Ophthalmology. 2016 Feb;123(2):337-43. doi: 10.1016/j.ophtha.2015.09.039. Epub 2015 Nov 12. Erratum in: Ophthalmology. 2016 Mar;123(3):673.

PMID:
26578446
36.

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

Sansom LT, Suter CA, McKibbin M.

Acta Ophthalmol. 2016 Mar;94(2):e157-8. doi: 10.1111/aos.12794. Epub 2015 Jul 14. No abstract available.

37.

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

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

38.

Aflibercept in wet AMD beyond the first year of treatment: recommendations by an expert roundtable panel.

McKibbin M, Devonport H, Gale R, Gavin M, Lotery A, Mahmood S, Patel PJ, Ross A, Sivaprasad S, Talks J, Walters G.

Eye (Lond). 2015 Jul;29 Suppl 1:S1-S11. doi: 10.1038/eye.2015.77.

39.

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease.

Ahmed K, Ahmed M, Potrata B, Willis TA, Grant HL, Allsop MJ, Hewison J, Downey L, Gale R, McKibbin M.

Prenat Diagn. 2015 Sep;35(9):913-8. doi: 10.1002/pd.4644. Epub 2015 Jul 16.

40.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M.

Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14.

41.

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

McKibbin MA, Suter CA, Willis TA.

Retina. 2015 Oct;35(10):1951-6. doi: 10.1097/IAE.0000000000000587.

42.

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

Butler JM, Sharif U, Ali M, McKibbin M, Thompson JP, Gale R, Yang YC, Inglehearn C, Paraoan L.

Hum Genet. 2015 Jul;134(7):705-15. doi: 10.1007/s00439-015-1552-7. Epub 2015 Apr 19.

43.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M.

Mol Vis. 2015 Mar 7;21:236-43. eCollection 2015.

44.

UK AMD EMR USERS GROUP REPORT V: benefits of initiating ranibizumab therapy for neovascular AMD in eyes with vision better than 6/12.

Lee AY, Lee CS, Butt T, Xing W, Johnston RL, Chakravarthy U, Egan C, Akerele T, McKibbin M, Downey L, Natha S, Bailey C, Khan R, Antcliff R, Varma A, Kumar V, Tsaloumas M, Mandal K, Liew G, Keane PA, Sim D, Bunce C, Tufail A; UK AMD EMR Users Group.

Br J Ophthalmol. 2015 Aug;99(8):1045-50. doi: 10.1136/bjophthalmol-2014-306229. Epub 2015 Feb 13.

45.

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.

JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251.

PMID:
25541840
46.

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

McKibbin M, Baker L, Baxter P, Czoski-Muray C, Setty R.

Graefes Arch Clin Exp Ophthalmol. 2015 Sep;253(9):1479-83. doi: 10.1007/s00417-014-2839-4. Epub 2014 Nov 5.

47.

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M.

PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.

48.

The neovascular age-related macular degeneration database: report 2: incidence, management, and visual outcomes of second treated eyes.

Zarranz-Ventura J, Liew G, Johnston RL, Xing W, Akerele T, McKibbin M, Downey L, Natha S, Chakravarthy U, Bailey C, Khan R, Antcliff R, Armstrong S, Varma A, Kumar V, Tsaloumas M, Mandal K, Bunce C, Tufail A; United Kingdom Age-Related Macular Degeneration Electronic Medical Records Users Group.

Ophthalmology. 2014 Oct;121(10):1966-75. doi: 10.1016/j.ophtha.2014.04.026. Epub 2014 Jun 20.

PMID:
24953791
49.

Willingness to pay for genetic testing for inherited retinal disease.

Tubeuf S, Willis TA, Potrata B, Grant H, Allsop MJ, Ahmed M, Hewison J, McKibbin M.

Eur J Hum Genet. 2015 Mar;23(3):285-91. doi: 10.1038/ejhg.2014.111. Epub 2014 Jun 11.

50.

Intravitreal bevacizumab injection in unrecognised early pregnancy.

Sullivan L, Kelly SP, Glenn A, Williams CP, McKibbin M.

Eye (Lond). 2014 Apr;28(4):492-4. doi: 10.1038/eye.2013.311. Epub 2014 Jan 17.

Supplemental Content

Loading ...
Support Center