Browse by UCL people
Group by: Type | Date
Number of items: 24.
Article
Almoallem, B;
Arno, G;
De Zaeytijd, J;
Verdin, H;
Balikova, I;
Casteels, I;
de Ravel, T;
... De Baere, E; + view all
(2020)
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Scientific Reports
, 10
(1)
, Article 1289. 10.1038/s41598-019-57338-2.
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Arno, Gavin;
Hull, Sarah;
Robson, Anthony G;
Holder, Graham E;
Cheetham, Michael E;
Webster, Andrew R;
Plagnol, Vincent;
(2015)
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Investigative Ophthalmology and Visual Science
, 56
(4)
pp. 2358-2365.
10.1167/iovs.15-16520.
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Arno, G;
Agrawal, SA;
Eblimit, A;
Bellingham, J;
Xu, M;
Wang, F;
Chakarova, C;
... Chen, R; + view all
(2016)
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
, 99
(6)
pp. 1305-1315.
10.1016/j.ajhg.2016.10.008.
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Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
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Arno, G;
Hull, S;
Carss, K;
Dev-Borman, A;
Chakarova, C;
Bujakowska, K;
van den Born, I;
... Webster, AR; + view all
(2016)
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 4806-4813.
10.1167/iovs.16-19687.
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Astuti, GDN;
Arno, G;
Hull, S;
Pierrache, L;
Venselaar, H;
Carss, K;
Raymond, FL;
... Cremers, FPM; + view all
(2016)
Mutations in AGBL5, Encoding alpha-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Investigative Ophthalmology & Visual Science
, 57
(14)
pp. 6180-6187.
10.1167/iovs.16-20148.
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Bouzia, Z;
Georgiou, M;
Hull, S;
Robson, AG;
Fujinami, K;
Rotsos, T;
Pontikos, N;
... Michaelides, M; + view all
(2019)
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
American Journal of Ophthalmology
10.1016/j.ajo.2019.10.019.
(In press).
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Carss, KJ;
Arno, G;
Erwood, M;
Stephens, J;
Sanchis-Juan, A;
Hull, S;
Megy, K;
... Raymond, FL; + view all
(2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American Journal of Human Genetics
, 100
(1)
pp. 75-90.
10.1016/j.ajhg.2016.12.003.
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Cheong, SS;
Hull, S;
Jones, B;
Chana, R;
Thornton, N;
Plagnol, V;
Moore, AT;
(2017)
Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.
Human Genome Variation
, 4
, Article 17004. 10.1038/hgv.2017.4.
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Fasham, J;
Arno, G;
Lin, S;
Xu, M;
Carss, KJ;
Hull, S;
Lane, A;
... NIHR Bioresource Rare Diseases Consortium; + view all
(2019)
Delineating the expanding phenotype associated with SCAPER gene mutation.
[Letter].
American Journal of Medical Genetics Part A
, 179
(8)
pp. 1665-1671.
10.1002/ajmg.a.61202.
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Hull, S;
Arno, G;
Ku, CA;
Ge, Z;
Waseem, N;
Chandra, A;
Webster, AR;
... Moore, AT; + view all
(2016)
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
JAMA Ophthalmology
, 134
(7)
pp. 753-762.
10.1001/jamaophthalmol.2016.1073.
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Hull, S;
Arno, G;
Ostergaard, P;
Pontikos, N;
Robson, AG;
Webster, AR;
Hogg, CR;
... Michaelides, M; + view all
(2019)
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
American Journal of Ophthalmology
, 207
pp. 87-98.
10.1016/j.ajo.2019.05.001.
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Hull, S;
Arno, G;
Robson, AG;
Broadgate, S;
Plagnol, V;
McKibbin, M;
Halford, S;
... Webster, AR; + view all
(2016)
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
JAMA Ophthalmol
, 134
(9)
pp. 992-1000.
10.1001/jamaophthalmol.2016.2089.
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Hull, S;
Attanasio, M;
Arno, G;
Carss, K;
Robson, AG;
Thompson, DA;
Plagnol, V;
... Webster, AR; + view all
(2017)
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
JAMA Ophthalmol
, 135
(2)
pp. 137-144.
10.1001/jamaophthalmol.2016.5213.
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Hull, S;
Mukherjee, R;
Holder, GE;
Moore, AT;
Webster, AR;
(2016)
The clinical features of retinal disease due to a dominant mutation in RPE65.
Molecular Vision
, 22
pp. 626-635.
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Hull, S;
Owen, N;
Islam, F;
Tracey-White, D;
Plagnol, V;
Holder, GE;
Michaelides, M;
... Moore, AT; + view all
(2016)
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Investigative Ophthalmology & Visual Science
, 57
(3)
pp. 1053-1062.
10.1167/iovs.15-17976.
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Hull, S;
Tailor, V;
Balduzzi, S;
Rahi, J;
Schmucker, C;
Virgili, G;
Dahlmann-Noor, A;
(2017)
Tests for detecting strabismus in children aged 1 to 6 years in the community.
Cochrane Database of Systematic Reviews
(11)
10.1002/14651858.CD011221.pub2.
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Li, L;
Jiao, X;
D'Atri, I;
Ono, F;
Nelson, R;
Chan, C-C;
Nakaya, N;
... Hejtmancik, JF; + view all
(2018)
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
PLoS Genetics
, 14
(8)
, Article e1007504. 10.1371/journal.pgen.1007504.
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Nguyen, T-MT;
Hull, S;
Roepman, R;
van den Born, LI;
Oud, MM;
de Vrieze, E;
Hetterschijt, L;
... Haer-Wigman, L; + view all
(2017)
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Journal of Medical Genetics
, 54
pp. 624-632.
10.1136/jmedgenet-2016-104200.
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Oatts, JT;
Hull, S;
Michaelides, M;
Arno, G;
Webster, AR;
Moore, AT;
(2017)
Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.
Ophthalmic Genetics
, 38
(3)
pp. 281-283.
10.1080/13816810.2016.1188122.
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Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
... Mitchison, HM; + view all
(2013)
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of Medical Genetics
10.1136/jmedgenet-2013-101938.
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Parfitt, DA;
Lane, A;
Ramsden, CM;
Carr, A-JF;
Munro, PM;
Jovanovic, K;
Schwarz, N;
... Cheetham, ME; + view all
(2016)
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
Cell Stem Cell
, 18
(6)
pp. 769-781.
10.1016/j.stem.2016.03.021.
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Taylor, RL;
Arno, G;
Poulter, JA;
Khan, KN;
Morarji, J;
Hull, S;
Pontikos, N;
... UK Inherited Retinal Disease Consortium and the 100,000 Genomes; + view all
(2017)
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
JAMA Ophthalmology
, 135
(4)
pp. 339-347.
10.1001/jamaophthalmol.2017.0046.
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Thesis
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Hull, S;
(2016)
Investigation of the genetic cause and related phenotypes of rare early onset retinal dystrophies.
Doctoral thesis , UCL (University College London).
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