Browse by UCL people
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Number of items: 41.
Article
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Aytulun, A;
Cruz-Herranz, A;
Aktas, O;
Balcer, LJ;
Balk, L;
Barboni, P;
Blanco, AA;
... Albrecht, P; + view all
(2021)
The APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies.
Neurology
10.1212/WNL.0000000000012125.
(In press).
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Black, GC;
Sergouniotis, P;
Sodi, A;
Leroy, BP;
Van Cauwenbergh, C;
Liskova, P;
Grønskov, K;
... Dollfus, H; + view all
(2021)
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Orphanet Journal of Rare Diseases
, 16
, Article 142. 10.1186/s13023-021-01756-x.
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Cairns, G;
Burté, F;
Price, R;
O'Connor, E;
Toms, M;
Mishra, R;
Moosajee, M;
... Yu-Wai-Man, P; + view all
(2021)
A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.
Scientific Reports
, 11
, Article 20491. 10.1038/s41598-021-99781-0.
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Carelli, Valerio;
Newman, Nancy J;
Yu-Wai-Man, Patrick;
Biousse, Valerie;
Moster, Mark L;
Subramanian, Prem S;
Vignal-Clermont, Catherine;
... Group, The Lhon Study; + view all
(2023)
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.
Ophthalmology and Therapy
, 12
(1)
pp. 401-429.
10.1007/s40123-022-00611-x.
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Charif, M;
Chevrollier, A;
Gueguen, N;
Bris, C;
Goudenège, D;
Desquiret-Dumas, V;
Leruez, S;
... Lenaers, G; + view all
(2020)
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Neurology Genetics
, 6
(3)
, Article e428. 10.1212/NXG.0000000000000428.
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Chen, BS;
Harvey, JP;
Gilhooley, MJ;
Jurkute, N;
Yu-Wai-Man, P;
(2023)
Mitochondria and the eye—manifestations of mitochondrial diseases and their management.
Eye
, 37
pp. 2416-2425.
10.1038/s41433-023-02523-x.
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Chow-Wing-Bom, HT;
Callaghan, MF;
Wang, J;
Wei, S;
Dick, F;
Yu-Wai-Man, P;
Dekker, TM;
(2022)
Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.
NeuroImage: Clinical
, 36
, Article 103240. 10.1016/j.nicl.2022.103240.
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Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
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Gilhooley, Michael James;
Raoof, Naz;
Yu-Wai-Man, Patrick;
Moosajee, Mariya;
(2024)
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.
Genes
, 15
(2)
, Article 188. 10.3390/genes15020188.
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Ito, Y;
Carss, KJ;
Duarte, ST;
Hartley, T;
Keren, B;
Kurian, MA;
Marey, I;
... Revel-Vilk, S; + view all
(2018)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
American Journal of Human Genetics
, 103
(1)
pp. 144-153.
10.1016/j.ajhg.2018.06.001.
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Jurkute, N;
D'Esposito, F;
Robson, AG;
Pitceathly, RDS;
Cordeiro, F;
Raymond, FL;
Moore, AT;
... Genomics England Research Consortium; + view all
(2021)
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Investigative Ophthalmology & Visual Science
, 62
(15)
, Article 12. 10.1167/iovs.62.15.12.
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Jurkute, N;
Harvey, J;
Yu-Wai-Man, P;
(2019)
Treatment strategies for Leber hereditary optic neuropathy.
Current Opinion in Neurology
, 32
(1)
pp. 99-104.
10.1097/WCO.0000000000000646.
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Jurkute, N;
Leu, C;
Pogoda, H-M;
Arno, G;
Robson, AG;
Nürnberg, G;
Altmüller, J;
... Votruba, M; + view all
(2019)
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Annals of Neurology
, 86
(3)
pp. 368-383.
10.1002/ana.25550.
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Jurkute, N;
Majander, A;
Bowman, R;
Votruba, M;
Abbs, S;
Acheson, J;
Lenaers, G;
... Yu-Wai-Man, P; + view all
(2019)
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
European Journal of Human Genetics
, 27
pp. 494-502.
10.1038/s41431-018-0235-y.
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Jurkute, N;
Shanmugarajah, PD;
Hadjivassiliou, M;
Higgs, J;
Vojcic, M;
Horrocks, I;
Nadjar, Y;
... Genomics England Research Consortium, .; + view all
(2021)
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Investigative Ophthalmology & Visual Science
, 62
(6)
, Article 2. 10.1167/iovs.62.6.2.
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Jurkute, N;
Yu-Wai-Man, P;
(2017)
Leber hereditary optic neuropathy: bridging the translational gap.
Current Opinion in Ophthalmology
, 28
(5)
pp. 403-409.
10.1097/ICU.0000000000000410.
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Karaa, A;
Rahman, S;
Lombes, A;
Yu-Wai-Man, P;
Sheikh, MK;
Alai-Hansen, S;
Cohen, BH;
... Goldstein, A; + view all
(2017)
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 403-414.
10.1007/s10545-017-0035-5.
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Kim, US;
Jurkute, N;
Yu, W-MP;
(2018)
Leber Hereditary Optic Neuropathy—Light at the End of the Tunnel?
Asia-Pacific Journal of Ophthalmology
, 7
(4)
pp. 242-245.
10.22608/APO.2018293.
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Kim, US;
Mahroo, OA;
Mollon, JD;
Yu-Wai-Man, P;
(2021)
Retinal Ganglion Cells—Diversity of Cell Types and Clinical Relevance.
Frontiers in Neurology
, 12
, Article 661938. 10.3389/fneur.2021.661938.
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Leo, Shaun;
Neveu, Magella M;
Yu-Wai-Man, Patrick;
Mahroo, Omar A;
Robson, Anthony G;
(2023)
The Diagnostic Accuracy of Photopic Negative Responses Evoked by Broadband and Chromatic Stimuli in a Clinically Heterogeneous Population.
Documenta Ophthalmologica
10.1007/s10633-023-09956-5.
(In press).
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Liao, C;
Ashley, N;
Diot, A;
Morten, K;
Phadwal, K;
Williams, A;
Fearnley, I;
... Poulton, J; + view all
(2017)
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Neurology
, 88
(2)
pp. 131-142.
10.1212/WNL.0000000000003491.
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Majander, A;
Bowman, R;
Poulton, J;
Antcliff, RJ;
Reddy, MA;
Michaelides, M;
Webster, AR;
... Yu-Wai-Man, P; + view all
(2017)
Childhood-onset Leber hereditary optic neuropathy.
British Journal of Ophthalmology
, 101
(11)
pp. 1505-1509.
10.1136/bjophthalmol-2016-310072.
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Majander, A;
João, C;
Rider, AT;
Henning, GB;
Votruba, M;
Moore, AT;
Yu-Wai-Man, P;
(2017)
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
Investigative Ophthalmology & Visual Science
, 58
(1)
pp. 502-516.
10.1167/iovs.16-20309.
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Majander, A;
Robson, AG;
João, C;
Holder, GE;
Chinnery, PF;
Moore, AT;
Votruba, M;
... Yu-Wai-Man, P; + view all
(2017)
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.
Mitochondrion
, 36
pp. 138-149.
10.1016/j.mito.2017.07.006.
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Moosajee, M;
Yu-Wai-Man, P;
Rouzier, C;
Bitner-Glindzicz, M;
Bowman, R;
(2016)
Clinical utility gene card for: Wolfram syndrome.
European Journal of Human Genetics
, 24
(11)
10.1038/ejhg.2016.49.
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Newman, NJ;
Yu-Wai-Man, P;
Carelli, V;
Biousse, V;
Moster, ML;
Vignal-Clermont, C;
Sergott, RC;
... Sahel, JA; + view all
(2021)
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison.
Frontiers in Neurology
, 12
, Article 662838. 10.3389/fneur.2021.662838.
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Newman, NJ;
Yu-Wai-Man, P;
Carelli, V;
Moster, ML;
Biousse, V;
Vignal-Clermont, C;
Sergott, RC;
... LHON Study Group, .; + view all
(2021)
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Ophthalmology
, 128
(5)
pp. 649-660.
10.1016/j.ophtha.2020.12.012.
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Petzold, A;
Albrecht, P;
Balcer, L;
Bekkers, E;
Brandt, AU;
Calabresi, PA;
Deborah, OG;
... IMSVISUAL, ERN-EYE Consortium; + view all
(2021)
Artificial intelligence extension of the OSCAR-IB criteria.
Annals of Clinical and Translational Neurology
10.1002/acn3.51320.
(In press).
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Petzold, A;
Biousse, V;
Bursztyn, L;
Costello, F;
Crum, A;
Digre, K;
Fraser, C;
... Hamann, S; + view all
(2020)
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).
Neuro-Ophthalmology
, 44
(6)
pp. 413-414.
10.1080/01658107.2020.1760891.
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Pontikos, N;
Arno, G;
Jurkute, N;
Schiff, E;
Ba-Abbad, R;
Malka, S;
Gimenez, A;
... Mahroo, OA; + view all
(2020)
Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom.
Ophthalmology
10.1016/j.ophtha.2020.04.008.
(In press).
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Sergouniotis, PI;
Maxime, E;
Leroux, D;
Olry, A;
Thompson, R;
Rath, A;
Robinson, PN;
... Zrenner, E; + view all
(2019)
An ontological foundation for ocular phenotypes and rare eye diseases.
[Letter].
Orphanet Journal of Rare Diseases
, 14
, Article 8. 10.1186/s13023-018-0980-6.
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Sitarz, KS;
Yu-Wai-Man, P;
Pyle, A;
Stewart, JD;
Rautenstrauss, B;
Seeman, P;
Reilly, MM;
... Chinnery, PF; + view all
(2012)
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Brain
, 135
(8)
, Article e219. 10.1093/brain/aws049.
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Sladen, PE;
Perdigão, PRL;
Salsbury, G;
Novoselova, T;
Van der Spuy, J;
Chapple, JP;
Yu-Wai-Man, P;
(2021)
CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs.
Molecular Therapy: Nucleic Acids
, 26
pp. 432-443.
10.1016/j.omtn.2021.08.015.
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Sommerville, EW;
Dalla Rosa, I;
Rosenberg, MM;
Bruni, F;
Thompson, K;
Rocha, M;
Blakely, EL;
... Gorman, GS; + view all
(2020)
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Clinical Genetics
, 97
(2)
pp. 276-286.
10.1111/cge.13652.
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Thaventhiran, JED;
Lango Allen, H;
Burren, OS;
Rae, W;
Greene, D;
Staples, E;
Zhang, Z;
... Smith, KGC; + view all
(2020)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
, 583
pp. 90-95.
10.1038/s41586-020-2265-1.
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Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
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Wei, W;
Tuna, S;
Keogh, MJ;
Smith, KR;
Aitman, TJ;
Beales, PL;
Bennett, DL;
... Chinnery, PF; + view all
(2019)
Germline selection shapes human mitochondrial DNA diversity.
Science
, 364
(6442)
, Article eaau6520. 10.1126/science.aau6520.
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Whitehead, Michael;
Harvey, Joshua P;
Sladen, Paul E;
Becchi, Giada;
Singh, Kritarth;
Sun, Yujiao Jennifer;
Burgoyne, Thomas;
... Cheetham, Michael E; + view all
(2025)
Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells.
Acta Neuropathologica Communications
, 13
(1)
, Article 28. 10.1186/s40478-025-01942-z.
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Whitehead, Michael;
Osborne, Andrew;
Yu-Wai-Man, Patrick;
Martin, Keith;
(2021)
Humoral immune responses to AAV gene therapy in the ocular compartment.
Biological Reviews
, 96
(4)
pp. 1616-1644.
10.1111/brv.12718.
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Yu-Wai-Man, P;
Newman, NJ;
Carelli, V;
La Morgia, C;
Biousse, V;
Bandello, FM;
Clermont, CV;
... LHON REALITY Study Group, .; + view all
(2021)
Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.
Eye
10.1038/s41433-021-01535-9.
(In press).
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