Skip to Main Content

Author Details

Patrick Yu-Wai-Man
University of Cambridge
2002
196
46
PMIDPaper TitleJournal TitlePublished Year
36155660Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.Lancet Neurol2023
37974363OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.J Neuroophthalmol2023
35439212Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.J Neuroophthalmol2023
37185957Mitochondria and the eye-manifestations of mitochondrial diseases and their management.Eye (Lond)2023
37386155Immunobiology of a rationally-designed AAV2 capsid following intravitreal delivery in mice.Gene Ther2023
37184970Blurred Disc Margins.J Neuroophthalmol2023
36813316Mitochondrial optic neuropathies.Handb Clin Neurol2023
36543315Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.Am J Ophthalmol2023
36496192Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic Neuropathy.Am J Ophthalmol2023
36702948Early detection of visual impairment in young children using a smartphone-based deep learning system.Nat Med2023
36662512Psychometric Validity of the Visual Function Index in Leber Hereditary Optic Neuropathy.Transl Vis Sci Technol2023
36927155<i>OPA1</i> disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.Proc Natl Acad Sci U S A2023
36350566Randomized trial of bilateral gene therapy injection for m.11778G&gt;A MT-ND4 Leber optic neuropathy.Brain2023
34006618WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.J Med Genet2022
35652445Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.Hum Mol Genet2022
35469785WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.Am J Ophthalmol2022
35534703Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.Eur J Hum Genet2022
35820885Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report.BMC Neurol2022
35483081The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study.J Neuroophthalmol2022
36510411Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.Neuroimage Clin2022
36414808Developments in the Treatment of Leber Hereditary Optic Neuropathy.Curr Neurol Neurosci Rep2022
36109638A digital mask to safeguard patient privacy.Nat Med2022
35863905From Bench to Bedside-Delivering Gene Therapy for Leber Hereditary Optic Neuropathy.Cold Spring Harb Perspect Med2022
34936137Characterization of Retinal Architecture in Spinocerebellar Ataxia Type 3 and Correlation with Disease Severity.Mov Disord2022
35024911Capturing the experiences of patients with inherited optic neuropathies: a systematic review of patient-reported outcome measures (PROMs) and qualitative studies.Graefes Arch Clin Exp Ophthalmol2022
34924522Vessel Volume Rendering Quantifies Disease Conversion and Progression in Leber Hereditary Optic Neuropathy.J Neuroophthalmol2022
35047497OPA1 Modulates Mitochondrial Ca<sup>2+</sup> Uptake Through ER-Mitochondria Coupling.Front Cell Dev Biol2022
34629400Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.J Neuroophthalmol2022
34352303Spatial Technology Assessment of Green Space Exposure and Myopia.Ophthalmology2022
32430343Comparison of macular structural and vascular changes in neuromyelitis optica spectrum disorder and primary open angle glaucoma: a cross-sectional study.Br J Ophthalmol2021
37181110Wolfram syndrome: new pathophysiological insights and therapeutic strategies.Ther Adv Rare Dis2021
33910937APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies.Neurology2021
33883237[[11]C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease.Neurology2021
33620373Associations Between Regional Environment and Cornea-Related Morphology of the Eye in Young Adults: A Large-Scale Multicenter Cross-Sectional Study.Invest Ophthalmol Vis Sci2021
33837614Humoral immune responses to AAV gene therapy in the ocular compartment.Biol Rev Camb Philos Soc2021
33745530Mitochondrial Disorders and the Eye: A New Era for Diagnosis.Ophthalmology2021
34905022SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.Invest Ophthalmol Vis Sci2021
34589289CRISPR-Cas9 correction of <i>OPA1</i> c.1334G&gt;A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs.Mol Ther Nucleic Acids2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34584057Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy.Int Ophthalmol Clin2021
34466801Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.Brain Commun2021
34729378Biodistribution of intravitreal <sup>lenadogene</sup> nolparvovec gene therapy in nonhuman primates.Mol Ther Methods Clin Dev2021
34491178[Leber hereditary optic neuropathy: Bilateral improvement of visual acuity following gene therapy by unilateral injection].Med Sci (Paris)2021
34656549Quantifying inter-organelle membrane contact sites using proximity ligation assay in fixed optic nerve sections.Exp Eye Res2021
34415265Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.J Neuroophthalmol2021
34650143A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.Sci Rep2021
33938912Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.Invest Ophthalmol Vis Sci2021
34014035High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.EMBO Mol Med2021
34093409Retinal Ganglion Cells-Diversity of Cell Types and Clinical Relevance.Front Neurol2021
34056600Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophy.Brain Commun2021
  • 1 - 50 of 196

Recommended Authors

Aurore Mensah
Rigshospitalet-Glostrup Valdemar Hansens Vej 1-23
Career Start Year 2009
Number of shared co-authors 1
Panagiotis I Sergouniotis
University of Manchester
Career Start Year 2009
Number of shared co-authors 27
Adam P DeLuca
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2008
Number of shared co-authors 1
Shyamanga Borooah
Shiley Eye Institute, University of California
Career Start Year 2007
Number of shared co-authors 6
Abigail T Fahim
University of Michigan (A.T.F.) ann arbor
Career Start Year 2007
Number of shared co-authors 3
Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
Career Start Year 2006
Number of shared co-authors 14
Jennifer R Chao
University of Washington
Career Start Year 2006
Number of shared co-authors 0
Raed Behbehani
Ibn Sina Hospital
Career Start Year 2004
Number of shared co-authors 17
Hoai Viet Tran
University Eye Hospital Jules Gonin
Career Start Year 2002
Number of shared co-authors 5
Sylvain Hanein
Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University
Career Start Year 2001
Number of shared co-authors 3
Alex W Hewitt
Menzies Institute for Medical Research, University of Tasmania
Career Start Year 2001
Number of shared co-authors 13
Carlos E Mendoza-Santiesteban
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine
Career Start Year 1999
Number of shared co-authors 1
Mark E Pennesi
Casey Eye Institute at Oregon Health & Science University (OHSU)
Career Start Year 1998
Number of shared co-authors 7
Jacque L Duncan
University of California san francisco
Career Start Year 1998
Number of shared co-authors 6
Martin McKibbin
Leeds Teaching Hospitals NHS Trust
Career Start Year 1995
Number of shared co-authors 17
Andrew J Lotery
University of Southampton
Career Start Year 1994
Number of shared co-authors 20
Radha Ayyagari
Shiley Eye Institute, University of California San Diego
Career Start Year 1993
Number of shared co-authors 7
H??l??ne Dollfus
Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg
Career Start Year 1992
Number of shared co-authors 24
Jamie E Craig
Flinders Medical Centre, Flinders University
Career Start Year 1992
Number of shared co-authors 10
Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Career Start Year 1991
Number of shared co-authors 34
Carel B Hoyng
Radboud University Medical Center
Career Start Year 1989
Number of shared co-authors 17
Nicola K Ragge
Oxford Brookes University
Career Start Year 1987
Number of shared co-authors 14
Kang Zhang
College of Animal Science and Technology, Guangxi University
Career Start Year 1987
Number of shared co-authors 13
Byron L Lam
Bascom Palmer Eye Institute
Career Start Year 1986
Number of shared co-authors 4
Arlene V Drack
University of Iowa Carver College of Medicine
Career Start Year 1984
Number of shared co-authors 1
Edwin M Stone
Carver College of Medicine, University of Iowa, USA Institute for Vision Research
Career Start Year 1983
Number of shared co-authors 6
Michael B Gorin
Jules Stein Eye Institute
Career Start Year 1979
Number of shared co-authors 9
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Career Start Year 1978
Number of shared co-authors 27
Anand Swaroop
National Eye Institute, National Institutes of Health
Career Start Year 1967
Number of shared co-authors 9
Richard G Weleber
Casey Eye Institute, Oregon Health & Science University
Career Start Year 1967
Number of shared co-authors 9

Collaborators

Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 83
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 31
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 21
Douglass M Turnbull
Newcastle University
Co-authored papers 16
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 14
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 11
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 9
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 9
Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 8
Michel Michaelides
Institute of Ophthalmology, University College London
Co-authored papers 7
Haotian Lin
Hainan Eye Hospital and Key Laboratory of Ophthalmology, Sun Yat-sen University
Co-authored papers 6
Robert McFarland
Newcastle University
Co-authored papers 6
Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
Co-authored papers 6
Andrew M Schaefer
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 4
Maria Bitner-Glindzicz
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 4
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
Yi Shiau Ng
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Nikolas Pontikos
Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London
Co-authored papers 3
Andrew C Browning
Royal Victoria Infirmary
Co-authored papers 3
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 3
David C Samuels
Vanderbilt University
Co-authored papers 3
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 2
Sumit Parikh
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 2
Alan F Wright
Co-authored papers 2
Daniel S W Ting
Singapore Eye Research Institute
Co-authored papers 2
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 2
Tien Yin Wong
Tsinghua University
Co-authored papers 2
Hubert J M Smeets
Maastricht University Medical Centre+
Co-authored papers 2
Vamsi K Mootha
Broad Institute of MIT and Harvard
Co-authored papers 2
Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
Co-authored papers 2
Release 1.2