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Biology and Biochemistry

D-Index
55
Citations
12461
World Ranking
14938
National Ranking
1181

Overview

Patrick Yu-Wai-Man is affiliated with the University of Cambridge in the United Kingdom. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with significant contributions to Molecular Biology, Ophthalmology, Radiology, Nuclear Medicine and Imaging, Clinical Biochemistry, and Cellular and Molecular Neuroscience.

Their scientific work focuses on several key topics, including:

  • Mitochondrial Function and Pathology
  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • ATP Synthase and ATPases Research
  • Drug-Induced Ocular Toxicity
  • Photosynthetic Processes and Mechanisms
  • Ocular Diseases and Behçet's Syndrome

Patrick Yu-Wai-Man has published extensively in various venues, with a high number of papers appearing in:

  • Acta Ophthalmologica
  • Neurology
  • Journal of Neuro-Ophthalmology
  • Ophthalmology
  • Frontiers in Neurology

A selection of recent papers authored by Patrick Yu-Wai-Man and collaborators includes:

  • "Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs," 2020, New England Journal of Medicine
  • "Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom," 2020, Ophthalmology
  • "Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy," 2020, Science Translational Medicine
  • "APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies," 2021, Neurology
  • "Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset," 2021, Ophthalmology

Frequent co-authors collaborating with Patrick Yu-Wai-Man include:

  • Valério Carelli
  • Nancy J. Newman
  • Thomas Klopstock
  • Valérie Biousse
  • Magali Taiel

Best Publications

  • Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

    Gráinne S. Gorman;Andrew M. Schaefer;Yi Ng;Nicholas Gomez

  • Disturbed mitochondrial dynamics and neurodegenerative disorders

    Florence Burté;Valerio Carelli;Patrick F. Chinnery;Patrick Yu-Wai-Man

  • Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

    Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;Patrick F. Chinnery

  • A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

    Sylvie Bannwarth;Samira Ait-El-Mkadem;Annabelle Chaussenot;Emmanuelle C. Genin

  • Inherited mitochondrial optic neuropathies

    Patrick Yu-Wai-Man;Philip G Griffiths;Gavin Hudson;Patrick F Chinnery

  • Multi-system neurological disease is common in patients with OPA1 mutations

    Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;G. Gorman;C.-M. Lourenco

  • Universal heteroplasmy of human mitochondrial DNA

    Brendan A.I. Payne;Ian J. Wilson;Patrick Yu-Wai-Man;Jonathan Coxhead

  • Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

    Gavin Hudson;Valerio Carelli;Valerio Carelli;Liesbeth Spruijt;Mike Gerards

  • Gene-environment interactions in Leber hereditary optic neuropathy.

    Matthew Anthony Kirkman;Patrick Yu-Wai-Man;Patrick Yu-Wai-Man;Alex Korsten;Miriam Leonhardt

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

    Carla Giordano;Luisa Iommarini;Luca Giordano;Alessandra Maresca

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs

    Dan Milea;Dan Milea;Raymond P. Najjar;Raymond P. Najjar;Jiang Zhubo;Daniel Ting;Daniel Ting

  • OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

    Ghizlane Elachouri;Sara Vidoni;Claudia Zanna;Alexandre Pattyn

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

    Gavin Hudson;Sharon Keers;Patrick Yu Wai Man;Philip Griffiths

  • The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

    Patrick Yu-Wai-Man;Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;Ailbhe Burke;Peter W. Sellar

  • International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

    Valerio Carelli;Michele Carbonelli;Irenaeus F. de Coo;Aki Kawasaki

  • New treatments for mitochondrial disease—no time to drop our standards

    Gerald Pfeffer;Rita Horvath;Thomas Klopstock;Vamsi K. Mootha

  • Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

    Gerald Pfeffer;Gráinne S Gorman;Helen Griffin;Marzena Kurzawa-Akanbi

Frequent Co-Authors

Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
Rita Horvath
Rita Horvath University of Cambridge
Valerio Carelli
Valerio Carelli University of Bologna
Robert W. Taylor
Robert W. Taylor Newcastle University
Thomas Klopstock
Thomas Klopstock Ludwig-Maximilians-Universität München
Nancy J. Newman
Nancy J. Newman Emory University
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Angela Pyle
Angela Pyle Newcastle University
José-Alain Sahel
José-Alain Sahel University of Pittsburgh
Alfredo A. Sadun
Alfredo A. Sadun University of California, Los Angeles

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