World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
80
Citations
24799
World Ranking
1579
National Ranking
203

Medicine

D-Index
81
Citations
25008
World Ranking
16603
National Ranking
1515

Overview

Graeme C.M. Black is affiliated with the University of Manchester in the United Kingdom. Their research spans multiple fields centered on biochemistry, genetics, molecular biology, and medicine, with a significant focus on ophthalmology and retinal disorders. The scientist has contributed extensively to understanding retinal development, diseases, and treatments, as well as genetic and molecular aspects of eye conditions.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

The subfields within these areas cover:

  • Molecular Biology
  • Ophthalmology
  • Genetics
  • Radiology, Nuclear Medicine and Imaging
  • Cell Biology

Key research topics addressed in their work are:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Glaucoma and retinal disorders
  • Retinal Imaging and Analysis
  • RNA regulation and disease
  • Genomics and Rare Diseases
  • Melanin and skin pigmentation

Graeme C.M. Black has collaborated frequently with a number of co-authors over the course of their career. Notable frequent co-authors include:

  • Panagiotis I. Sergouniotis
  • Jamie M. Ellingford
  • Paul J. Foster
  • Anthony P. Khawaja
  • Andrew Lotery

The scientist has a publication record in several key venues, where they have published multiple articles. Frequent venues include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Medical Genetics
  • Eye
  • Orphanet Journal of Rare Diseases
  • Ophthalmology

Selected recent papers by Graeme C.M. Black are:

  • A foundation model for generalizable disease detection from retinal images, 2023, Nature
  • Whole-genome sequencing of patients with rare diseases in a national health system, 2020, Nature
  • Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR, 2020, Nature Medicine
  • Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa, 2020, The American Journal of Human Genetics
  • Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy, 2020, Journal of Neuro-Ophthalmology

Best Publications

  • LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

    Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi

  • Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies

    Yingjuan Liu;Sen Chen;Liesl Zühlke;Graeme C Black;Graeme C Black

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

    Robert E MacLaren;Robert E MacLaren;Markus Groppe;Markus Groppe;Alun R Barnard;Charles L Cottriall

  • Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

    Carmel Toomes;Helen M. Bottomley;Richard M. Jackson;Katherine V. Towns

  • Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

    Susmito Biswas;Francis L. Munier;Jill Yardley;Niki Hart-Holden

  • Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

    Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler

  • Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

    Sibel Kantarci;Lihadh Al-Gazali;R Sean Hill;R Sean Hill;Dian Donnai

  • Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

    David Ng;Nalin Thakker;Connie M Corcoran;Dian Donnai

  • Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

    Rosemary Burgess;Rosemary Burgess;Ian D. Millar;Bart P. Leroy;Jill E. Urquhart;Jill E. Urquhart

  • Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

    Jennifer J. Johnston;Isabelle Olivos-Glander;Christina Killoran;Emma Elson

  • Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

    Robyn V. Jamieson;Rahat Perveen;Bronwyn Kerr;Martin Carette

  • Angelman syndrome phenotype associated with mutations in MECP2 , a gene encoding a methyl CpG binding protein

    Pamela Watson;Graeme Black;Simon Ramsden;Margaret Barrow

  • Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

    Beverley H Anderson;Paul R Kasher;Josephine Mayer;Marcin Szynkiewicz

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

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

    Jasmina Cehajic-Kapetanovic;Kanmin Xue;Cristina Martinez-Fernandez de la Camara;Anika Nanda

  • Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

    Tracy A. Briggs;Gillian I. Rice;Sarah Daly;Jill Urquhart

  • Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

    B. Kerr;M. A. Delrue;S. Sigaudy;R. Perveen

  • Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

    Jill Yardley;Bart P Leroy;Niki Hart-Holden;Bart A Lafaut

  • Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: A role for norrin in retinal angiogenesis

    Graeme C. M. Black;Graeme C. M. Black;Rahat Perveen;Richard Bonshek;Richard Bonshek;Mark Cahill

Frequent Co-Authors

Andrew R. Webster
Andrew R. Webster University College London
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
William G. Newman
William G. Newman University of Manchester
Anthony T. Moore
Anthony T. Moore University of California, San Francisco
Graham E. Holder
Graham E. Holder University College London
Chris F. Inglehearn
Chris F. Inglehearn University of Leeds
Peter E. Clayton
Peter E. Clayton University of Manchester
Dian Donnai
Dian Donnai University of Manchester
Paul N. Bishop
Paul N. Bishop University of Manchester
Miguel C. Seabra
Miguel C. Seabra Universidade Nova de Lisboa

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring a career in genetics can open doors to a wide range of related healthcare fields. Many students interested in genetics also consider nursing or healthcare administration as alternative or complementary pathways.

For those seeking a medical career with a practical focus, there are nursing school without entrance exam options available, removing barriers and simplifying the admission process. Alternatively, lpn fast track program options allow students to quickly transition into nursing and gain hands-on clinical experience.

Those interested in healthcare policy, management, or leadership can explore an affordable online master's in healthcare administration. This path equips graduates for roles in hospital management, research administration, and healthcare consulting.

If you’re considering advancing your education, a nursing phd programs can lead to careers in research, teaching, or advanced practice. These related options allow for interdisciplinary growth and flexibility in shaping your unique career in healthcare and life sciences.

Best Scientists Citing Graeme C.M. Black

Trending Scientists

Recently Published Articles