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Medicine
UK
2025
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Genetics
UK
2024

D-Index & Metrics

Genetics

D-Index
152
Citations
81292
World Ranking
129
National Ranking
23

Medicine

D-Index
153
Citations
83288
World Ranking
1047
National Ranking
110

Research.com Recognitions

  • 2025 - Research.com Medicine in United Kingdom Leader Award
  • 2024 - Research.com Genetics in United Kingdom Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in United Kingdom Leader Award
  • 2023 - Research.com Genetics in United Kingdom Leader Award

Overview

Eamonn R. Maher is affiliated with the University of Cambridge in the United Kingdom. Their research spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Within these broader disciplines, their work focuses on several subfields including Molecular Biology, Genetics, Pulmonary and Respiratory Medicine, Surgery, and Cancer Research.

The scientist's main research topics include:

  • Renal and related cancers
  • Epigenetics and DNA Methylation
  • Renal cell carcinoma treatment
  • Adrenal and Paraganglionic Tumors
  • Cancer, Hypoxia, and Metabolism
  • Genetic Syndromes and Imprinting
  • Genomic variations and chromosomal abnormalities

Maher has contributed to several recent publications, notable for their relevance to cancer prevention, genetic syndromes, and tumour surveillance. Some of these are:

  • Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial, 2020, The Lancet
  • Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome, 2020, European Journal of Human Genetics
  • Predisposition to cancer in children and adolescents, 2021, The Lancet Child & Adolescent Health
  • ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1, 2023, EClinicalMedicine
  • COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review, 2020, Ultrasound in Obstetrics and Gynecology

Their frequent collaborators include:

  • Ruth Casey
  • Emma R. Woodward
  • Marc Tischkowitz
  • Jose-Ezequiel Martín
  • Anne-Paule Gimenez-Roqueplo

Several journals have been frequent publication venues for Maher's work, indicating areas of ongoing research and contributions. These venues include:

  • European Journal of Human Genetics
  • Journal of Medical Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Molecular Genetics
  • Ultrasound in Obstetrics and Gynecology

Best Publications

  • The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

    Patrick H. Maxwell;Michael S. Wiesener;Gin-Wen Chang;Steven C. Clifford

  • Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

    Matthew E. Cockman;Norma Masson;David R. Mole;Panu Jaakkola

  • Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

    Dewi Astuti;Farida Latif;Ashraf Dallol;Patricia L.M. Dahia

  • Clinical Features and Natural History of von Hippel-Lindau Disease

    E R Maher;J R Yates;R Harries;Caroline Benjamin

  • Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

    John Burn;Anne Marie Gerdes;Finlay MacRae;Jukka Pekka Mecklin

  • Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

    Michael L. Nickerson;Michelle B. Warren;Jorge R. Toro;Vera Matrosova

  • VHL, the story of a tumour suppressor gene

    Lucy Gossage;Tim Eisen;Eamonn R. Maher

  • von Hippel–Lindau disease: A clinical and scientific review

    Eamonn R. Maher;Hartmut P.H. Neumann;Stéphane Richard

  • Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

    E R Maher;L A Brueton;S C Bowdin;A Luharia

  • von Hippel-Lindau Disease

    Eamonn R. Maher;William G. Kaelin

  • Von Hippel-Lindau disease: a genetic study.

    E R Maher;L Iselius;J R Yates;M Littler

  • Familial gastric cancer: overview and guidelines for management*

    Carlos Caldas;Fatima Carneiro;Henry T Lynch;Jun Yokota

  • An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

    Francien H van Nederveen;José Gaal;Judith Favier;Esther Korpershoek

  • Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

    Jenny Lord;Dominic J McMullan;Ruth Y Eberhardt;Gabriele Rinck

  • A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

    Ian P.M. Tomlinson;Emily Webb;Luis Carvajal-Carmona;Peter Broderick

  • Birt-Hogg-Dubé syndrome: diagnosis and management

    Fred H Menko;Maurice Am van Steensel;Sophie Giraud;Lennart Friis-Hansen

  • HIF activation identifies early lesions in VHL kidneys: Evidence for site-specific tumor suppressor function in the nephron

    Stefano J Mandriota;Kevin J Turner;David R Davies;Paul G Murray

  • Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

    Berton Zbar;Takeshi Kishida;Fan Chen;Laura Schmidt

  • PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    Neil V Morgan;Shawn K Westaway;Jenny E V Morton;Allison Gregory

  • Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours.

    Angelo Agathanggelou;Sofia Honorio;Donia P Macartney;Alonso Martinez

Frequent Co-Authors

Farida Latif
Farida Latif University of Birmingham
Neil V. Morgan
Neil V. Morgan University of Birmingham
Paul Gissen
Paul Gissen University College London
Richard C. Trembath
Richard C. Trembath King's College London
Charis Eng
Charis Eng Cleveland Clinic Lerner College of Medicine
Manju A. Kurian
Manju A. Kurian University College London
Anthony T. Moore
Anthony T. Moore University of California, San Francisco
Colin A. Johnson
Colin A. Johnson University of Leeds
D. Gareth Evans
D. Gareth Evans University of Manchester
Wolf Reik
Wolf Reik Babraham Institute

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