World's Best Scientists 2026 revealed!
Julian Roy Sampson

Julian Roy Sampson

D-Index & Metrics

Genetics

D-Index
84
Citations
32205
World Ranking
1350
National Ranking
175

Medicine

D-Index
90
Citations
35740
World Ranking
12076
National Ranking
1141

Overview

Julian Roy Sampson is affiliated with Cardiff University in the United Kingdom and has contributed extensively to research within medicine and biochemistry, genetics, and molecular biology fields. Their work focuses primarily on pathology and forensic medicine, oncology, cancer research, molecular biology, and genetics, with a strong emphasis on colorectal cancer and its genetic factors.

The scientist's main topics of research include:

  • Genetic factors in colorectal cancer
  • Cancer genomics and diagnostics
  • Colorectal cancer screening and detection
  • Colorectal and anal carcinomas
  • Colorectal cancer treatments and studies
  • DNA repair mechanisms
  • Multiple and secondary primary cancers

Sampson has coauthored frequently with several researchers, indicating ongoing collaborative efforts in their research domain. Frequent coauthors include:

  • Toni T. Seppälä
  • Mev Dominguez-Valentin
  • Pål Møller
  • John Burn
  • Gabriela Möslein

The scientist's work has been published in several academic venues, with Genetics in Medicine being the most frequent publication outlet. Other notable venues include:

  • Genetics in Medicine
  • Nature Communications
  • Hereditary Cancer in Clinical Practice
  • Familial Cancer
  • British Journal of Surgery

Important papers associated with Julian Roy Sampson cover topics such as diagnostic criteria, cancer prevention, clinical guidelines, molecular signaling, and cancer surveillance. Selected publications include:

  • Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations (2021, Pediatric Neurology)
  • 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)
  • European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender (2020, British Journal of Surgery)
  • G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling (2021, Cell)
  • The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance (2020, International Journal of Cancer)

The research undertaken by Sampson contributes to understanding genetic contributions to colorectal cancer and involves clinical implications for diagnosis, prevention, and treatment strategies, particularly within hereditary cancer syndromes like Lynch syndrome. Their multidisciplinary approach integrates molecular biology with clinical research.

Best Publications

  • Identification and characterization of the tuberous sclerosis gene on chromosome 16

    Mark Nellist;Bart Janssen;Phillip T. Brook-Carter;Arjenne L. W. Hesseling-Janssen

  • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

    Marjon van Slegtenhorst;Ronald de Hoogt;Caroline Hermans;Mark Nellist

  • Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

    Nada Al-Tassan;Nikolas H. Chmiel;Julie Helen Maynard;Nick Fleming

  • THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

    Christopher Ward;Belén Peral;Jim Hughes;Siep Thomas

  • Peutz–Jeghers syndrome: a systematic review and recommendations for management

    A. D. Beggs;A. R. Latchford;H. F. A. Vasen;G. Moslein

  • Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

    Hans F A Vasen;Ignacio Blanco;Katja Aktan-Collan;Jessica P Gopie

  • Guidelines for the clinical management of familial adenomatous polyposis (FAP)

    H. F. A Vasen;G. Moslein;A. Alonso;S. Aretz

  • Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

    Hans F.A. Vasen;Gabriele Möslein;Angel Alonso;Inge Bernstein

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

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

  • Von Hippel-Lindau disease: a genetic study.

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

  • Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products

    Marjon van Slegtenhorst;Mark Nellist;Bas Nagelkerken;Jeremy Cheadle

  • Tuberous sclerosis complex

    Elizabeth P. Henske;Sergiusz Jóźwiak;J. Christopher Kingswood;Julian Roy Sampson

  • Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

    Alistair C. Jones;Magitha M. Shyamsundar;Meinir W. Thomas;Julie Helen Maynard

  • Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome

    Phillip T. Brook-Carter;Belén Peral;Christopher J. Ward;Peter Thompson

  • Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

    Pål Møller;Toni T Seppälä;Inge Bernstein;Inge Bernstein;Elke Holinski-Feder

  • Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

    Pal Moller;Toni Seppala;Inge Bernstein;Inge Bernstein;Elke Holinski-Feder

  • Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

    Julian Roy Sampson;Sunil Dolwani;Sian Jones;Diana Eccles

  • Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

    D. Trump;B. Farren;C. Wooding;J.T. Pang

  • Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

    Mev Dominguez-Valentin;Julian R. Sampson;Toni T. Seppälä;Sanne W. ten Broeke

  • Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

    Sian Jones;Paul Emmerson;Julie Helen Maynard;Jacqueline M. Best

Frequent Co-Authors

Jeremy Peter Cheadle
Jeremy Peter Cheadle Cardiff University
John Burn
John Burn Newcastle University
Pål Møller
Pål Møller Oslo University Hospital
Hans F. A. Vasen
Hans F. A. Vasen Leiden University
Gabriel Capellá
Gabriel Capellá Institut d'Investigació Biomédica de Bellvitge
D. Gareth Evans
D. Gareth Evans University of Manchester
Jukka-Pekka Mecklin
Jukka-Pekka Mecklin University of Jyväskylä
Fiona Lalloo
Fiona Lalloo University of Manchester
Eivind Hovig
Eivind Hovig University of Oslo
Frederik J. Hes
Frederik J. Hes Vrije Universiteit Brussel

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