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Genetics

D-Index
42
Citations
10268
World Ranking
4307
National Ranking
488

Overview

Mark O'Driscoll is affiliated with the University of Sussex in the United Kingdom and has contributed to research primarily within the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Their work encompasses several subfields including Molecular Biology, Genetics, Oncology, Clinical Biochemistry, and Immunology.

The scientist's research topics cover a range of areas: signaling pathways in disease, PARP inhibition in cancer therapy, genetics and neurodevelopmental disorders, metabolism and genetic disorders, mitochondrial function and pathology, blood disorders and treatments, as well as immunodeficiency and autoimmune disorders.

Notable recent publications by Mark O'Driscoll include:
• "DTYMK is essential for genome integrity and neuronal survival" (2021), published in Acta Neuropathologica
• "Homozygous DBF4 mutation as a cause of severe congenital neutropenia" (2023), published in Journal of Allergy and Clinical Immunology
• "A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex" (2024), published in EMBO Reports
• "The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles" (2023), published in Oncotarget
• "A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex" (2023), published in bioRxiv (Cold Spring Harbor Laboratory)

The scientist frequently collaborates with several coauthors including Rita Colnaghi, Marisa Bedir, Emily Outwin, Lydia Bassett, and I Abramowiçz.

Mark O'Driscoll's work has appeared in various publication venues including Acta Neuropathologica, Journal of Allergy and Clinical Immunology, EMBO Reports, Oncotarget, and bioRxiv (Cold Spring Harbor Laboratory).

Best Publications

  • ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation.

    Tom Stiff;Mark O’Driscoll;Nicole Rief;Kuniyoshi Iwabuchi

  • A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

    Mark O'Driscoll;Victor L Ruiz-Perez;C Geoffrey Woods;Penny A Jeggo

  • The role of double-strand break repair - insights from human genetics

    Mark O'Driscoll;Penny A. Jeggo

  • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  • DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

    Mark O'Driscoll;Karen M. Cerosaletti;Pierre M. Girard;Yan Dai

  • ATR‐dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

    Thomas Stiff;Sarah A Walker;Karen Cerosaletti;Aaron A Goodarzi

  • Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

    Elen Griffith;Sarah Walker;Carol-Anne Martin;Paola Vagnarelli

  • Unmasking a killer: DNA O(6)-methylguanine and the cytotoxicity of methylating agents

    M. Bignami;M. O'Driscoll;G. Aquilina;P. Karran

  • Nbs1 is required for ATR-dependent phosphorylation events

    Thomas Stiff;Caroline Reis;Gemma K Alderton;Lisa Woodbine

  • Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway

    Gemma K. Alderton;Hans Joenje;Raymonda Varon;Anders D. Børglum

  • Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

    Louise S. Bicknell;Sarah Walker;Anna Klingseisen;Tom Stiff

  • An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-seckel syndrome

    Mark O'Driscoll;A. R. Gennery;J Seidel;P. Concannon

  • Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

    Gemma K Alderton;Laura Galbiati;Elen Griffith;Kathatrina H Surinya

  • Mutations in PIK3R1 Cause SHORT Syndrome

    David A. Dyment;Amanda C. Smith;Diana Alcantara;Jeremy A. Schwartzentruber

  • Diseases Associated with Defective Responses to DNA Damage

    Mark O’Driscoll

  • Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

    Laura M McDonell;Ghayda M Mirzaa;Diana Alcantara;Jeremy Schwartzentruber

  • The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.

    Rita Colnaghi;Gillian Carpenter;Marcel Volker;Mark O'Driscoll

  • Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

    Felicity Payne;Rita Colnaghi;Nuno Rocha;Asha Seth

  • Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

    Tomoo Ogi;Sarah Walker;Tom Stiff;Emma Hobson

  • The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders.

    Mark O’Driscoll;Penny A. Jeggo

Frequent Co-Authors

Penny A. Jeggo
Penny A. Jeggo University of Sussex
William B. Dobyns
William B. Dobyns University of Minnesota
Andrew P. Jackson
Andrew P. Jackson University of Edinburgh
A. Micheil Innes
A. Micheil Innes University of Calgary
Andrew R. Gennery
Andrew R. Gennery Newcastle University
Kym M. Boycott
Kym M. Boycott Children's Hospital of Eastern Ontario
Patrick Concannon
Patrick Concannon University of Florida
Jacek Majewski
Jacek Majewski McGill University
Robert K. Semple
Robert K. Semple University of Edinburgh
Inês Barroso
Inês Barroso University of Exeter

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