Mark J Caulfield

38PUBLICATIONS
708CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)PharmacogenomicsEnvironmental epidemiologyGene expression (incl. microarray and other genome-wide approaches)Cancer genetics
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Publications (38)

|Sep 09, 2026
Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

|Apr 23, 2026
Cardiovascular prescriber attitudes to pharmacogenomics: a survey by the ESC working group on cardiovascular pharmacotherapy.

|Nov 13, 2025
Family health history and pharmacogenomics show cross generation premature amitriptyline discontinuation is associated with CYP2C19 loss of-function enrichment.

Emma F Magavern, Gabriel Marengo, Maia Megase

|May 29, 2025
Predicting expression-altering promoter mutations with deep learning.

Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

|Oct 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani

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Frequent Collaborators

11 joint publications

Caroline Hayward

9 joint publications

Εvangelos Εvangelou

9 joint publications

James G Wilson

9 joint publications

Mike Boehnke