Mark Caulfield
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Explore the profile of Mark Caulfield including associated specialties, affiliations and a list of published articles.
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88
Citations
13193
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Recent Articles
1.
Cipriani V, Vestito L, Magavern E, Jacobsen J, Arno G, Behr E, et al.
Nature
. 2025 Feb;
PMID: 40011789
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing, with many probably involving pathogenic variants in yet to be discovered disease-gene associations. To search for such associations,...
2.
Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need A, et al.
Nat Genet
. 2024 Aug;
56(9):1800-1803.
PMID: 39134668
We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples...
3.
Dominiczak A, Padmanabhan S, Caulfield M, Sutherland K, Wang J, Jones J
Camb Prism Precis Med
. 2024 Mar;
1:e20.
PMID: 38550942
No abstract available.
4.
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, et al.
Nat Med
. 2024 Jan;
30(1):279-289.
PMID: 38200255
The Cancer Programme of the 100,000 Genomes Project was an initiative to provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities for precision cancer care within the UK National...
5.
Cipriani V, Vestito L, Magavern E, Jacobsen J, Arno G, Behr E, et al.
medRxiv
. 2024 Jan;
PMID: 38196618
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and...
6.
Tesi B, Boileau C, Boycott K, Canaud G, Caulfield M, Choukair D, et al.
J Intern Med
. 2023 May;
294(4):397-412.
PMID: 37211972
Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood as tailoring an individual's treatment, follow-up, and care based on molecular data. In rare diseases (RDs), molecular diagnoses reveal...
7.
Horgan D, Borisch B, Cattaneo I, Caulfield M, Chiti A, Chomienne C, et al.
Int J Environ Res Public Health
. 2022 Feb;
19(3).
PMID: 35162696
The potential for the use of real-world data (RWD) to generate real-world evidence (RWE) that can inform clinical decision-making and health policy is increasingly recognized, albeit with hesitancy in some...
8.
Smedley D, Smith K, Martin A, Thomas E, McDonagh E, Cipriani V, et al.
N Engl J Med
. 2021 Nov;
385(20):1868-1880.
PMID: 34758253
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of...
9.
Schon K, Horvath R, Wei W, Calabrese C, Tucci A, Ibanez K, et al.
BMJ
. 2021 Nov;
375:e066288.
PMID: 34732400
Objective: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Design: Cohort study. Setting: National Health Service, England, including secondary and...
10.
Hyder Z, Calpena E, Pei Y, Tooze R, Brittain H, Twigg S, et al.
Genet Med
. 2021 Aug;
23(12):2360-2368.
PMID: 34429528
Purpose: Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic...