Using machine learning to impact on long-term clinical care: principles, challenges, and practicalities

JJ Ashton, A Young, MJ Johnson, RM Beattie - Pediatric Research, 2023 - nature.com
The rise of machine learning in healthcare has significant implications for paediatrics. Long-
term conditions with significant disease heterogeneity comprise large portions of the routine …

Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project

G Wheway… - Frontiers in …, 2019 - frontiersin.org
Cilia are highly specialized cellular organelles that serve multiple functions in human
development and health. Their central importance in the body is demonstrated by the …

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

JK Sandling, P Pucholt, LH Rosenberg… - Annals of the …, 2021 - ard.bmj.com
Objectives Systemic lupus erythematosus (SLE) is an autoimmune disease with extensive
heterogeneity in disease presentation between patients, which is likely due to an underlying …

Artificial intelligence, nutrition, and ethical issues: A mini-review

P Detopoulou, G Voulgaridou, P Moschos… - Clinical Nutrition Open …, 2023 - Elsevier
Background and aims Artificial intelligence (AI) has expanded applications in both medicine
and biomedical sciences, focusing on medical diagnosis, risk prediction of disease onset …

Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis

S Sirvent, AF Vallejo, E Corden, Y Teo, J Davies… - Nature …, 2023 - nature.com
Regulation of cutaneous immunity is severely compromised in inflammatory skin disease. To
investigate the molecular crosstalk underpinning tolerance versus inflammation in atopic …

Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative …

JJ Ashton, K Boukas, IS Stafford… - Inflammatory Bowel …, 2022 - academic.oup.com
Background Inflammatory bowel disease may arise with inadequate immune response to
intestinal bacteria. NOD2 is an established gene in Crohn's disease pathogenesis, with …

MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population

A Watson, RA Harris, AC Engevik… - Inflammatory Bowel …, 2025 - academic.oup.com
Background Genetic discovery in very early-onset inflammatory bowel disease (VEO-IBD)
can elucidate not only the origins of VEO-IBD, but also later-onset inflammatory bowel …

[HTML][HTML] Genetic sequencing of pediatric patients identifies mutations in monogenic inflammatory bowel disease genes that translate to distinct clinical phenotypes

JJ Ashton, E Mossotto, IS Stafford… - Clinical and …, 2020 - journals.lww.com
OBJECTIVES: Monogenic inflammatory bowel disease (IBD) comprises rare Mendelian
causes of gut inflammation, often presenting in infants with severe and atypical disease. This …

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies

EG Seaby, S Ennis - Briefings in functional genomics, 2020 - academic.oup.com
Next generation sequencing (NGS) has revolutionised rare disease diagnostics.
Concomitant with advancing technologies has been a rise in the number of new gene …

Understanding large scale sequencing datasets through changes to protein folding

D Shorthouse, H Lister, GS Freeman… - Briefings in Functional …, 2024 - academic.oup.com
The expansion of high-quality, low-cost sequencing has created an enormous opportunity to
understand how genetic variants alter cellular behaviour in disease. The high diversity of …