Centre for Human Genetics

CleanCTG: A deep learning model for multi-artefact detection and reconstruction in Cardiotocography

Wong S. et al, (2026), Biomedical Signal Processing and Control, 123, 110654 - 110654

The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review

McElwee F. et al, (2026), European Journal of Human Genetics

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG

de Villiers C. et al, (2026), Heart Rhythm, 23, 1289 - 1299

Spermidine Mitigates Immune Cell Senescence and Boosts Vaccine Responses in Healthy Older Adults—A Pilot Study

Alsaleh G. et al, (2026), Aging Cell, 25

Genetic role in autoimmune encephalitis and paraneoplastic neurological syndromes.

Binks SNM. et al, (2026), Current opinion in neurology, 39, 341 - 350

Exploring the psychosocial implications of general population screening for paediatric type 1 diabetes in Europe: Protocol for a mixed-methods study.

Boiko O. et al, (2026), Diabetic medicine : a journal of the British Diabetic Association, 43

Nucleophagy removes cytotoxic trapped PARP1.

Hoslett G. et al, (2026), Nature cell biology

Planetary Health Research Ethics: Why the Concept Falls Short.

Samuel G. et al, (2026), Am J Bioeth, 26, 18 - 20

Loop extrusion by cohesin plays a role in enhancer-activated gene expression early in differentiation

Stolper RJ. et al, (2026), Nature Communications

Structural analysis reveals high-order Nipah Virus Fusion Protein assemblies and interactions with neutralising nanobodies

Thrush JW. et al, (2026)

Transforming our future by unlocking the power of DNA: the representation of health-related genomic testing in UK news items.

Horton R. et al, (2026), Eur J Hum Genet

Biased estimates of phylogenetic branch lengths resulting from the discretised Gamma model of site rate heterogeneity

Ferretti L. et al, (2026), Systematic Biology

Benchmarking strain-level profiling of Escherichia coli in short-read gut metagenomes

Galbraith M. et al, (2026)

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rius R. et al, (2026), Nature Genetics

From clinical genetics to genomic-based public health screening programmes: duty-based ethics as a guide for responsible implementation

Carley H. and Slade I., (2026), European Journal of Human Genetics

AAV2 Crosslinks Actin Filaments: Implications for AAV Gene Therapy Vector Design.

Gulkis M. et al, (2026), bioRxiv

An Explainable Deep Learning Framework for Imaging Genetics: Deriving Brain-Genotype Scores From MRI to Link Genetic Variation, Brain Structure, and Cognition

Alhasani KT. et al, (2026)

Short RNA chaperones promote aggregation-resistant TDP-43 conformers to mitigate neurodegeneration

Copley KE. et al, (2026), Science New York N Y, 392

Enhanced adenoviral reactivity in Guillain-Barré syndrome after SARS-CoV-2 infection and vaccination

Bellanti R. et al, (2026), Brain, 149, 1718 - 1731

Delta‐Cell Area is Unchanged in Human Pregnancy: Evidence From Immunohistochemistry

Seedat F. et al, (2026), Biology of the Cell, 118

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