Search results (67)
« Back to PublicationsBiologically Inspired Digital Histology for Deep Phenotyping of Placental Composition Changes Across Major Lesion Types.
Preprint
Walker EC. et al, (2025)
BCL11B-related disease: a single phenotypic entity?
Journal article
Vedovato-Dos-Santos JH. et al, (2025), European journal of human genetics : EJHG, 33, 451 - 460
Ribosome phenotypes for rapid classification of antibiotic-susceptible and resistant strains of Escherichia coli.
Journal article
Farrar A. et al, (2025), Communications biology, 8
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal article
Lesmann H. et al, (2024), medRxiv
Rapid identification of bacterial isolates using microfluidic adaptive channels and multiplexed fluorescence microscopy.
Journal article
Chatzimichail S. et al, (2024), Lab on a chip, 24, 4843 - 4858
Infection Inspection: using the power of citizen science for image-based prediction of antibiotic resistance in Escherichia coli treated with ciprofloxacin.
Journal article
Farrar A. et al, (2024), Scientific reports, 14
Enhancing Cross-Institute Generalisation of GNNs in Histopathology Through Multiple Embedding Graph Augmentation (MEGA)
Conference paper
Campbell J. et al, (2024)
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Preprint
Lesmann H. et al, (2024)
Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY.
Journal article
Vanea C. et al, (2024), Nature communications, 15
Deep Facial Phenotyping with Mixup Augmentation
Conference paper
Campbell J. et al, (2024), Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), 14122 LNCS, 133 - 144
Deep learning and single-cell phenotyping for rapid antimicrobial susceptibility detection in Escherichia coli.
Journal article
Zagajewski A. et al, (2023), Communications biology, 6
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis.
Journal article
Hallowell N. et al, (2023), SSM. Qualitative research in health, 3
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis
Journal article
HALLOWELL N. et al, (2023), Social Science & Medicine Qualitative Research in Health
The genetic architecture of changes in adiposity during adulthood
Preprint
Venkatesh S. et al, (2023)
Genetic architecture of longitudinal obesity trajectories in primary care electronic health records
Conference paper
Venkatesh S. et al, (2023), EUROPEAN JOURNAL OF HUMAN GENETICS, 31, 39 - 39
"I don't think people are ready to trust these algorithms at face value": trust and the use of machine learning algorithms in the diagnosis of rare disease.
Journal article
Hallowell N. et al, (2022), BMC medical ethics, 23
Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue.
Journal article
Honecker J. et al, (2022), EBioMedicine, 79
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Journal article
Palmer EE. et al, (2021), Clinical genetics, 100, 468 - 477
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Journal article
White SM. et al, (2021), American journal of human genetics, 108, 749 - 756