GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H. et al, (2024), medRxiv
Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY.
Vanea C. et al, (2024), Nat Commun, 15
Deep Facial Phenotyping with Mixup Augmentation
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Deep learning and single-cell phenotyping for rapid antimicrobial susceptibility detection in Escherichia coli.
Zagajewski A. et al, (2023), Commun Biol, 6
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis
KERASIDOU A., (2023), SSM - Qualitative Research in Health
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis
HALLOWELL N. et al, (2023), Social Science & Medicine Qualitative Research in Health
Deep Antimicrobial Susceptibility Phenotyping (DASP) Training and Evaluation Dataset, and Trained Models.
Zagajewski A. et al, (2023)
Genetic architecture of longitudinal obesity trajectories in primary care electronic health records
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
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.
Honecker J. et al, (2022), EBioMedicine, 79
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
Palmer EE. et al, (2021), Clinical Genetics
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
White SM. et al, (2021), Am J Hum Genet
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J. et al, (2021), Am J Hum Genet, 108, 346 - 356
Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits
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