Publications

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hsieh T-C. et al, (2024)

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

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.

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

The genetic architecture of changes in adiposity during adulthood

Venkatesh SS. et al, (2023)

Deep Antimicrobial Susceptibility Phenotyping (DASP) Training and Evaluation Dataset, and Trained Models.

Zagajewski A. et al, (2023)

“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

Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue

Honecker J. et al, (2021)

The case for open science: rare diseases.

Rubinstein YR. et al, (2020), JAMIA Open, 3, 472 - 486

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

Glastonbury CA. et al, (2020), PLOS Computational Biology, 16, e1008044 - e1008044

A call for global action for rare diseases in Africa.

Baynam GS. et al, (2020), Nature genetics, 52, 21 - 26

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Nellåker C. et al, (2019), Frontiers in Genetics, 10

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B. et al, (2019), Am J Hum Genet, 104, 530 - 541

Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol

Kennedy SH. et al, (2019), Gates Open Research, 2, 49 - 49

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Publications