Author

Cristina Conati

University of British ColumbiaORCID 0000-0002-8434-9335Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:deep learning· 1 Organism:human· 1 Assay:imaging· 1 Approach:statistical model· 1

Frequent Co-Authors

Benjamin D. SolomoniD· 1 shared Dat DuongiD· 1 shared Elisabeth AndréiD· 1 shared Jiayi Cheng· 1 shared Ömer SümeriD· 1 shared Rebekah L. WaikeliD· 1 shared Suzanna E. Ledgister HanchardiD· 1 shared Tobias HuberiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Benjamin D. SolomonORCID

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1 paper

Recent·Most cited

Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes

Ömer Sümer, Tobias Huber, Jiayi Cheng, Dat Duong, Suzanna E. Ledgister Hanchard, Cristina Conati, Elisabeth André, Benjamin D. Solomon, Rebekah L. Waikel

This study evaluates if explainable AI (XAI) improves diagnostic accuracy and confidence in genetic syndrome recognition using facial images, finding mixed results with AI predictions having greater impact than XAI explanations.

Clinical Dysmorphology · Oct 8, 2026Peer-reviewedGenetic & Genomic Medicine