PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

Overview of attention for article published in American Journal of Human Genetics, August 2018

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In the top 5% of all research outputs scored by Altmetric
High Attention Score compared to outputs of the same age (93rd percentile)
Good Attention Score compared to outputs of the same age and source (65th percentile)

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Citations

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Summary X Dimensions citations

So far, Dimensions has found 30 publications that cite this research output.

30

The most recent citing publications are shown below. View all 30 publications that cite this research output on Dimensions.

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity

Article in Orphanet Journal of Rare Diseases (February 2024)

Unravelling the Enigma of Machine Learning Model Interpretability in Enhancing Disease Prediction

Book chapter (December 2023)

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

Article in European Journal of Human Genetics (November 2023)