Resources & publications
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2019Journal (source)BloodPediatric Evans syndrome is associated with a high frequency of potentially d...
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2019Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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Journal (source)Journal of biomedical informatics
A Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Wa...
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Journal (source)Orphanet journal of rare diseases
Next Generation Phenotyping Using Narrative Reports in a Rare Disease Clinica...
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Journal (source)Journal of biomedical informatics
Finding Patients Using Similarity Measures in a Rare Diseases-Oriented Clinic...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2017Journal (source)J Am Med Inform Assoc
Improving a full-text search engine: the importance of negation detection and...
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2021Journal (source)J Neurosurg Pediatr
Mortality and functional outcome after pediatric intracerebral hemorrhage: co...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2021Journal (source)Orphanet J Rare Dis
Improving early diagnosis of rare diseases using Natural Language Processing ...
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Journal (source)Stud Health Technol Inform
Identification of Similar Patients Through Medical Concept Embedding from Ele...
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...