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BMC Bioinformatics|July 23, 2014
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontologyAaron J Masino, Elizabeth T Dechene, Matthew C Dulik, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndromePeter M Krawitz, Daniela Schiska, Ulrike Krüger, et al.
Bioinformatics (Oxford, England)|September 29, 2025
Oncopacket: integration of cancer research data using GA4GH phenopacketsMichael Sierk, Daniel Danis, Sujay Patil, et al.
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 22, 2015
Modeling anxiety in Parkinson's diseaseMartijn P G Broen, Sebastian Köhler, Anja J H Moonen, et al.
Neurology|September 3, 2013
Progression to dementia in memory clinic patients without dementia: a latent profile analysisSebastian Köhler, Renske Hamel, Nicole Sistermans, et al.
Neurology|December 16, 2016
Dementia risk in renal dysfunction: A systematic review and meta-analysis of prospective studiesKay Deckers, Ileana Camerino, Martin P J van Boxtel, et al.
HGG Advances|December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.
Scientific Data|August 22, 2024
An ontology-based knowledge graph for representing interactions involving RNA moleculesEmanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, et al.
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