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HmtVar: a new resource for human mitochondrial variations and pathogenicity data. Preste Roberto et al. Nucleic acids research 2018 Oct Similar articles in PubMed
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7 Similar articles in PubMed
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases. Fujiwara Toyofumi et al. American journal of human genetics 2018 Aug Similar articles in PubMed
Accurate Filtering of Privacy-Sensitive Information in Raw Genomic Data. Decouchant Jérémie et al. Journal of biomedical informatics 2018 Apr Similar articles in PubMed
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Gainotti Sabina et al. European journal of human genetics : EJHG 2018 Feb Similar articles in PubMed
GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases. Koile Daniel et al. BMC bioinformatics 2018 Jan 19(1) 25 Similar articles in PubMed
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Sernadela Pedro et al. BioMed research international 2017 20178327980 Similar articles in PubMed
eRAM: encyclopedia of rare disease annotations for precision medicine. Jia Jinmeng et al. Nucleic acids research 2017 Nov Similar articles in PubMed
ApreciseKUre: an approach of Precision Medicine in a Rare Disease. Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42 Similar articles in PubMed
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. Pavan Sonia et al. PloS one 2017 12(1) e0170365 Similar articles in PubMed
A comprehensive global genotype–phenotype database for rare diseases R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 2016
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Lochmüller Hanns et al. European journal of human genetics : EJHG 2016 Oct Similar articles in PubMed
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Buske Orion J et al. Hum. Mutat. 2015 Oct 36(10) 931-40 Similar articles in PubMed
GeneVetter: a web tool for quantitative monogenic assessment of rare diseases. Gillies Christopher E et al. Bioinformatics 2015 Jul 23. Similar articles in PubMed
eHealth Services for the European Reference Network on Rare Anaemias (eENERCA). Antoniou Zinonas et al. Stud Health Technol Inform 2015 213153-6 Similar articles in PubMed
GeneYenta: A Phenotype-Based Rare Disease Case Matching Tool Based on Online Dating Algorithms For the Acceleration of Exome Interpretation. Similar articles in PubMed
National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences. Similar articles in PubMed
Phen-Gen: combining phenotype and genotype to analyze rare disorders. Similar articles in PubMed
Assessing disease risk in genome-wide association studies using family history. Similar articles in PubMed