In the lab
Contact information
Research groups
Jing Yu
Recent publications
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Phenogenon: Gene to phenotype associations for rare genetic diseases.
Journal article
Pontikos N. et al, (2020), PLoS One, 15
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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Journal article
Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423
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Pheno4J: A Gene To Phenotype Graph Database
Journal article
Mughal S. et al, (2017)
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The Human Phenotype Ontology in 2017
Journal article
Köhler S. et al, (2017), Nucleic Acids Research, 45, D865 - D876
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
Journal article
Sleven H. et al, (2017), The American Journal of Human Genetics, 100, 138 - 150