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In the lab

Contact information

Email
jing.yu@ndcn.ox.ac.uk

Research groups

Inherited Retinal Degeneration and Gene Identification

Jing Yu

Recent publications

Phenogenon: Gene to phenotype associations for rare genetic diseases.
Journal article

Pontikos N. et al, (2020), PLoS One, 15
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Journal article

Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423
Pheno4J: a gene to phenotype graph database
Journal article

Mughal S. et al, (2017)
The Human Phenotype Ontology in 2017
Journal article

Köhler S. et al, (2017), Nucleic Acids Research, 45, D865 - D876
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

More publications