Skip to Main Content

Paper Details

Phenotype-aware prioritisation of rare Mendelian disease variants.
Trends Genet
10
2022
Mendelian disease, Mendelian diseases, genetic, patient, patients, retinal disease, whole-exome
Author NameAffiliation
Nikolas PontikosUCL Institute of Ophthalmology, University College London
Gavin ArnoUCL Institute of Ophthalmology, University College London
Peter N Robinson
Peter N Robinson
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London
Valentina CiprianiWilliam Harvey Research Institute, Queen Mary University of London, UK UCL Institute of Ophthalmology, University College London, UK Moorfields Eye Hospital NHS Foundation Trust, UK UCL Genetics Institute
  • 1 - 6

Datasets

Release 1.2