Bert B. A. de Vries

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Caleb Webber, Chris P. Ponting, Christian Gilissen, 2010, PLoS Comput. Biol..

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..