P. Robinson

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Julius O. B. Jacobsen, D. Smedley, C. Mungall, 2022, Genome medicine.

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

D. Smedley, F. Dhombres, M. Haendel, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

R. Krause, I. Helbig, R. Thomas, 2021, Epilepsia.

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

C. Mungall, M. Haendel, S. Toro, 2023, medRxiv.

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

M. Hanauer, A. Rath, D. Lagorce, 2023, European journal of human genetics : EJHG.