Ana Rath

11PUBLICATIONS
255CO-AUTHORS
Major global burdens of diseaseClinical social work practiceGenomicsGenomics and transcriptomicsEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|Jul 08, 2026
The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.

|Jul 08, 2025
Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD).

Ferdinand Dhombres, Timothée de Saint-Denis, Dominic Thompson

|Sep 20, 2024
An interconnected data infrastructure to support large-scale rare disease research.

Lennart F Johansson, Steve Laurie, Dylan Spalding

|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.

Michael A Gargano, Nicolas Matentzoglu, Ben Coleman

|Nov 05, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

David Lagorce, Emeline Lebreton, Leslie Matalonga

|Feb 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Steven Laurie, Davide Piscia, Leslie Matalonga

Pageof 2

Frequent Collaborators

5 joint publications

Sergi Beltran

5 joint publications

Holm Graessner

4 joint publications

Caterina Lucano

4 joint publications

Dylan Spalding