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Ana Rath

10PUBLICATIONS
242CO-AUTHORS
Clinical social work practiceGenomicsGenomics and transcriptomicsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Journal

Publications (10)

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|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

|Aug 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers

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Frequent Collaborators

5 joint publications

Sergi Beltran

5 joint publications

Holm Graessner

4 joint publications

Dylan Spalding

4 joint publications

Kornelia Ellwanger

4 joint publications

Steven Laurie

3 joint publications

Anthony J Brookes

3 joint publications

Peter A C 't Hoen

3 joint publications

Caterina Lucano

3 joint publications

Birte Zurek

3 joint publications

Peter Robinson

Frequent Collaborators

5 joint publications

Sergi Beltran

5 joint publications

Holm Graessner

4 joint publications

Dylan Spalding

4 joint publications

Kornelia Ellwanger

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