Gemma Bullich
4PUBLICATIONS
88CO-AUTHORS
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Publications (4)
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|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|Oct 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.German Demidov, Burcu Yaldiz, José Garcia-Pelaez
|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
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Frequent Collaborators
3 joint publications
Elisa Benetti
3 joint publications
Sergi Beltran
3 joint publications
Carla Oliveira
3 joint publications
Hanns Lochmüller
3 joint publications
Stephan Ossowski
3 joint publications
Lennart Johansson
3 joint publications
Estrella López-Martín
3 joint publications
Rita Horvath
2 joint publications
Steven Laurie
2 joint publications
Kiran Polavarapu
