Lennart Johansson
11PUBLICATIONS
92CO-AUTHORS
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Publications (11)
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|Feb 13, 2026
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.Willem T K Maassen, Charlotte C E T Pape, Carlos G Urzua-Traslavina
|Jan 05, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts
|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|Apr 17, 2025
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.Eddy N de Boer, Arjen J Scheper, Dennis Hendriksen
|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
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Frequent Collaborators
4 joint publications
Stephan Ossowski
3 joint publications
Gemma Bullich
3 joint publications
Elisa Benetti
3 joint publications
Sergi Beltran
3 joint publications
Anthony J Brookes
3 joint publications
Carla Oliveira
3 joint publications
Mallory Freeberg
3 joint publications
Kornelia Ellwanger
2 joint publications
Alexander Hoischen
2 joint publications
Steven Laurie
