Lennart Johansson

11PUBLICATIONS
92CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Forensic epidemiologyCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Genomics
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Publications (11)

|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

|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

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

Lennart F Johansson, Steve Laurie, Dylan Spalding

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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