Lennart F. Johansson

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 36 publications

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.

Journal: Frontiers in immunology

Published: March 13, 2026

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

Journal: NAR genomics and bioinformatics

Published: June 18, 2025

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa.

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa.

Journal: Journal of dermatological science

Published: April 01, 2025

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Journal: International journal of molecular sciences

Published: February 24, 2025

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.

Journal: NAR genomics and bioinformatics

Published: January 30, 2025

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Journal: American journal of medical genetics. Part A

Published: January 20, 2025

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Journal: Human mutation

Published: November 20, 2024

Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays.

Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays.

Journal: American journal of human genetics

Published: November 19, 2024

Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants.

Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants.

Journal: Studies in health technology and informatics

Published: August 23, 2024

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Journal: NPJ genomic medicine

Published: February 14, 2024

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Journal: International journal of neonatal screening

Published: January 22, 2024

Showing 1-12 of 36

Last Updated: 09/26/2026