All Stories

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

    Article • Frontiers in Immunology, May 2026, Frontiers

    Mr Lennart Johansson

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

    Article • NAR Genomics and Bioinformatics, January 2026, Oxford University Press (OUP)

    Mr Lennart Johansson

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

    Article • Human Mutation, January 2026, Wiley

    Mr Lennart Johansson

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

    Article • Journal of Dermatological Science, August 2025, Elsevier

    Mr Lennart Johansson

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

    Article • Nature Medicine, June 2025, Springer Science + Business Media

    Mr Lennart Johansson

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

    Article • The American Journal of Human Genetics, May 2025, Elsevier

    Mr Lennart Johansson

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

    Article • NAR Genomics and Bioinformatics, March 2025, Oxford University Press (OUP)

    Mr Lennart Johansson

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

    Article • International Journal of Molecular Sciences, March 2025, MDPI AG

    Mr Lennart Johansson

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

    Article • American Journal of Medical Genetics Part A, March 2025, Wiley

    Mr Lennart Johansson

  10. Professional perspectives towards implementing artificial intelligence in next generation sequencing–based newborn screening: A Q methodology study

    Article • Health Policy and Technology, March 2025, Elsevier

    Mr Lennart Johansson

  11. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Article • Nature Medicine, January 2025, Springer Science + Business Media

    Mr Lennart Johansson

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

    Article • npj Genomic Medicine, October 2024, Springer Science + Business Media

    Mr Lennart Johansson

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

    Article • August 2024, openRxiv

    Mr Lennart Johansson

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

    Article • August 2024, IOS Press

    Mr Lennart Johansson

  15. Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

    Article • Scientific Reports, April 2024, Springer Science + Business Media

    Mr Lennart Johansson

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

    Article • International Journal of Neonatal Screening, March 2024, MDPI AG

    Mr Lennart Johansson

  17. An interconnected data infrastructure to support large-scale rare disease research

    Article • GigaScience, January 2024, Oxford University Press (OUP)

    Mr Lennart Johansson

  18. Ten quick tips for building FAIR workflows

    Article • PLoS Computational Biology, September 2023, PLOS

    Mr Lennart Johansson

  19. Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

    Article • Frontiers in Immunology, September 2023, Frontiers

    Mr Lennart Johansson

  20. Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates

    Article • Frontiers in Genetics, January 2022, Frontiers

    Mr Lennart Johansson

  21. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

    Article • European Journal of Human Genetics, August 2021, Springer Science + Business Media

    Mr Lennart Johansson, EVA BERMEJO-SANCHEZ

  22. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Article • European Journal of Human Genetics, June 2021, Springer Science + Business Media

    Mr Lennart Johansson, EVA BERMEJO-SANCHEZ

  23. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

    Article • International Journal of Cardiology, June 2021, Elsevier

    Mr Lennart Johansson

  24. Solving unsolved rare neurological diseases—a Solve-RD viewpoint

    Article • European Journal of Human Genetics, May 2021, Springer Science + Business Media

    Mr Lennart Johansson, EVA BERMEJO-SANCHEZ

  25. Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC

    Article • Targeted Oncology, February 2021, Springer Science + Business Media

    Mr Lennart Johansson

  26. Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies–RANKING

    Article • Clinical Chemistry, December 2020, Oxford University Press (OUP)

    Mr Lennart Johansson

  27. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

    Article • F1000Research, October 2020, Faculty of 1000, Ltd.

    Krzysztof Poterlowicz, Dr John M Hancock, Mr Lennart Johansson

  28. Abstract 4335: Clinical value of EGFR gene amplifications detected using amplicon based targeted next generation sequencing data in lung adenocarcinoma patients

    Article • Cancer Research, August 2020, American Association for Cancer Research (AACR)

    Mr Lennart Johansson

  29. Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing

    Article • Clinical Chemistry, July 2020, Oxford University Press (OUP)

    Mr Lennart Johansson

  30. Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

    Article • BMC Medical Genomics, November 2019, Springer Science + Business Media

    Mr Lennart Johansson

  31. Gender-Specific Differences At Both Extreme Ends Of The Ldl Cholesterol Distribution Curve

    Article • Atherosclerosis, August 2019, Elsevier

    Mr Lennart Johansson

  32. What Is The Origin Of Severe Hypercholesterolemia In A Large Cohort Of Emiratis With A High Prevalance Of Type 2 Diabetes

    Article • Atherosclerosis, August 2019, Elsevier

    Mr Lennart Johansson

  33. A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA

    Article • Gene Therapy, July 2019, Springer Science + Business Media

    Mr Lennart Johansson

  34. NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

    Article • BMC Bioinformatics, December 2018, Springer Science + Business Media

    Mr Lennart Johansson

  35. Genetic test for acute leukemias

    Article • Clinical Chemistry, May 2018, AACC

    Mr Lennart Johansson

  36. Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing

    Article • Scientific Reports, May 2017, Nature

    Mr Lennart Johansson

  37. NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

    Article • Scientific Reports, December 2016, Nature

    Mr Lennart Johansson

  38. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

    Article • Human Mutation, February 2016, Wiley

    Mr Lennart Johansson

  39. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

    Article • BMC Medical Genomics, December 2015, Springer Science + Business Media

    Mr Lennart Johansson

  40. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

    Article • European Journal of Human Genetics, September 2015, Nature

    Mr Lennart Johansson, Dr ir Wilfred van IJcken

  41. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

    Article • European Journal of Human Genetics, January 2015, Nature

    Mr Lennart Johansson, Dr ir Wilfred van IJcken

  42. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

    Article • Human Mutation, April 2013, Wiley

    Mr Lennart Johansson

  43. Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing

    Article • Clinical Chemistry, January 2013, AACC

    Mr Lennart Johansson

  44. Looking through the noise: novel algorithms for genetic variant detection

    Article • University Library Groningen

    Mr Lennart Johansson