| Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics B Sikkema‐Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ... Human mutation 34 (7), 1035-1042, 2013 | 387 | 2013 |
| Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly P Rump, O Jazayeri, KK van Dijk-Bos, LF Johansson, AJ van Essen, ... BMC medical genomics 9, 1-9, 2015 | 103 | 2015 |
| Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects T Vrijenhoek, K Kraaijeveld, M Elferink, J De Ligt, E Kranendonk, ... European Journal of Human Genetics 23 (9), 1142-1150, 2015 | 99 | 2015 |
| CoNVaDING: single exon variation detection in targeted NGS data LF Johansson, F van Dijk, EN de Boer, KK van Dijk‐Bos, JDH Jongbloed, ... Human mutation 37 (5), 457-464, 2016 | 96 | 2016 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists J El Mecky, L Johansson, M Plantinga, A Fenwick, A Lucassen, ... BMC medical genomics 12, 1-9, 2019 | 39 | 2019 |
| A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA EN de Boer, PE van der Wouden, LF Johansson, CC van Diemen, ... Gene Therapy 26 (7), 338-346, 2019 | 39 | 2019 |
| Novel algorithms for improved sensitivity in non-invasive prenatal testing LF Johansson, EN De Boer, HA De Weerd, F Van Dijk, MG Elferink, ... Scientific Reports 7 (1), 1838, 2017 | 20 | 2017 |
| Successful noninvasive trisomy 18 detection using single molecule sequencing JME van den Oever, S Balkassmi, LF Johansson, ... Clinical chemistry 59 (4), 705-709, 2013 | 17 | 2013 |
| NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results B Sikkema-Raddatz, LF Johansson, EN De Boer, EMJ Boon, ... Scientific reports 6 (1), 38359, 2016 | 14 | 2016 |
| Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC J Wei, P Meng, MM Terpstra, A van Rijk, M Tamminga, F Scherpen, ... Targeted oncology 16, 215-226, 2021 | 11 | 2021 |
| Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients MZ Alimohamed, LF Johansson, A Posafalvi, LG Boven, KK van Dijk, ... International Journal of Cardiology 332, 99-104, 2021 | 10 | 2021 |
| NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing LF Johansson, HA de Weerd, EN de Boer, F van Dijk, GJ Te Meerman, ... BMC bioinformatics 19, 1-5, 2018 | 9 | 2018 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 6 | 2023 |
| Solving unsolved rare neurological diseases—a Solve-RD viewpoint R Schüle, D Timmann, CE Erasmus, J Reichbauer, M Wayand, ... European Journal of Human Genetics 29 (9), 1332-1336, 2021 | 6 | 2021 |
| Detection of fusion genes to determine minimal residual disease in leukemia using next-generation sequencing EN de Boer, LF Johansson, K de Lange, AG Bosga-Brouwer, ... Clinical chemistry 66 (8), 1084-1092, 2020 | 6 | 2020 |
| Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies–RANKING K de Lange, EN de Boer, A Bosga, MZ Alimohamed, LF Johansson, ... Clinical Chemistry 66 (12), 1521-1530, 2020 | 5 | 2020 |
| Genetic screening test to detect translocations in acute leukemias by use of targeted locus amplification MZ Alimohamed, LF Johansson, EN de Boer, E Splinter, P Klous, ... Clinical Chemistry 64 (7), 1096-1103, 2018 | 5 | 2018 |
| Ten quick tips for building FAIR workflows C de Visser, LF Johansson, P Kulkarni, H Mei, P Neerincx, ... PLoS Computational Biology 19 (9), e1011369, 2023 | 4 | 2023 |
| Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching W Maassen, G Legger, O Kul Cinar, P van Daele, M Gattorno, ... Frontiers in Immunology 14, 1215869, 2023 | 4 | 2023 |
