| 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 | 426 | 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), 7, 2015 | 119 | 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 | 113 | 2015 |
| 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 | 111 | 2021 |
| 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 | 109 | 2016 |
| Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1337-1347, 2021 | 76 | 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), 170, 2019 | 53 | 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 | 51 | 2019 |
| Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses S Laurie, W Steyaert, E De Boer, K Polavarapu, N Schuermans, ... Nature Medicine 31 (2), 478-489, 2025 | 31 | 2025 |
| 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 | 30 | 2023 |
| Comparing diagnostic delay in cancer: a cross-sectional study in three European countries with primary care-led health care systems P Murchie, NC Campbell, EK Delaney, GJ Dinant, PC Hannaford, ... Family Practice 29 (1), 69-78, 2012 | 27 | 2012 |
| 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 | 22 | 2017 |
| 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 | 18 | 2021 |
| 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 (2), 215, 2021 | 18 | 2021 |
| 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 |
| 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 | 16 | 2021 |
| 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 |
| 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 | 13 | 2023 |
| 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 | 13 | 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 | 12 | 2020 |
