Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Solve-RD DITF-GENTURIS, Solve-RD-DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD-DITF-RND, Solve-RD consortium, Laurie, S., Steyaert, W., de Boer, E., Polavarapu, K., Schuermans, N., Sommer, A. K., Demidov, G., Ellwanger, K., Paramonov, I., Thomas, C., Aretz, S., Baets, J., Benetti, E., Bullich, G. & Chinnery, P. F. & 37 others, , Feb-2025, In: Nature Medicine. 31, p. 478–489 34 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)11 Downloads (Pure) -
Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa
de Boer, E. N., Grutters, L. A., Baardman, R., Schoonhoven, D., Bremer, J., Venema, R. R., Boorsma, F., de Boer-Bergsma, J. J., Diercks, G. F. H., Lemmink, H. H., Commandeur-Jan, S. Z., Dijkstra, D. J., Johansson, L. F., Bolling, M. C., van Diemen, C. C. & van den Akker, P. C., 5-May-2025, (E-pub ahead of print) In: Journal of dermatological science. 4 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
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Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays
Lifelines NEXT cohort study, Lanting, P., Warmerdam, R., Slager, J., Brugge, H., Ochi, T., Benjamins, M., Lopera-Maya, E., Jankipersadsing, S., Gelderloos-Arends, J., Teuben, D., Hendriksen, D., Charbon, B., Johansson, L., Munnink, T. O., de Boer-Veger, N., Wilffert, B., Swertz, M., Touw, D. & Deelen, P. & 3 others, , 1-Apr-2025, (E-pub ahead of print) In: American Journal of Human Genetics.Research output: Contribution to journal › Article › Academic › peer-review
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Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders
de Boer, E. N., Scheper, A. J., Hendriksen, D., Charbon, B., van der Vries, G., ten Berge, A. M., Grootscholten, P. M., Lemmink, H. H., Jongbloed, J. D. H., Bosscher, L., Knoers, N. V. A. M., Swertz, M. A., Sikkema-Raddatz, B., Dijkstra, D. J., Johansson, L. F. & van Diemen, C. C., 21-Mar-2025, In: International Journal of Molecular Sciences. 26, 7, 15 p., 2850.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Downloads (Pure) -
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views
Rraku, E., Engwerda, A., Medina, T. D., Swertz, M. A., Johansson, L. F., van Ravenswaaij-Arts, C. M. A. & Christiaans, I., 13-Mar-2025, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A. 9 p., e64038.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure)
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European Sociiety of Human Genetics (ESHG) conference 2021
Johansson, L. (Attendee)
28-Aug-2021 → 31-Aug-2021Activity: Organising and attending an event › Attending an event › Academic
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BioSB 2020
Johansson, L. (Speaker), Vries, van der, G. (Contributor), Neerincx, P. (Contributor), Andrade, de, F. (Contributor), Roelofs-Prins, D. (Contributor), Kanninga, R. (Contributor), Bijlsma, M. (Contributor), Velde, van der, J. (Contributor), Hendriksen, D. (Contributor), Rijpkema, E. (Contributor), Nap, W. (Contributor), Zilverberg, H.-J. (Contributor), Dijkstra, F. (Contributor), Uitterdijk, J. J. (Contributor), Geijn, van de, G.-J. (Contributor), Laurie, S. (Contributor), Piscia, D. (Contributor), Kerry, G. (Contributor), Mohan, A. (Contributor), Spalding, D. (Contributor), Beltran, S. (Contributor), Brookes, A. (Contributor) & Swertz, M. (Contributor)
27-Oct-2020 → 28-Oct-2020Activity: Talk and presentation › Academic presentation › Academic
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7th International Cardiovascular Genomic Medicine Conference
Vos, Y. (Speaker), Alimohamed, M. (Speaker), Johansson, L. (Speaker), Westers, H. (Speaker), Sinke, R. (Speaker), Sijmons, R. (Speaker), Sikkema-Raddatz, B. (Speaker), Jongbloed, J. (Speaker) & Zwaag, van der, P. (Speaker)
4-Dec-2019 → 5-Dec-2019Activity: Talk and presentation › Professional or public presentation › Professional
Datasets
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Additional file 4: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd ,de, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-Dec-2018
DOI: 10.6084/m9.figshare.7479074.v1
Dataset
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Additional file 3: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-Dec-2018
DOI: 10.6084/m9.figshare.7479071.v1
Dataset
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Additional file 5: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Johansson, L. (Contributor), Weerd, H. (Contributor), de Boer, E. (Contributor), van Dijk, F. (Contributor), te Meerman, G. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor) & Swertz, M. (Contributor), University of Groningen, 17-Dec-2018
DOI: 10.6084/m9.figshare.7479080.v1
Dataset