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1.	Breckpot, J, et al. (author) Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate 2016 In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 24:1, s. 51-58 Journal article (peer-reviewed)
2.	Maas, NMC, et al. (author) Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) 2008 In: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:2, s. 71-80 Journal article (peer-reviewed)
3.	Sauk, M, et al. (author) NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies 2018 In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1, s. 5616- Journal article (peer-reviewed)abstract Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool – NIPTmer – is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts. Additionally, the filtering process used for k-mer list creation allows one to take into account the genetic variance in a specific sample, thus reducing the source of uncertainty. The processing time of one sample is less than 10 CPU-minutes on a high-end workstation. NIPTmer was validated on a cohort of 583 NIPT samples and it correctly predicted 37 non-mosaic fetal aneuploidies. NIPTmer has the potential to reduce significantly the time and complexity of NIPT post-sequencing analysis compared to mapping-based methods. For non-commercial users the software package is freely available at http://bioinfo.ut.ee/NIPTMer/.
4.	Stanley, KE, et al. (author) Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology 2024 In: Nature communications. - 2041-1723. ; 15:1, s. 2220- Journal article (peer-reviewed)
5.	Tguiko, O, et al. (author) A speculative outlook on embryonic aneuploidy: Can molecular pathways be involved? 2019 In: Developmental biology. - : Elsevier BV. - 1095-564X .- 0012-1606. ; 447:1, s. 3-13 Journal article (peer-reviewed)
6.	Vermeesch, JR, et al. (author) Guidelines for molecular karyotyping in constitutional genetic diagnosis 2007 In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:11, s. 1105-1114 Journal article (peer-reviewed)
7.	Zilina, O, et al. (author) Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting 2019 In: Prenatal diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 39:13, s. 1262-1268 Journal article (peer-reviewed)

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Type of publication: journal article (7)

Type of content: peer-reviewed (7)

Author/Editor: Vermeesch, JR (7); Salumets, A (3); Devriendt, K (3); Kurg, A (3); Krjutskov, K (2); Schoumans, J (2); show more...; Anderlid, BM (2); Firth, H (2); Palta, P. (2); Sanlaville, D. (2); Thienpont, B (2); Teder, H (2); Sauk, M (2); Altmae, S (1); Szuhai, K (1); Peters, M (1); Van Calsteren, K (1); Speleman, F (1); Lanner, F (1); Rauch, A (1); Clayton-Smith, J (1); Kok, K (1); Hordijk, R (1); Breckpot, J. (1); Zuffardi, O (1); Ciccone, R (1); Alanay, Y (1); Blyth, M (1); Brahimi, A (1); Duban-Bedu, B (1); Goze, O (1); Yakicier, MC (1); Hens, G (1); Rayyan, M (1); Legius, E (1); Punie, K. (1); Andrieux, J (1); Vandenberghe, P (1); Fiegler, H (1); Grace, LKP (1); Lenaerts, L (1); de Leeuw, N (1); Tejpar, S (1); Patsalis, PC (1); Roost, AM (1); Tonisson, N (1); Maas, NMC (1); Van Buggenhout, G (1); Hannes, F (1); Midro, A (1); show less...

University: Karolinska Institutet (7)

Language: English (7)

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