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Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
Cacace R, Heeman B, Van Mossevelde S, De Roeck A, Hoogmartens J, De Rijk P, Gossye H, De Vos K, De Coster W, Strazisar M, De Baets G, Schymkowitz J, Rousseau F, Geerts N, De Pooter T, Peeters K, Sieben A, Martin JJ, Engelborghs S, Salmon E, Santens P, Vandenberghe R, Cras P, P De Deyn P, C van Swieten J, M van Duijn C, van der Zee J, Sleegers K, Van Broeckhoven C; BELNEU Consortium. Cacace R, et al. Among authors: de roeck a, de coster w, de pooter t, de baets g, de rijk p, de vos k. Acta Neuropathol. 2019 Jun;137(6):901-918. doi: 10.1007/s00401-019-01976-3. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30874922 Free PMC article.
Benchmarking of small and large variants across tandem repeats.
English A, Dolzhenko E, Jam HZ, Mckenzie S, Olson ND, De Coster W, Park J, Gu B, Wagner J, Eberle MA, Gymrek M, Chaisson MJP, Zook JM, Sedlazeck FJ. English A, et al. Among authors: de coster w. bioRxiv [Preprint]. 2023 Nov 1:2023.10.29.564632. doi: 10.1101/2023.10.29.564632. bioRxiv. 2023. Update in: Nat Biotechnol. 2024 Apr 26. doi: 10.1038/s41587-024-02225-z PMID: 37961319 Free PMC article. Updated. Preprint.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Among authors: de coster w. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):2061-2073. doi: 10.1101/gr.279273.124 PMID: 38496498 Free PMC article. Updated. Preprint.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Among authors: de deyn p, de coster w, de mendonca a. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.
NanoPack: visualizing and processing long-read sequencing data.
De Coster W, D'Hert S, Schultz DT, Cruts M, Van Broeckhoven C. De Coster W, et al. Bioinformatics. 2018 Aug 1;34(15):2666-2669. doi: 10.1093/bioinformatics/bty149. Bioinformatics. 2018. PMID: 29547981 Free PMC article.
Clinical variability and onset age modifiers in an extended Belgian GRN founder family.
Wauters E, Van Mossevelde S, Sleegers K, van der Zee J, Engelborghs S, Sieben A, Vandenberghe R, Philtjens S, Van den Broeck M, Peeters K, Cuijt I, De Coster W, Van Langenhove T, Santens P, Ivanoiu A, Cras P, De Bleecker JL, Versijpt J, Crols R, De Klippel N, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) Consortium. Wauters E, et al. Among authors: de deyn pp, de klippel n, de coster w, de bleecker jl. Neurobiol Aging. 2018 Jul;67:84-94. doi: 10.1016/j.neurobiolaging.2018.03.007. Epub 2018 Mar 10. Neurobiol Aging. 2018. PMID: 29653316 Free article.
Newest Methods for Detecting Structural Variations.
De Coster W, Van Broeckhoven C. De Coster W, et al. Trends Biotechnol. 2019 Sep;37(9):973-982. doi: 10.1016/j.tibtech.2019.02.003. Epub 2019 Mar 19. Trends Biotechnol. 2019. PMID: 30902345 Free article. Review.
NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
De Roeck A, De Coster W, Bossaerts L, Cacace R, De Pooter T, Van Dongen J, D'Hert S, De Rijk P, Strazisar M, Van Broeckhoven C, Sleegers K. De Roeck A, et al. Among authors: de coster w, de pooter t, de rijk p. Genome Biol. 2019 Nov 14;20(1):239. doi: 10.1186/s13059-019-1856-3. Genome Biol. 2019. PMID: 31727106 Free PMC article.
82 results