Výsledky vyhledávání - "Hoen, P.A.C. 't"

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

Autor: Salz, R.L., Saraiva-Agostinho, N., Vorsteveld, E.E., Made, C.I. van der, Kersten, S., Stemerdink, M., Allen, J., Volders, P.J., Hunt, S.E., Hoischen, A., Hoen, P.A.C. 't

Publikováno v: BMC Genomics, 24
BMC Genomics, 24, 1

Contains fulltext : 293628.pdf (Publisher’s version ) (Open Access) Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed under certain conditi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8159a7fab3974b7d56a497fa3ba195c7
http://hdl.handle.net/2066/293628

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A characterization of cis- and trans-heritability of RNA-Seq-based gene expression

Autor: Ouwens, K.G., Jansen, R., Nivard, M.G., Dongen, J. van, Frieser, M.J., Hottenga, J.J., Arindrarto, W., Claringbould, A., Iterson, M. van, Mei, H.L., Franke, L., Heijmans, B.T., Hoen, P.A.C. 't, Meurs, J. van, Brooks, A.I., Penninx, B.W.J.H., Boomsma, D.I., Isaacs, A., Pool, R., Greevenbroek, M.M.J. van, Stehouwer, C.D.A., Kallen, C.J.H. van der, Schalkwijk, C.G., Wijmenga, C., Zhernakova, S., Tigchelaar, E.F., Slagboom, P.E., Beekman, M., Deelen, J., Heemst, D. van, Veldink, J.H., Berg, L.H. van den, Duijn, C.M. van, Hofman, B.A., Uitterlinden, A.G., Jhamai, P.M., Verbiest, M., Suchiman, H.E.D., Verkerk, M., Breggen, R. van der, Rooij, J. van, Lakenberg, N., Galen, M. van, Bot, J., Zhernakova, D.V., van't Hof, P., Deelen, P., Nooren, I., Moed, M., Vermaat, M., Luijk, R., Bonder, M.J., Dijk, F. van, Kielbasa, S.M., Swertz, M.A., Zwet, E.W. van, Hoen, P.B. 't, BIOS Consortium

Publikováno v: Ouwens, K G, Jansen, R, Nivard, M G, van Dongen, J, Frieser, M J, Hottenga, J-J, Arindrarto, W, Claringbould, A, van Iterson, M, Mei, H, Franke, L, Heijmans, B T, A. C. ’t Hoen, P, van Meurs, J, Brooks, A I, Boomsma, D I, Penninx, B W J H & BIOS Consortium 2020, ' A characterization of cis-and trans-heritability of RNA-Seq-based gene expression ', European Journal of Human Genetics, vol. 28, no. 2, pp. 253-263 . https://doi.org/10.1038/s41431-019-0511-5
European Journal of Human Genetics, 28(2), 253-263. Nature Publishing Group
Ouwens, K G, Jansen, R, Nivard, M G, van Dongen, J, Hottenga, J-J, Penninx, B W J H, Boomsma, D I & BIOS Consortium 2020, ' A characterization of cis-and trans-heritability of RNA-Seq-based gene expression ', European Journal of Human Genetics, vol. 28, no. 2, pp. 253-263 . https://doi.org/10.1038/s41431-019-0511-5
European Journal of Human Genetics, 28, 253-263
Eur J Hum Genet
European Journal of Human Genetics, 28, 2, pp. 253-263
European Journal of Human Genetics, 28(2), 253-263. NATURE PUBLISHING GROUP

Insights into individual differences in gene expression and its heritability (h2) can help in understanding pathways from DNA to phenotype. We estimated the heritability of gene expression of 52,844 genes measured in whole blood in the largest twin R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b724edc5b8ecf280bc310da19b2529ee
https://research.vumc.nl/en/publications/029df33c-d648-47cb-b258-60c60eed93d1

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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Autor: Spitali, P., Zaharieva, I., Bohringer, S., Hiller, M., Chaouch, A., Roos, A., Scotton, C., Claustres, M., Bello, L., McDonald, C.M., Hoffman, E.P., Koeks, Z., Suchiman, H.E., Cirak, S., Scoto, M., Reza, M., Hoen, P.A.C. t, Niks, E.H., Tuffery-Giraud, S., Lochmuller, H., Ferlini, A., Muntoni, F., Aartsma-Rus, A., Dubrovsky, A., Kornberg, A., North, K., Ryan, M., Webster, R., Biggar, W.D., McAdam, L.C., Mah, J.K., Kolski, H., Vishwanathan, V., Chidambaranathan, S., Nevo, Y., Gorni, K., Carlo, J., Tulinius, M., Lotze, T., Bertorini, T.E., Day, J.W., Karachunski, P., Clemens, P.R., Abdel-Hamid, H., Teasley, J., Kuntz, N., Driscoll, S., Bodensteiner, J.B., Connolly, A.M., Pestronk, A., Abresch, R.T., Henricson, E.K., Joyce, N.C., Cnaan, A., Gordish-Dressmsn, H., Morgenroth, L.P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Duong, T., CINRG Investigators

Publikováno v: European Journal of Human Genetics, 28, 815-825. NATURE PUBLISHING GROUP
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-019-0563-6⟩

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe979cb85c6d5db309b9c8e591ea6b64
http://hdl.handle.net/1887/3181575

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Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA)

Autor: Dos Santos Vieira, B., Groenen, K., Hoen, P.A.C. 't, Jacobsen, A., Roos, M., Kaliyaperumal, R., Kersloot, M., Cornet, R., Schultze Kool, L.J.

Publikováno v: Studies in Health Technology and Informatics, 271, 115-116
Studies in health technology and informatics, 271, 115-116. IOS Press
Studies in Health Technology and Informatics, 271, pp. 115-116

Contains fulltext : 220774.pdf (Publisher’s version ) (Open Access) BACKGROUND: Connecting currently existing, heterogeneous rare disease (RD) registries would greatly facilitate epidemiological and clinical research. To increase their interoperabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::720c97c85aed492da23497e92a05ca82
http://hdl.handle.net/2066/220774

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RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting

Autor: Jadhav, B., Monajemi, R., Gagalova, K.K., Ho, D., Draisma, H.H.M., Wiel, M.A. van de, Franke, L., Heijmans, B.T., Meurs, J. van, Jansen, R., Hoen, P.A.C. t, Sharp, A.J., Kielbasa, S.M., GoNL Consortium, BIOS Consortium

Publikováno v: BMC Biology, 17
BMC Biology, 17(1):50. BioMed Central Ltd.
Biology, 17(1). Multidisciplinary Digital Publishing Institute (MDPI)
BMC Biology, Vol 17, Iss 1, Pp 1-20 (2019)
Jadhav, B, Monajemi, R, Gagalova, K K, Ho, D, Draisma, H H M, van de Wiel, M A, Franke, L, Heijmans, B T, van Meurs, J, Jansen, R, 't Hoen, P A C, Sharp, A J, Kiełbasa, S M & GoNL Consortium 2019, ' RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting ', Biology, vol. 17, no. 1, pp. 50 . https://doi.org/10.1186/s12915-019-0674-0
BMC Biology, 17:50. BioMed Central Ltd.
BMC Biology

Background Identification of imprinted genes, demonstrating a consistent preference towards the paternal or maternal allelic expression, is important for the understanding of gene expression regulation during embryonic development and of the molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855433ddf4bfa26555b865b030ca9d4f
http://hdl.handle.net/1887/120413

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Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells

Autor: Driedonks, T.A.P., Grein, S.G. van der, Ariyurek, Y., Buermans, H.P.J., Jekel, H., Chow, F.W.N., Wauben, M.H.M., Buck, A.H., Hoen, P.A.C. 't, Nolte-'t Hoen, E.N.M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______202::5a04250b6b8a28f8bc8f18f59f4a524e
https://hdl.handle.net/1887/86480

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Whole Transcriptome Sequencing (RNAseq) As a Comprehensive, Cost-Efficient Diagnostic Tool for Acute Myeloid Leukemia

Autor: Griffioen, M., Arindrarto, W., Borras, D., Diessen, S.A.M.E. van, Meijden, E.D. van der, Honders, M.W., Alloul, M., Jedema, I., Kroes, W.G.M., Valk, P.J.M., Janssen, B., Bergen, C.A.M. van, Kielbasa, S.M., Laros, J.F.J., Hoen, P.A.C. 't, Veelken, H.

Publikováno v: Blood, 128(22)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a84f3902208ff074271452d46725b950
https://hdl.handle.net/1887/3566489

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Blood lipids influence DNA methylation in circulating cells

Publikováno v: Genome Biol
Genome Biology, 17(138), 1-12. Springer Verlag
Genome Biology, 17. BioMed Central
Genome Biology
Dekkers, K F, van Iterson, M, Slieker, R C, Moed, M H, Bonder, M J, van Galen, M, Mei, H, Zhernakova, D V, Van den Berg, L H, Deelen, J, van Dongen, J, van Heemst, D, Hofman, A, Hottenga, J J, van der Kallen, C J H, Schalkwijk, C G, Stehouwer, C D A, Tigchelaar, E F, Uitterlinden, A G, Willemsen, G, Zhernakova, A, Franke, L, 't Hoen, P A C, Jansen, R, van Meurs, J, Boomsma, D I, van Duijn, C M, van Greevenbroek, M M J, Veldink, J H, Wijmenga, C, van Zwet, E W, Slagboom, P E, Jukema, J W & Heijmans, B T 2016, ' Blood lipids influence DNA methylation in circulating cells ', Genome Biology, vol. 17, no. 138, pp. 1-12 . https://doi.org/10.1186/s13059-016-1000-6
Genome Biology (Online), 17:135. BioMed Central Ltd
Genome Biology, 17:138
Genome Biology, 17
Dekkers, K F, van Iterson, M, Slieker, R C, Moed, M H, Bonder, M J, van Galen, M, Mei, H, Zhernakova, D V, van den Berg, L H, Deelen, J, van Dongen, J, van Heemst, D, Hofman, A, Hottenga, J J, van der Kallen, C J H, Schalkwijk, C G, Stehouwer, C D A, Tigchelaar, E F, Uitterlinden, A G, Willemsen, G, Zhernakova, A, Franke, L, 't Hoen, P A C, Jansen, R, van Meurs, J, Boomsma, D I, van Duijn, C M, van Greevenbroek, M M J, Veldink, J H, Wijmenga, C, van Zwet, E W, Slagboom, P E, Jukema, J W & Heijmans, B T 2016, ' Blood lipids influence DNA methylation in circulating cells ', Genome Biology, vol. 17 . https://doi.org/10.1186/s13059-016-1000-6
Genome Biology, 17:138. BMC
Genome Biology, 17. BioMed Central Ltd.

Background Cells can be primed by external stimuli to obtain a long-term epigenetic memory. We hypothesize that long-term exposure to elevated blood lipids can prime circulating immune cells through changes in DNA methylation, a process that may cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b356b0d6fc72b2c4c593b8c0af0d37ba
https://hdl.handle.net/21.11116/0000-000B-7170-7

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Consistency of biological networks inferred from microarray and sequencing data

Autor: Vinciotti, V., Wit, E.C., Jansen, R., Geus, E.J.C.N. de, Penninx, B.W.J.H., Boomsma, D.I., Hoen, P.A.C. 't

Publikováno v: BMC Bioinformatics, 17(254), 1-10. BioMed Central
Vinciotti, V, Wit, E C, Jansen, R, de Geus, E J C, Penninx, B W J H, Boomsma, D I & 't Hoen, P A C 2016, ' Consistency of biological networks inferred from microarray and sequencing data ', BMC Bioinformatics, vol. 17, no. 254, pp. 1-10 . https://doi.org/10.1186/s12859-016-1136-0
BMC Bioinformatics, 17

Background: Sparse Gaussian graphical models are popular for inferring biological networks, such as gene regulatory networks. In this paper, we investigate the consistency of these models across different data platforms, such as microarray and next g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ab5386bce6215693de97ad88f5f7d442
https://research.vu.nl/en/publications/fd1eae83-bfff-4f0b-8464-e4f79c073729

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Publikováno v: Genome Biology, 17. BioMed Central Ltd.
Genome Biology, 17:191
Genome Biology, 17
Genome Biology, 17. BioMed Central
Slieker, R C, van Iterson, M, Luijk, R, Beekman, M, Zhernakova, D V, Moed, M H, Mei, H, van Galen, M, Deelen, P, Bonder, M J, Zhernakova, A, Uitterlinden, A G, Tigchelaar, E F, Stehouwer, C D A, Schalkwijk, C G, van der Kallen, C J H, Hofman, A, van Heemst, D, de Geus, E J C, van Dongen, J, Deelen, J, Van den Berg, L H, van Meurs, J, Jansen, R, 't Hoen, P A C, Franke, L, Wijmenga, C, Veldink, J H, Swertz, M A, van Greevenbroek, M M J, van Duijn, C M, Boomsma, D I, Slagboom, P E & Heijmans, B T 2016, ' Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms ', Genome Biology, vol. 17, no. 191, pp. 1-13 . https://doi.org/10.1186/s13059-016-1053-6
Genome Biology
Genome Biology, 17:191. BMC
Genome Biol
Genome Biology (Online), 17:191. BioMed Central Ltd
Genome Biology, 17(191), 1-13. Springer Verlag
Slieker, R C, van Iterson, M, Luijk, R, Beekman, M, Zhernakova, D V, Moed, M H, Mei, H, van Galen, M, Deelen, P, Bonder, M J, Zhernakova, A, Uitterlinden, A G, Tigchelaar, E F, Stehouwer, C D A, Schalkwijk, C G, van der Kallen, C J H, Hofman, A, van Heemst, D, de Geus, E J, van Dongen, J, Deelen, J, van den Berg, L H, van Meurs, J, Jansen, R, 't Hoen, P A C, Franke, L, Wijmenga, C, Veldink, J H, Swertz, M A, van Greevenbroek, M M J, van Duijn, C M, Boomsma, D I, Slagboom, P E & Heijmans, B T 2016, ' Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms ', Genome Biology, vol. 17 . https://doi.org/10.1186/s13059-016-1053-6

Background Epigenetic change is a hallmark of ageing but its link to ageing mechanisms in humans remains poorly understood. While DNA methylation at many CpG sites closely tracks chronological age, DNA methylation changes relevant to biological age a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8888316b49ead500ebe835779e5477d3
https://hdl.handle.net/1765/93446

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