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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

European journal of human genetics : EJHG

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.
PMID: 26269248
Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44.

No abstract available.

Cite
Vrijenhoek T, Kraaijeveld K, Elferink M, et al. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. 2015;23(9):1270doi: 10.1038/ejhg.2015.44.
Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J., van den Hout, M. C., van Hove, S., Johansson, L. F., Jongbloed, J. D., Kamps, R., Kockx, C. E., de Koning, B., Kriek, M., Deprez, R. L., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Weiss, J. M., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van IJcken, W. F., den Dunnen, J. T., Veltman, J. A., Hennekam, R., & Cuppen, E. (2015). Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. European journal of human genetics : EJHG, 23(9), 1270. https://doi.org/10.1038/ejhg.2015.44
Vrijenhoek, Terry, et al. "Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects." European journal of human genetics : EJHG vol. 23,9 (2015): 1270. doi: https://doi.org/10.1038/ejhg.2015.44
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. PMID: 26269248; PMCID: PMC4538204.
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Co-adsorption of O and H(2)O on nanostructured platinum surfaces: Does OH form at steps?.

Angewandte Chemie (International ed. in English)

van der Niet MJ, den Dunnen A, Juurlink LB, Koper MT.
PMID: 20677191
Angew Chem Int Ed Engl. 2010 Sep 03;49(37):6572-5. doi: 10.1002/anie.201002124.

No abstract available.

Cite
van der Niet MJ, den Dunnen A, Juurlink LB, et al. Co-adsorption of O and H(2)O on nanostructured platinum surfaces: Does OH form at steps?. Angew Chem Int Ed Engl. 2010;49(37):6572-5doi: 10.1002/anie.201002124.
van der Niet, M. J., den Dunnen, A., Juurlink, L. B., & Koper, M. T. (2010). Co-adsorption of O and H(2)O on nanostructured platinum surfaces: Does OH form at steps?. Angewandte Chemie (International ed. in English), 49(37), 6572-5. https://doi.org/10.1002/anie.201002124
van der Niet, Maria J T C, et al. "Co-adsorption of O and H(2)O on nanostructured platinum surfaces: Does OH form at steps?." Angewandte Chemie (International ed. in English) vol. 49,37 (2010): 6572-5. doi: https://doi.org/10.1002/anie.201002124
van der Niet MJ, den Dunnen A, Juurlink LB, Koper MT. Co-adsorption of O and H(2)O on nanostructured platinum surfaces: Does OH form at steps?. Angew Chem Int Ed Engl. 2010 Sep 03;49(37):6572-5. doi: 10.1002/anie.201002124. PMID: 20677191.
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Bounding W-W' mixing with spin asymmetries at RHIC.

Physical review letters

Boer D, den Dunnen WJ.
PMID: 20868030
Phys Rev Lett. 2010 Aug 13;105(7):071801. doi: 10.1103/PhysRevLett.105.071801. Epub 2010 Aug 10.

The W boson can obtain a small right-handed coupling to quarks and leptons through mixing with a hypothetical W^{'} boson that appears in many extensions of the standard model. Measuring or even bounding this coupling to the light quarks...

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Boer D, den Dunnen WJ. Bounding W-W' mixing with spin asymmetries at RHIC. Phys Rev Lett. 2010;105(7):071801doi: 10.1103/PhysRevLett.105.071801.
Boer, D., & den Dunnen, W. J. (2010). Bounding W-W' mixing with spin asymmetries at RHIC. Physical review letters, 105(7), 071801. https://doi.org/10.1103/PhysRevLett.105.071801
Boer, Daniël, and den Dunnen, Wilco J. "Bounding W-W' mixing with spin asymmetries at RHIC." Physical review letters vol. 105,7 (2010): 071801. doi: https://doi.org/10.1103/PhysRevLett.105.071801
Boer D, den Dunnen WJ. Bounding W-W' mixing with spin asymmetries at RHIC. Phys Rev Lett. 2010 Aug 13;105(7):071801. doi: 10.1103/PhysRevLett.105.071801. Epub 2010 Aug 10. PMID: 20868030.
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Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (.

International journal of molecular sciences

Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R.
PMID: 35008485
Int J Mol Sci. 2021 Dec 22;23(1). doi: 10.3390/ijms23010059.

While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this work, we present a Becker Muscular...

Cite
Gonçalves A, Fortuna A, Ariyurek Y, et al. Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (. Int J Mol Sci. 2021;23(1)doi: 10.3390/ijms23010059.
Gonçalves, A., Fortuna, A., Ariyurek, Y., Oliveira, M. E., Nadais, G., Pinheiro, J., den Dunnen, J. T., Sousa, M., Oliveira, J., & Santos, R. (2021). Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (. International journal of molecular sciences, 23(1), . https://doi.org/10.3390/ijms23010059
Gonçalves, Ana, et al. "Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (." International journal of molecular sciences vol. 23,1 (2021). doi: https://doi.org/10.3390/ijms23010059
Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R. Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (. Int J Mol Sci. 2021 Dec 22;23(1). doi: 10.3390/ijms23010059. PMID: 35008485.
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The LOVD3 platform: efficient genome-wide sharing of genetic variants.

European journal of human genetics : EJHG

Fokkema IFAC, Kroon M, López Hernández JA, Asscheman D, Lugtenburg I, Hoogenboom J, den Dunnen JT.
PMID: 34521998
Eur J Hum Genet. 2021 Dec;29(12):1796-1803. doi: 10.1038/s41431-021-00959-x. Epub 2021 Sep 15.

Gene variant databases are the backbone of DNA-based diagnostics. These databases, also called Locus-Specific DataBases (LSDBs), store information on variants in the human genome and the observed phenotypic consequences. The largest collection of public databases uses the free, open-source...

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Fokkema IFAC, Kroon M, López Hernández JA, et al. The LOVD3 platform: efficient genome-wide sharing of genetic variants. Eur J Hum Genet. 2021;29(12):1796-1803doi: 10.1038/s41431-021-00959-x.
Fokkema, I. F. A. C., Kroon, M., López Hernández, J. A., Asscheman, D., Lugtenburg, I., Hoogenboom, J., & den Dunnen, J. T. (2021). The LOVD3 platform: efficient genome-wide sharing of genetic variants. European journal of human genetics : EJHG, 29(12), 1796-1803. https://doi.org/10.1038/s41431-021-00959-x
Fokkema, Ivo F A C, et al. "The LOVD3 platform: efficient genome-wide sharing of genetic variants." European journal of human genetics : EJHG vol. 29,12 (2021): 1796-1803. doi: https://doi.org/10.1038/s41431-021-00959-x
Fokkema IFAC, Kroon M, López Hernández JA, Asscheman D, Lugtenburg I, Hoogenboom J, den Dunnen JT. The LOVD3 platform: efficient genome-wide sharing of genetic variants. Eur J Hum Genet. 2021 Dec;29(12):1796-1803. doi: 10.1038/s41431-021-00959-x. Epub 2021 Sep 15. PMID: 34521998.
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Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (.

International journal of molecular sciences

Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R.
PMID: 35008485
Int J Mol Sci. 2021 Dec 22;23(1). doi: 10.3390/ijms23010059.

While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this work, we present a Becker Muscular...

Cite
Gonçalves A, Fortuna A, Ariyurek Y, et al. Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (. Int J Mol Sci. 2021;23(1)doi: 10.3390/ijms23010059.
Gonçalves, A., Fortuna, A., Ariyurek, Y., Oliveira, M. E., Nadais, G., Pinheiro, J., den Dunnen, J. T., Sousa, M., Oliveira, J., & Santos, R. (2021). Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (. International journal of molecular sciences, 23(1), . https://doi.org/10.3390/ijms23010059
Gonçalves, Ana, et al. "Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (." International journal of molecular sciences vol. 23,1 (2021). doi: https://doi.org/10.3390/ijms23010059
Gonçalves A, Fortuna A, Ariyurek Y, Oliveira ME, Nadais G, Pinheiro J, den Dunnen JT, Sousa M, Oliveira J, Santos R. Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (. Int J Mol Sci. 2021 Dec 22;23(1). doi: 10.3390/ijms23010059. PMID: 35008485; PMCID: PMC8744749.
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Peripheral nerve regeneration through P(DLLA-epsilon-CL) nerve guides.

Journal of materials science. Materials in medicine

Den Dunnen WF, Meek MF, Robinson PH, Schakernraad JM.
PMID: 15348945
J Mater Sci Mater Med. 1998 Dec;9(12):811-4. doi: 10.1023/a:1008987910224.

P(DLLA-epsilon-CL) nerve guides can be used perfectly for short nerve gaps in rats, and are even better than short autologous nerve grafts. The tube dimensions, such as the internal diameter and wall thickness, are very important for the final...

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Den Dunnen WF, Meek MF, Robinson PH, et al. Peripheral nerve regeneration through P(DLLA-epsilon-CL) nerve guides. J Mater Sci Mater Med. 1998;9(12):811-4doi: 10.1023/a:1008987910224.
Den Dunnen, W. F., Meek, M. F., Robinson, P. H., & Schakernraad, J. M. (1998). Peripheral nerve regeneration through P(DLLA-epsilon-CL) nerve guides. Journal of materials science. Materials in medicine, 9(12), 811-4. https://doi.org/10.1023/a:1008987910224
Den Dunnen, W F, et al. "Peripheral nerve regeneration through P(DLLA-epsilon-CL) nerve guides." Journal of materials science. Materials in medicine vol. 9,12 (1998): 811-4. doi: https://doi.org/10.1023/a:1008987910224
Den Dunnen WF, Meek MF, Robinson PH, Schakernraad JM. Peripheral nerve regeneration through P(DLLA-epsilon-CL) nerve guides. J Mater Sci Mater Med. 1998 Dec;9(12):811-4. doi: 10.1023/a:1008987910224. PMID: 15348945.
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Mutation (variation) databases and registries: a rationale for coordination of efforts.

Nature reviews. Genetics

Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C.
PMID: 22025002
Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1.

No abstract available.

Cite
Auerbach AD, Burn J, Cassiman JJ, et al. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet. 2011;12(12):881; discussion 881doi: 10.1038/nrg3011-c1.
Auerbach, A. D., Burn, J., Cassiman, J. J., Claustres, M., Cotton, R. G., Cutting, G., den Dunnen, J. T., El-Ruby, M., Vargas, A. F., Greenblatt, M. S., Macrae, F., Matsubara, Y., Rimoin, D. L., Vihinen, M., & Van Broeckhoven, C. (2011). Mutation (variation) databases and registries: a rationale for coordination of efforts. Nature reviews. Genetics, 12(12), 881; discussion 881. https://doi.org/10.1038/nrg3011-c1
Auerbach, Arleen D, et al. "Mutation (variation) databases and registries: a rationale for coordination of efforts." Nature reviews. Genetics vol. 12,12 (2011): 881; discussion 881. doi: https://doi.org/10.1038/nrg3011-c1
Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1. PMID: 22025002.
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The influence of step geometry on the desorption characteristics of O2, D2, and H2O from stepped Pt surfaces.

The Journal of chemical physics

van der Niet MJ, den Dunnen A, Juurlink LB, Koper MT.
PMID: 20459181
J Chem Phys. 2010 May 07;132(17):174705. doi: 10.1063/1.3407434.

We have compared the desorption characteristics of O(2), D(2), and H(2)O from the Pt(533) surface to the Pt(553) surface using temperature programmed desorption. Both surfaces consist of four atom wide (111) terraces interrupted by monoatomic steps of the different...

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van der Niet MJ, den Dunnen A, Juurlink LB, et al. The influence of step geometry on the desorption characteristics of O2, D2, and H2O from stepped Pt surfaces. J Chem Phys. 2010;132(17):174705doi: 10.1063/1.3407434.
van der Niet, M. J., den Dunnen, A., Juurlink, L. B., & Koper, M. T. (2010). The influence of step geometry on the desorption characteristics of O2, D2, and H2O from stepped Pt surfaces. The Journal of chemical physics, 132(17), 174705. https://doi.org/10.1063/1.3407434
van der Niet, Maria J T C, et al. "The influence of step geometry on the desorption characteristics of O2, D2, and H2O from stepped Pt surfaces." The Journal of chemical physics vol. 132,17 (2010): 174705. doi: https://doi.org/10.1063/1.3407434
van der Niet MJ, den Dunnen A, Juurlink LB, Koper MT. The influence of step geometry on the desorption characteristics of O2, D2, and H2O from stepped Pt surfaces. J Chem Phys. 2010 May 07;132(17):174705. doi: 10.1063/1.3407434. PMID: 20459181.
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Reaction dynamics of initial O2 sticking on Pd(100).

The Journal of chemical physics

den Dunnen A, Wiegman S, Jacobse L, Juurlink LB.
PMID: 26049517
J Chem Phys. 2015 Jun 07;142(21):214708. doi: 10.1063/1.4921571.

We have determined the initial sticking probability of O2 on Pd(100) using the King and Wells method for various kinetic energies, surface temperatures, and incident angles. The data suggest two different mechanisms to sticking and dissociation. Dissociation proceeds mostly...

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den Dunnen A, Wiegman S, Jacobse L, et al. Reaction dynamics of initial O2 sticking on Pd(100). J Chem Phys. 2015;142(21):214708doi: 10.1063/1.4921571.
den Dunnen, A., Wiegman, S., Jacobse, L., & Juurlink, L. B. (2015). Reaction dynamics of initial O2 sticking on Pd(100). The Journal of chemical physics, 142(21), 214708. https://doi.org/10.1063/1.4921571
den Dunnen, Angela, et al. "Reaction dynamics of initial O2 sticking on Pd(100)." The Journal of chemical physics vol. 142,21 (2015): 214708. doi: https://doi.org/10.1063/1.4921571
den Dunnen A, Wiegman S, Jacobse L, Juurlink LB. Reaction dynamics of initial O2 sticking on Pd(100). J Chem Phys. 2015 Jun 07;142(21):214708. doi: 10.1063/1.4921571. PMID: 26049517.
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Control of cytokine production by human fc gamma receptors: implications for pathogen defense and autoimmunity.

Frontiers in immunology

Vogelpoel LT, Baeten DL, de Jong EC, den Dunnen J.
PMID: 25759693
Front Immunol. 2015 Feb 24;6:79. doi: 10.3389/fimmu.2015.00079. eCollection 2015.

Control of cytokine production by immune cells is pivotal for counteracting infections via orchestration of local and systemic inflammation. Although their contribution has long been underexposed, it has recently become clear that human Fc gamma receptors (FcγRs), which are...

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Vogelpoel LT, Baeten DL, de Jong EC, et al. Control of cytokine production by human fc gamma receptors: implications for pathogen defense and autoimmunity. Front Immunol. 2015;6:79doi: 10.3389/fimmu.2015.00079.
Vogelpoel, L. T., Baeten, D. L., de Jong, E. C., & den Dunnen, J. (2015). Control of cytokine production by human fc gamma receptors: implications for pathogen defense and autoimmunity. Frontiers in immunology, 679. https://doi.org/10.3389/fimmu.2015.00079
Vogelpoel, Lisa T C, et al. "Control of cytokine production by human fc gamma receptors: implications for pathogen defense and autoimmunity." Frontiers in immunology vol. 6 (2015): 79. doi: https://doi.org/10.3389/fimmu.2015.00079
Vogelpoel LT, Baeten DL, de Jong EC, den Dunnen J. Control of cytokine production by human fc gamma receptors: implications for pathogen defense and autoimmunity. Front Immunol. 2015 Feb 24;6:79. doi: 10.3389/fimmu.2015.00079. eCollection 2015. PMID: 25759693; PMCID: PMC4338787.
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BCFPI Validation for a High-risk High-needs Sample of Children and Youth Admitted to Tertiary Care.

Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent

Cook S, Leschied AW, St Pierre J, Stewart SL, den Dunnen W, Johnson AM.
PMID: 23667361
J Can Acad Child Adolesc Psychiatry. 2013 May;22(2):147-52.

OBJECTIVE: This study examined the validity and reliability of the Brief Child and Family Phone Interview (BCFPI) in a sample of high-risk, high-need children and youth admitted to a tertiary residential psychiatric facility. This is the first validation study...

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Cook S, Leschied AW, St Pierre J, et al. BCFPI Validation for a High-risk High-needs Sample of Children and Youth Admitted to Tertiary Care. J Can Acad Child Adolesc Psychiatry. 2013;22(2):147-52
Cook, S., Leschied, A. W., St Pierre, J., Stewart, S. L., den Dunnen, W., & Johnson, A. M. (2013). BCFPI Validation for a High-risk High-needs Sample of Children and Youth Admitted to Tertiary Care. Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent, 22(2), 147-52.
Cook, Steven, et al. "BCFPI Validation for a High-risk High-needs Sample of Children and Youth Admitted to Tertiary Care." Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent vol. 22,2 (2013): 147-52.
Cook S, Leschied AW, St Pierre J, Stewart SL, den Dunnen W, Johnson AM. BCFPI Validation for a High-risk High-needs Sample of Children and Youth Admitted to Tertiary Care. J Can Acad Child Adolesc Psychiatry. 2013 May;22(2):147-52. PMID: 23667361; PMCID: PMC3647631.
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Showing 1 to 12 of 47 entries