Search

Your search keyword '"Schobers, G.M.G."' showing total 8 results
Start Over Author "Schobers, G.M.G."
8 results on '"Schobers, G.M.G."'

1. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Author

Sanden, B. van der, Schobers, G.M.G., Corominas-Galbany, J., Koolen, D.A., Sinnema, M., Reeuwijk, J. van, Stumpel, C.T., Kleefstra, T., Vries, B.B. de, Ruiterkamp-Versteeg, M., Leijsten, N., Kwint, M.P., Derks, R.C., Swinkels, H.L., Ouden, A.P.M. den, Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Stegmann, A.P.A., Stevens, S.J.C., Wijngaard, A. van den, Brunner, H.G., Yntema, H.G., Gilissen, C., Nelen, M.R., Vissers, L.E.L.M., Sanden, B. van der, Schobers, G.M.G., Corominas-Galbany, J., Koolen, D.A., Sinnema, M., Reeuwijk, J. van, Stumpel, C.T., Kleefstra, T., Vries, B.B. de, Ruiterkamp-Versteeg, M., Leijsten, N., Kwint, M.P., Derks, R.C., Swinkels, H.L., Ouden, A.P.M. den, Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Stegmann, A.P.A., Stevens, S.J.C., Wijngaard, A. van den, Brunner, H.G., Yntema, H.G., Gilissen, C., Nelen, M.R., and Vissers, L.E.L.M.

Abstract

01 januari 2023, Item does not contain fulltext, Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard of care (SOC) by assessing the technical and clinical validity of GS for patients with neurodevelopmental disorders (NDD). We performed both GS and exome sequencing in 150 consecutive NDD patient-parent trios. The primary outcome was diagnostic yield, calculated from disease-causing variants affecting exonic sequence of known NDD genes. GS (30%, n = 45) and SOC (28.7%, n = 43) had similar diagnostic yield. All 43 conclusive diagnoses obtained with SOC testing were also identified by GS. SOC, however, required integration of multiple test results to obtain these diagnoses. GS yielded two more conclusive diagnoses, and four more possible diagnoses than ES-based SOC (35 vs. 31). Interestingly, these six variants detected only by GS were copy number variants (CNVs). Our data demonstrate the technical and clinical validity of GS to serve as routine first-tier genetic test for patients with NDD. Although the additional diagnostic yield from GS is limited, GS comprehensively identified all variants in a single experiment, suggesting that GS constitutes a more efficient genetic diagnostic workflow.

Published
2023

2. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Author

Sanden, B. van der, Schobers, G.M.G., Corominas-Galbany, J., Koolen, D.A., Sinnema, M., Reeuwijk, J. van, Stumpel, C.T., Kleefstra, T., Vries, B.B. de, Ruiterkamp-Versteeg, M., Leijsten, N., Kwint, M.P., Derks, R.C., Swinkels, H.L., Ouden, A.P.M. den, Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Stegmann, A.P.A., Stevens, S.J.C., Wijngaard, A. van den, Brunner, H.G., Yntema, H.G., Gilissen, C., Nelen, M.R., Vissers, L.E.L.M., Sanden, B. van der, Schobers, G.M.G., Corominas-Galbany, J., Koolen, D.A., Sinnema, M., Reeuwijk, J. van, Stumpel, C.T., Kleefstra, T., Vries, B.B. de, Ruiterkamp-Versteeg, M., Leijsten, N., Kwint, M.P., Derks, R.C., Swinkels, H.L., Ouden, A.P.M. den, Pfundt, R.P., Rinne, T.K., Leeuw, N. de, Stegmann, A.P.A., Stevens, S.J.C., Wijngaard, A. van den, Brunner, H.G., Yntema, H.G., Gilissen, C., Nelen, M.R., and Vissers, L.E.L.M.

Abstract

01 januari 2023, Item does not contain fulltext, Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard of care (SOC) by assessing the technical and clinical validity of GS for patients with neurodevelopmental disorders (NDD). We performed both GS and exome sequencing in 150 consecutive NDD patient-parent trios. The primary outcome was diagnostic yield, calculated from disease-causing variants affecting exonic sequence of known NDD genes. GS (30%, n = 45) and SOC (28.7%, n = 43) had similar diagnostic yield. All 43 conclusive diagnoses obtained with SOC testing were also identified by GS. SOC, however, required integration of multiple test results to obtain these diagnoses. GS yielded two more conclusive diagnoses, and four more possible diagnoses than ES-based SOC (35 vs. 31). Interestingly, these six variants detected only by GS were copy number variants (CNVs). Our data demonstrate the technical and clinical validity of GS to serve as routine first-tier genetic test for patients with NDD. Although the additional diagnostic yield from GS is limited, GS comprehensively identified all variants in a single experiment, suggesting that GS constitutes a more efficient genetic diagnostic workflow.

Published
2023

3. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Author

Schobers, G.M.G., Schieving, J.H., Yntema, H.G., Pennings, Maartje, Pfundt, R.P., Derks, R.C., Hofste, Tom, Wijs, I.J. de, Wieskamp, N.A., Heuvel, Simone van den, Corominas-Galbany, J., Gilissen, C.F.H.A., Nelen, M.R., Brunner, H.G., Kleefstra, T., Kamsteeg, E.J., Willemsen, M.A.A.P., Vissers, L.E.L.M., Schobers, G.M.G., Schieving, J.H., Yntema, H.G., Pennings, Maartje, Pfundt, R.P., Derks, R.C., Hofste, Tom, Wijs, I.J. de, Wieskamp, N.A., Heuvel, Simone van den, Corominas-Galbany, J., Gilissen, C.F.H.A., Nelen, M.R., Brunner, H.G., Kleefstra, T., Kamsteeg, E.J., Willemsen, M.A.A.P., and Vissers, L.E.L.M.

Abstract

Item does not contain fulltext

Published
2022

4. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Author

Schobers, G.M.G., Schieving, J.H., Yntema, H.G., Pennings, Maartje, Pfundt, R.P., Derks, R.C., Hofste, Tom, Wijs, I.J. de, Wieskamp, N.A., Heuvel, Simone van den, Corominas-Galbany, J., Gilissen, C.F.H.A., Nelen, M.R., Brunner, H.G., Kleefstra, T., Kamsteeg, E.J., Willemsen, M.A.A.P., Vissers, L.E.L.M., Schobers, G.M.G., Schieving, J.H., Yntema, H.G., Pennings, Maartje, Pfundt, R.P., Derks, R.C., Hofste, Tom, Wijs, I.J. de, Wieskamp, N.A., Heuvel, Simone van den, Corominas-Galbany, J., Gilissen, C.F.H.A., Nelen, M.R., Brunner, H.G., Kleefstra, T., Kamsteeg, E.J., Willemsen, M.A.A.P., and Vissers, L.E.L.M.

Abstract

Contains fulltext : 251385.pdf (Publisher’s version ) (Open Access)

Published
2022

5. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Author

Schobers, G.M.G. and Schobers, G.M.G.

Subjects
All institutes and research themes of the Radboud University Medical Center., Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience., Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience.
Published
2022

6. Liquid biopsy: state of reproductive medicine and beyond

Author

Schobers, G.M.G., Koeck, R., Pellaers, D., Stevens, S.J.C., Macville, M.V.E., Paulussen, A.D., Coonen, E., Wijngaard, A. van den, Die-Smulders, C. de, Wert, G. de, Brunner, H.G., Esteki, M. Zamani, Schobers, G.M.G., Koeck, R., Pellaers, D., Stevens, S.J.C., Macville, M.V.E., Paulussen, A.D., Coonen, E., Wijngaard, A. van den, Die-Smulders, C. de, Wert, G. de, Brunner, H.G., and Esteki, M. Zamani

Abstract

Item does not contain fulltext, Liquid biopsy is the process of sampling and analyzing body fluids, which enables non-invasive monitoring of complex biological systems in vivo. Liquid biopsy has myriad applications in health and disease as a wide variety of components, ranging from circulating cells to cell-free nucleic acid molecules, can be analyzed. Here, we review different components of liquid biopsy, survey state-of-the-art, non-invasive methods for detecting those components, demonstrate their clinical applications and discuss ethical considerations. Furthermore, we emphasize the importance of artificial intelligence in analyzing liquid biopsy data with the aim of developing ethically-responsible non-invasive technologies that can enhance individualized healthcare. While previous reviews have mainly focused on cancer, this review primarily highlights applications of liquid biopsy in reproductive medicine.

Published
2021

7. Liquid biopsy: state of reproductive medicine and beyond

Author

Schobers, G.M.G., Koeck, R., Pellaers, D., Stevens, S.J.C., Macville, M.V.E., Paulussen, A.D., Coonen, E., Wijngaard, A. van den, Die-Smulders, C. de, Wert, G. de, Brunner, H.G., Esteki, M. Zamani, Schobers, G.M.G., Koeck, R., Pellaers, D., Stevens, S.J.C., Macville, M.V.E., Paulussen, A.D., Coonen, E., Wijngaard, A. van den, Die-Smulders, C. de, Wert, G. de, Brunner, H.G., and Esteki, M. Zamani

Abstract

Contains fulltext : 244031.pdf (Publisher’s version ) (Open Access), Liquid biopsy is the process of sampling and analyzing body fluids, which enables non-invasive monitoring of complex biological systems in vivo. Liquid biopsy has myriad applications in health and disease as a wide variety of components, ranging from circulating cells to cell-free nucleic acid molecules, can be analyzed. Here, we review different components of liquid biopsy, survey state-of-the-art, non-invasive methods for detecting those components, demonstrate their clinical applications and discuss ethical considerations. Furthermore, we emphasize the importance of artificial intelligence in analyzing liquid biopsy data with the aim of developing ethically-responsible non-invasive technologies that can enhance individualized healthcare. While previous reviews have mainly focused on cancer, this review primarily highlights applications of liquid biopsy in reproductive medicine.

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results