Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Netwerk
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
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The role of TBX18 in congenital heart defects in humans not confirmed
Engwerda, A., Abbott, K. M., Hitzert, M. M., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., feb.-2023, In: European Journal of Human Genetics. 31, blz. 138–141 4 blz.Onderzoeksoutput: Letter › Academic › peer review
Open AccessBestand -
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Genomics England Research Consortium, Pagnamenta, A. T., Jackson, A., Perveen, R., Beaman, G., Petts, G., Gupta, A., Hyder, Z., Chung, B. H. Y., Kan, A. S. Y., Cheung, K. W., Kerstjens-Frederikse, W. S., Abbott, K. M., Elpeleg, O., Taylor, J. C., Banka, S. & Ta-Shma, A., jan.-2022, In: Clinical Genetics. 101, 1, blz. 127-133 7 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand4 Citaten (Scopus)20 Downloads (Pure) -
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions
Birnie, E., Schuurmans, J., Plantinga, M., Abbott, K. M., Fenwick, A., Lucassen, A., Berger, M. Y., van Langen, I. M. & Ranchor, A. V., sep.-2021, In: Genetics in Medicine. 23, 9, blz. 1761-1768 8 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand8 Citaten (Scopus)28 Downloads (Pure) -
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
the Genetics First for Primary Immunodeficiency Disorders Consortium, Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., Simons, A., Zonneveld-Huijssoon, E., van der Veken, L. T., Leavis, H. L., Henriet, S. S. V., van Deuren, M., van de Veerdonk, F. L., Potjewijd, J., Berghuis, D., Dalm, V. A. S. H., Vermont, C. L., van de Ven, A. A. J. M., Lambeck, A. J. A., Abbott, K. M., van Hagen, P. M., de Bree, G. J., & 4 anderen, 21-dec.-2021, In: Frontiers in Immunology. 12, 11 blz., 780134.Onderzoeksoutput › Academic › peer review
Open AccessBestand6 Citaten (Scopus)79 Downloads (Pure) -
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants
Milligan, J. N., Larson, J. L., Filipovic-Sadic, S., Laosinchai-Wolf, W., Huang, Y-W., Ko, T-M., Abbott, K. M., Lemmink, H. H., Toivonen, M., Schleutker, J., Gentile, C., Van Deerlin, V. M., Zhu, H. & Latham, G. J., jun.-2021, In: Journal of molecular diagnostics. 23, 6, blz. 753-764 12 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)142 Downloads (Pure)
Datasets
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Additional file 4: Table S4. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van Diemen, C. (Contributor), Wijmenga, C. (Contributor), Franke, L. (Contributor), van der Velde, J. (Contributor), Sinke, R. (Contributor), Swertz, M. (Contributor), Raddatz, B. (Contributor), de Boer, E. (Contributor), Knopperts, A. (Contributor), de Koning, T. (Contributor), Sijmons, R. (Contributor) & Abbott, K. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d1.v1
Dataset
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Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor), Swertz, M. (Contributor), de Boer, E. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor), van Diemen, C. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Abbott, K. (Contributor) & van der Velde, J. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d2.v1
Dataset
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Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset
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Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset