Research output per year
Research output per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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, p. 127-133 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)19 Downloads (Pure) -
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., 22-Nov-2022, (E-pub ahead of print) In: European Journal of Human Genetics. 4 p.Research output: Contribution to journal › Letter › Academic › peer-review
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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., Sept-2021, In: Genetics in Medicine. 23, 9, p. 1761-1768 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)26 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 others, 21-Dec-2021, In: Frontiers in Immunology. 12, 11 p., 780134.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)73 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, p. 753-764 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)130 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 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 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 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