Kristin Abbott

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• 2022

  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.

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• 2021

  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.

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  7 Citations (Scopus)

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• 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 othersKuijpers, T. W., Frederix, G. W. J., van Gijn, M. E. & van Montfrans, J. M., 21-Dec-2021, In: Frontiers in Immunology. 12, 11 p., 780134.

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  4 Citations (Scopus)

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• 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.

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  1 Citation (Scopus)

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• National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

  Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., van der Veken, L. T., Ernst, R. F., Simons, A., Zonneveld-Huijssoon, E., van der Hout, A. H., Abbott, K. M., Hoischen, A., Pieterse, M., Kuijpers, T. W., van Montfrans, J. M. & van Gijn, M. E., Jan-2021, In: European Journal of Human Genetics. 1, p. 20-28 9 p.

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  5 Citations (Scopus)

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• Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

  Imafidon, M. E., Sikkema-Raddatz, B., Abbott, K. M., Meems-Veldhuis, M. T., Swertz, M. A., van der Velde, K. J., Beunders, G., Bos, D. K., Knoers, N. V. A. M., Kerstjens-Frederikse, W. S. & van Diemen, C. C., 31-May-2021, In: Frontiers in Pediatrics. 9, 15 p., 600556.

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  2 Citations (Scopus)

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• 2020

  CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

  Li, S., van der Velde, K. J., de Ridder, D., van Dijk, A. D. J., Soudis, D., Zwerwer, L. R., Deelen, P., Hendriksen, D., Charbon, B., van Gijn, M. E., Abbott, K., Sikkema-Raddatz, B., van Diemen, C. C., Kerstjens-Frederikse, W. S., Sinke, R. J. & Swertz, M. A., 24-Aug-2020, In: Genome medicine. 12, 1, p. 75 11 p., 75.

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  13 Citations (Scopus)

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• GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

  Schuurmans, J., Birnie, E., Ranchor, A., Abbott, K. M., Fenwick, A., Lucassen, A., Berger, M. Y., Verkerk, M., van Langen, I. M. & Plantinga, M., Feb-2020, In: EJHG. 28, 2, p. 182-192 11 p.

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  9 Citations (Scopus)

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• 2019

  Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

  Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., & 3 othersLaros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec-2019, In: Human Mutation. 40, 12, p. 2230-2238 9 p.

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  19 Citations (Scopus)

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• Feasibility of couple-based expanded carrier screening offered by general practitioners

  Schuurmans, J., Birnie, E., van den Heuvel, L. M., Plantinga, M., Lucassen, A., van der Kolk, D. M., Abbott, K. M., Ranchor, A. V., Diemers, A. D. & van Langen, I. M., May-2019, In: EJHG. 27, 5, p. 691-700 10 p.

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  35 Citations (Scopus)

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• Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

  Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J., & 7 othersJongbloed, J. D. H., van Ravenswaaij-Arts, C. M. A., Sinke, R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In: Nature Communications. 10, 1, 13 p., 2837.

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  62 Citations (Scopus)

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• 2018

  Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

  Herkert, J. C., Abbott, K. M., Birnie, E., Meems-Veldhuis, M. T., Boven, L. G., Benjamins, M., Sarvaas, G. J. D. M., Barge-Schaapveld, D. Q. C. M., van Tintelen, J. P., van der Zwaag, P. A., Vos, Y. J., Sinke, R. J., van den Berg, M. P., van Langen, I. M. & Jongbloed, J. D. H., Nov-2018, In: Genetics in Medicine. 20, 11, p. 1374-1386 13 p.

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  27 Citations (Scopus)
• 2017

  GAVIN: Gene-Aware Variant INterpretation for medical sequencing

  van der Velde, K. J., de Boer, E. N., van Diemen, C. C., Sikkema-Raddatz, B., Abbott, K. M., Knopperts, A., Franke, L., Sijmons, R. H., de Koning, T. J., Wijmenga, C., Sinke, R. J. & Swertz, M. A., 16-Jan-2017, In: Genome Biology. 18, 1, 10 p., 6.

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  43 Citations (Scopus)

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• Rapid Targeted Genomics in Critically Ill Newborns

  van Diemen, C. C., Kerstjens-Frederikse, W. S., Bergman, K. A., de Koning, T. J., Sikkema-Raddatz, B., van der Velde, J. K., Abbott, K. M., Herkert, J. C., Löhner, K., Rump, P., Meems-Veldhuis, M. T., Neerincx, P. B. T., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M., Swertz, M. A., Sinke, R. J., van Langen, I. M. & Wijmenga, C., Oct-2017, In: Pediatrics. 140, 4, 11 p., 20162854.

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  76 Citations (Scopus)

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• 2016

  Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

  Plantinga, M., Birnie, E., Abbott, K. M., Sinke, R. J., Lucassen, A. M., Schuurmans, J., Kaplan, S., Verkerk, M. A., Ranchor, A. V. & van Langen, I. M., Oct-2016, In: European Journal of Human Genetics. 24, 10, p. 1417-1423 7 p.

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  58 Citations (Scopus)

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• 2015

  Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

  Deelen, P., Zhernakova, D. V., de Haan, M., van der Sijde, M., Bonder, M. J., Karjalainen, J., van der Velde, K. J., Abbott, K. M., Fu, J., Wijmenga, C., Sinke, R. J., Swertz, M. A. & Franke, L., 27-Mar-2015, In: Genome medicine. 7, 1, 13 p., 30.

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  2 Citations (Scopus)

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• Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

  van der Velde, K. J., Kuiper, J., Thompson, B. A., Plazzer, J-P., van Valkenhoef, G., de Haan, M., Jongbloed, J. D. H., Wijmenga, C., de Koning, T. J., Abbott, K. M., Sinke, R., Spurdle, A. B., Macrae, F., Genuardi, M., Sijmons, R. H., Swertz, M. A. & InSiGHT Grp, Jul-2015, In: Human Mutation. 36, 7, p. 712-719 8 p.

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  31 Citations (Scopus)

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• 2013

  Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

  Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., van de Kamp, J., Nieuwint, A., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., van Spaendonk, R. M. L., Shen, Y., Wu, B., Yu, T., Yu, Y., & 30 othersChiang, C., Gusella, J. F., Lindgren, A. M., Morton, C. C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S-M., Greenhalgh, L., Maye, U., Neill, N. J., Abbott, K. M., Sell, S., Ladda, R., Farber, D. M., Bader, P. I., Cushing, T., Drautz, J. M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M. T., Hopkins, E., Marshall, C. R., Osborne, L. R., Gripp, K. W., Thrush, D. L. & Hashimoto, S., 7-Feb-2013, In: American Journal of Human Genetics. 92, 2, p. 210-220 11 p.

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  112 Citations (Scopus)