Kristin Abbott

Search results

• 2023

  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, p. 138–141 4 p.

  Research output: Contribution to journal › Letter › Academic › peer-review

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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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  2 Citations (Scopus)

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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.

  Research output: Contribution to journal › Article › Academic › peer-review

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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.

  Research output: Contribution to journal › Article › Academic › peer-review

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  5 Citations (Scopus)

  50 Downloads (Pure)

• 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.

  Research output: Contribution to journal › Article › Academic › peer-review

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  3 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.

  Research output: Contribution to journal › Article › Academic › peer-review

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  13 Citations (Scopus)

  95 Downloads (Pure)

• 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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• Population-based preconception expanded carrier screening for severe recessive disorders: Does a GP-provided test offer with couple results meet criteria for responsible implementation?

  Schuurmans, J., Plantinga, M., Birnie, E., Abbott, K. M., Diemers, A. D., Van der Kolk, D. M., Van den Heuvel, L. M., Berger, M. Y., Verkerk, M., Fenwick, A., Ranchor, A. V., Lucassen, A. & Van Langen, I. M., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 153-153 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 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.

  Research output: Contribution to journal › Article › Academic › peer-review

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  19 Citations (Scopus)

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• Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations

  Berger, G., van den Berg, E., Smetsers, S., Leegte, B. K., Sijmons, R. H., Abbott, K. M., Mulder, A. B. & Vellenga, E., Mar-2019, In: British Journal of Haematology. 184, 6, p. 1071-1073 3 p.

  Research output: Contribution to journal › Letter › Academic › peer-review

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  4 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.

  Research output: Contribution to journal › Article › Academic › peer-review

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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.

  Research output: Contribution to journal › Article › Academic › peer-review

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  62 Citations (Scopus)

  270 Downloads (Pure)

• NGS expanded carrier screening in the Netherlands: initial implementation results

  Abbott, K. M., Dijkhuizen, T., Veldhuis, M., Schuurmans, J., van Langen, I. & Sinke, R. J., Jul-2019, In: European Journal of Human Genetics. 27, p. 13-13 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

• Short and long-term psychological impact of an active GP-provided couple-based ECS test-offer in the Dutch general population

  Schuurmans, J., Plantinga, M., Lucassen, A., Fenwick, A., Abbott, K., Birnie, E., van Langen, I. & Ranchor, A., Jul-2019, In: European Journal of Human Genetics. 27, p. 709-709 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 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.

  Research output: Contribution to journal › Article › Academic › peer-review

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  27 Citations (Scopus)
• 2017

  A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients

  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., 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., 14-Nov-2017, In: Circulation. 136, 2 p., A18198.

  Research output: Contribution to journal › Meeting Abstract › Academic

• 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)

  340 Downloads (Pure)

• 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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• Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

  Berger, G., van den Berg, E., Sikkema-Raddatz, B., Abbott, K. M., Sinke, R. J., Bungener, L., Mulder, A. & Vellenga, E., Feb-2017, In: Leukemia. 31, 2, p. 520-522 3 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

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  50 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.

  Research output: Contribution to journal › Article › Academic › peer-review

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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.

  Research output: Contribution to journal › Article › Academic › peer-review
  112 Citations (Scopus)

• Resolving Variants of Unknown Significance Through Large-Scale RNA-seq

  Zhernakova, D., Deelen, P., van der Sijde, M., van der Velde, J., de Haan, M., Abbott, K., Wijmenga, C., Sinke, R., Swertz, M., Fu, J. & Franke, L., 2013, In: Human heredity. 76, 2, p. 106-107 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic