1. 2022
  2. Accelerated Idioventricular Rhythm in a Young Athlete: Physiology or Pathology?

    Bijsterveld, N. R., van der Crabben, S. N., Groenink, M., Wilde, A. & Jørstad, H., 7 Dec 2022, In: JACC: Case Reports. 4, 23, 101657.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

    NYGC ALS Consortium, 1 Dec 2022, In: Communications Biology. 5, 1, 314.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), 1 Dec 2022, In: Hereditary cancer in clinical practice. 20, 1, 36.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Modulation of macrophage inflammatory function through selective inhibition of the epigenetic reader protein SP140

    Ghiboub, M., Koster, J., Craggs, P. D., Li Yim, A. Y. F., Shillings, A., Hutchinson, S., Bingham, R. P., Gatfield, K., Hageman, I. L., Yao, G., O’Keefe, H. P., Coffin, A., Patel, A., Sloan, L. A., Mitchell, D. J., Hayhow, T. G., Lunven, L., Watson, R. J., Blunt, C. E., Harrison, L. A., & 15 othersBruton, G., Kumar, U., Hamer, N., Spaull, J. R., Zwijnenburg, D. A., Welting, O., Hakvoort, T. B. M., te Velde, A. A., van Limbergen, J., Henneman, P., Prinjha, R. K., de Winther, M. P. J., Harker, N. R., Tough, D. F. & de Jonge, W. J., 1 Dec 2022, In: BMC biology. 20, 1, 182.

    Research output: Contribution to journalArticleAcademicpeer-review

  6. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

    Dingemans, A. J. M., Truijen, K. M. G., van de Ven, S., Bernier, R., Bongers, E. M. H. F., Bouman, A., de Graaff – Herder, L., Eichler, E. E., Gerkes, E. H., de Geus, C. M., van Hagen, J. M., Jansen, P. R., Kerkhof, J., Kievit, A. J. A., Kleefstra, T., Maas, S. M., de Man, S. A., McConkey, H., Patterson, W. G., Dobson, A. T., & 15 othersPrijoles, E. J., Sadikovic, B., Relator, R., Stevenson, R. E., Stumpel, C. T. R. M., Heijligers, M., Stuurman, K. E., Löhner, K., Zeidler, S., Lee, J. A., Lindy, A., Zou, F., Tedder, M. L., Vissers, L. E. L. M. & de Vries, B. B. A., 1 Dec 2022, In: Translational psychiatry. 12, 1, 421.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. Meta-analysis of DNA methylation datasets shows aberrant DNA methylation of thyroid development or function genes in Down syndrome

    Lauffer, P., Zwaveling-Soonawala, N., Li, S., Bacalini, M. G., Naumova, O. Y., Wiemels, J., Boelen, A., Henneman, P., de Smith, A. J. & van Trotsenburg, A. S. P., 3 Nov 2022, (E-pub ahead of print) In: Thyroid.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

    van de Sompele, S., Small, K. W., Cicekdal, M. B., Soriano, V. C. L. P., D'haene, E., Shaya, F. S., Agemy, S., van der Snickt, T., Rey, A. D., Rosseel, T., van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A. A., Boon, C. J. F., de Zaeytijd, J., Inglehearn, C. F., Kousal, B., Leroy, B. P., Rivolta, C., & 9 othersVaclavik, V., van den Ende, J., van Schooneveld, M. J., Gómez-Skarmeta, J. L., Tena, J. J., Martinez-Morales, J. R., Liskova, P., Vleminckx, K. & de Baere, E., 3 Nov 2022, In: American journal of human genetics. 109, 11, p. 2029-2048 20 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in Families

    Icho, S., Korten, N., Reus, L., Belderok, T., Krudop, W., Gossink, F., van Ruissen, F., Cohn-Hokke, P., Feller, R., van Swieten, J., Dols, A. & Pijnenburg, Y., 2 Nov 2022, In: Journal of clinical psychiatry. 83, 6

    Research output: Contribution to journalArticleAcademicpeer-review

  10. Intracellular pyruvate levels positively correlate with cytokine production capacity in tolerant monocytes from patients with pneumonia

    Otto, N. A., Butler, J. M., Schuurman, A. R., Brands, X., Haak, B. W., Klarenbeek, A. M., van Weeghel, M., Houtkooper, R. H., Jakobs, M. E., Faber, D. R., de Vos, A. F., Wiersinga, W. J., Scicluna, B. P. & van der Poll, T., 1 Nov 2022, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1868, 11, 166519.

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome: International Journal of Molecular Sciences

    van der Laan, L., Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M. A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M. L., Vissers, L. E. L. M., Koene, S., Ruivenkamp, C., Hoffer, M. J. V., Wieczorek, D., Bramswig, N. C., Herget, T., González, V. L., & 15 othersSantos-Simarro, F., Tørring, P. M., Denomme-Pichon, A-S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P-Y., Misra-Isrie, M., Van Esch, H., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., Nov 2022

    Research output: Other contributionAcademic

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