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  1. 2021

  2. Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing

    van de Burgt, N., van Koningsbruggen, S., Behrens, L., Leibold, N., Martinez-Martinez, P., Mannens, M. & van Amelsvoort, T., 1 Jun 2021, In: Journal of psychiatric research. 138, p. 125-129 5 p.

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

  3. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey

    ten Dam, L., de Visser, M., Ginjaar, I. B., van Duyvenvoorde, H. A., van Koningsbruggen, S. & van der Kooi, A. J., 2021, In: Journal of neuromuscular diseases. 8, 2, p. 261-272 12 p.

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

  4. Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)

    Verhoeven, D., Schonenberg-Meinema, D., Ebstein, F., Papendorf, J. J., Baars, P. A., van Leeuwen, E. M. M., Jansen, M. H., Lankester, A. C., van der Burg, M., Florquin, S., Maas, S. M., van Koningsbruggen, S., Krüger, E., van den Berg, J. M. & Kuijpers, T. W., 2021, (E-pub ahead of print) In: Journal of allergy and clinical immunology.

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

  5. 2020

  6. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

    Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., de Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A., Geneviève, D., & 31 othersGuillen Sacoto, M. J., Guimier, A., Harris, D. J., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Koshimizu, E., Lichtenbelt, K., Loik Ramey, V., Maik, M., Miyakate, S., Murakami, Y., Pasquier, L., Pedro, H., Simone, L., Sondergaard-Schatz, K., St-Onge, J., Thevenon, J., Valenzuela, I., Abou Jamra, R., van Gassen, K., van Haelst, M. M., van Koningsbruggen, S., Verdura, E., Whelan Habela, C., Zacher, P., Rivière, J-B., Thauvin-Robinet, C., Betschinger, J. & Faivre, L., 1 Dec 2020, In: Journal of medical genetics. 57, 12, p. 808-819 12 p., 106508.

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

  7. 2019

  8. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

    Rahikkala, E., Myllykoski, M., Hinttala, R., Vieira, P. I., Nayebzadeh, N., Weiss, S., Plomp, A. S., Bittner, R. E., Kurki, M. I., Kuismin, O., Lewis, A. M., Väisänen, M-L., Kokkonen, H., Westermann, J., Bernert, G. N., Tuominen, H., Palotie, A., Aaltonen, L., Yang, Y., Potocki, L., & 6 othersMoilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., Oct 2019, In: Genetics in medicine. 21, 10, p. 2355-2363

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

  9. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

    Villegas, F., Lehalle, D., Mayer, D., Rittirsch, M., Stadler, M. B., Zinner, M., Olivieri, D., Vabres, P., Duplomb-Jego, L., De Bont, E. S. J. M., Duffourd, Y., Duijkers, F., Avila, M., Geneviève, D., Houcinat, N., Jouan, T., Kuentz, P., Lichtenbelt, K. D., Thauvin-Robinet, C., St-Onge, J., & 9 othersThevenon, J., van Gassen, K. L. I., van Haelst, M., van Koningsbruggen, S., Hess, D., Smallwood, S. A., Rivière, J-B., Faivre, L. & Betschinger, J., 7 Feb 2019, In: Cell stem cell. 24, 2, p. 257-270.e8

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

  10. Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid

    Lubout, C. M. A., Goorden, S. M. I., van den Hurk, K., Jaeger, B., Jager, N. G. L., van Koningsbruggen, S., Chegary, M. & van Karnebeek, C. D. M., Jan 2019, In: Pediatric neurology. 102, p. 62-66

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

  11. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Deciphering Developmental Disorders (DDD) Study, O'Donnell-Luria, A. H., Pais, L. S., Faundes, V. C., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., Bianchini, C., Bird, L. M., Buchert, R., Carre, W., Ceulemans, S., Charles, P., Cox, H., & 34 othersCulliton, L., Currò, A., McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., Ambridge, K., Barrett, D. M., Bayzetinova, T., Jones, P., Jones, W. D., King, D., Krishnappa, N., Mason, L. E., Singh, T., Tivey, A. R., Ahmed, M., Anjum, U., Archer, H., Armstrong, R., Awada, J., Balasubramanian, M., Banka, S., Maas, S. M., van Koningsbruggen, S., Baxter, S., Banka, S. & Rodan, L. H., 2019, In: American journal of human genetics. 104, 6, p. 1210-1222

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

  12. HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

    Duijkers, F. A., McDonald, A., Janssens, G. E., Lezzerini, M., Jongejan, A., van Koningsbruggen, S., Leeuwenburgh-Pronk, W. G., Wlodarski, M. W., Moutton, S. B., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Monaghan, K. G., Smol, T., Boute-Benejean, O., Ladda, R. L., Sell, S. L., Bruel, A-L., Houtkooper, R. H. & MacInnes, A. W., 2019, In: American journal of human genetics. 104, 6, p. 1040-1059 20 p.

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

  13. 2018

  14. An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

    Ferrer, C. M., Alders, M., Postma, A. V., Park, S., Klein, M. A., Cetinbas, M., Pajkrt, E., Glas, A., van Koningsbruggen, S., Christoffels, V. M., Mannens, M. M. A. M., Knegt, L., Etchegaray, J-P., Sadreyev, R. I., Denu, J. M., Mostoslavsky, G., van Maarle, M. C. & Mostoslavsky, R., 2018, In: Genes & development. 32, 5-6, p. 373-388

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

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