Malou Heijligers

Research output

Research output per year 2018 2018 2019 2021 2023 2023

• 7 Article
• 1 Chapter
• 1 Editorial
• 1 Doctoral Thesis
• 1 More
  • 1 Preprint

Research output per year

Research output per year

Search results

• 2023

  All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

  Faas, B. H. W., Westra, D., de Munnik, S. A., van Rij, M., Marcelis, C., Joosten, S., Krapels, I., Vernimmen, V., Heijligers, M., Willemsen, M. H., de Leeuw, N., Rinne, T., Pfundt, R., Smeekens, S. P., Stegmann, S. P. A., Macville, M., Sikkel, E., Coumans, A., Wijnberger, L., Derks, I., & 6 othersvan Lent-Albrechts, J., Hofste, T., Timmermans, R., van den End, J., Stevens, S. J. C. & Feenstra, I., Apr 2023, In: Prenatal Diagnosis. 43, 4, p. 527-543 17 p.

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

  Open Access

• Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

  Wurfbain, L. F., Cox, I. L., van Dooren, M. F., Lachmeijer, A. M. A., Verhoeven, V. J. M., van Hagen, J. M., Heijligers, M., Wassink-Ruiter, J. S. K., Koene, S., Maas, S. M., Veenstra-Knol, H. E., van Amstel, J. K. P., Massink, M. P. G., van der Molen, A. B. M. & van den Boogaard, M-J. H., 1 Aug 2023, In: Molecular Syndromology. 14, 4, p. 270–282 13 p.

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

  Open Access
• 2022

  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 Oct 2022, In: Translational Psychiatry. 12, 1, 11 p., 421.

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

  Open Access
• 2021

  The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

  Lenaerts, L., Reynhout, S., Verbinnen, I., Laumonnier, F., Toutain, A., Bonnet-Brilhault, F., Hoorne, Y., Joss, S., Chassevent, A. K., Smith-Hicks, C., Loeys, B., Joset, P., Steindl, K., Rauch, A., Mehta, S. G., Chung, W. K., Devriendt, K., Holder, S. E., Jewett, T., Baldwin, L. M., & 32 othersWilson, W. G., Towner, S., Srivastava, S., Johnson, H. F., Daumer-Haas, C., Baethmann, M., Ruiz, A., Gabau, E., Jain, V., Varghese, V., Al-Beshri, A., Fulton, S., Wechsberg, O., Orenstein, N., Prescott, K., Childs, A-M., Faivre, L., Moutton, S., Sullivan, J. A., Shashi, V., Koudijs, S. M., Heijligers, M., Kivuva, E., McTague, A., Male, A., van Ierland, Y., Plecko, B., Maystadt, I., Hamid, R., Hannig, V. L., Houge, G. & Janssens, V., Feb 2021, In: Genetics in Medicine. 23, 2, p. 352-362 11 p.

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

  Open Access
• 2019

  Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis

  Heijligers, M., Peeters, A., van Montfoort, A., Nijsten, J., Janssen, E., Gunnewiek, F. K., de Rooy, R., van Golde, R., Coonen, E., Meijer-Hoogeveen, M., Broekmans, F., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Jun 2019, In: Fertility and Sterility. 111, 6, p. 1151-1158 8 p.

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

  Open Access
• 2018

  Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

  Heijligers, M., Van Montfoort, A., Meijer-Hoogeveen, M., Broekmans, F., Bouman, K., Homminga, I., Dreesen, J., Paulussen, A., Engelen, J., Coonen, E., Van der Schoot, V., van Deursen-Luijten, M., Muntjewerff, N., Peeters, A., van Golde, R., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Nov 2018, In: Journal of Assisted Reproduction and Genetics. 35, 11, p. 1995-2002 8 p.

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

  Open Access

• The cognitive and socio-emotional development of 5-year-old children born after PGD

  Heijligers, M., Verheijden, L. M. M., Jonkman, L. M., van der Sangen, M., Meijer-Hoogeveen, M., Arens, Y., van der Hoeven, M. A. & de Die-Smulders, C. E. M., Nov 2018, In: Human Reproduction. 33, 11, p. 2150–2157 8 p.

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

  Open Access

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