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  1. 2023

  2. Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review

    von Scheibler, E. N. M. M., van Eeghen, A. M., de Koning, T. J., Kuijf, M. L., Zinkstok, J. R., Müller, A. R., van Amelsvoort, T. A. M. J. & Boot, E., Jan 2023, In: Movement Disorders Clinical Practice. 10, 1, p. 17-31 15 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

  3. 2022

  4. The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review

    Vanclooster, S., Bissell, S., van Eeghen, A. M., Chambers, N., de Waele, L., Byars, A. W., Capal, J. K., Cukier, S., Davis, P., Flinn, J., Gardner-Lubbe, S., Gipson, T., Heunis, T-M., Hook, D., Kingswood, J. C., Krueger, D. A., Kumm, A. J., Sahin, M., Schoeters, E., Smith, C., & 5 othersSrivastava, S., Takei, M., Waltereit, R., Jansen, A. C. & de Vries, P. J., Dec 2022, In: Journal of neurodevelopmental disorders. 14, 1, p. 13 13.

    Research output: Contribution to journal › Review article › Academic › peer-review

  5. Post-traumatic stress in adults with 22q11.2 deletion syndrome

    von Scheibler, E. N. M. M., van Amelsvoort, T. A. M. J., Vingerhoets, C., van Eeghen, A. M. & Boot, E., 7 Jul 2022, In: BJPsych open. 8, 4, e126.

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

  6. Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)

    Heunis, T-M., Bissell, S., Byars, A. W., Capal, J. K., Chambers, N., Cukier, S., Davis, P. E., de Waele, L., Flinn, J., Gardner-Lubbe, S., Gipson, T., Kingswood, J. C., Krueger, D. A., Kumm, A. J., Sahin, M., Schoeters, E., Smith, C., Srivastava, S., Takei, M., Vanclooster, S., & 4 othersvan Eeghen, A. M., Waltereit, R., Jansen, A. C. & de Vries, P. J., 28 Feb 2022, In: Frontiers in psychiatry. 13, 834628.

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

  7. Personalized medicine for rare neurogenetic disorders: can we make it happen?

    van Eeghen, A. M., Bruining, H., Wolf, N. I., Bergen, A. A., Houtkooper, R. H., van Haelst, M. M. & van Karnebeek, C. D., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006200.

    Research output: Contribution to journal › Review article › Academic › peer-review

  8. Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

    von Scheibler, E. N. M. M., van der Valk Bouman, E. S., Nuijts, M. A., Bauer, N. J. C., Berendschot, T. T. J. M., Vermeltfoort, P., Bok, L. A., van Eeghen, A. M., Houben, M. L., van Amelsvoort, T. A. M. J., Boot, E. & van Egmond-Ebbeling, M. B., Feb 2022, In: American journal of medical genetics. Part A. 188, 2, p. 569-578 10 p.

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

  9. 2021

  10. Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

    Müller, A. R., Zinkstok, J. R., Rommelse, N. N. J., van de Ven, P. M., Roes, K. C. B., Wijburg, F. A., de Rooij-Askes, E., Linders, C., Boot, E. & van Eeghen, A. M., 1 Dec 2021, In: Orphanet journal of rare diseases. 16, 1, 380.

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

  11. What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications: Five years of ‘internal medicine for rare genetic syndromes’

    Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt-Mouravieva, A. A., Kersseboom, R., Bos-Roubos, A. G., van Eeghen, A., Veen, J. M. C., van der Meulen, J. J., van Aalst-van Wieringen, N., Hoekstra, F. M. E., van der Lely, A. J. & de Graaff, L. C. G., 1 Nov 2021, In: Journal of clinical medicine. 10, 22, 5457.

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

  12. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

    International Tuberous Sclerosis Complex Consensus Group, 1 Oct 2021, In: Pediatric neurology. 123, p. 50-66 17 p.

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

  13. Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

    Boot, E., Linders, C. C., Tromp, S. H., van den Boogaard, M-J. & van Eeghen, A. M., Oct 2021, In: American journal of medical genetics. Part A. 185, 10, p. 3167-3169 3 p.

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

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