Agnies Marguerite van Eeghen

Research output

Research output per year 1999 2013 2019 2021 2023 2024

• 39 Article
• 9 Review article
• 5 Comment/Letter to the editor
• 2 Chapter
• 5 More
  • 2 Abstract
  • 2 Meeting Abstract
  • 1 Letter

Research output per year

Research output per year

Search results

• 2024

  Accessibility and feasibility of experience sampling methods for mental health research with people with intellectual disability: Scoping of research and stakeholder views: Scoping of research and stakeholder views

  Bakkum, L., Paalman, C., Müller, A., Eeghen, A. V. & Schuengel, C., Jan 2024, In: JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES. 37, 2, e13190.

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

  Open Access

• Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

  Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., Ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G. & van Eeghen, A. M., 1 Dec 2024, In: BMC psychiatry. 24, 1, p. 23 23.

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

  Open Access
• 2023

  Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

  ERN ITHACA Guideline Working Group & European Phelan-McDermid syndrome guideline consortium, 1 Jul 2023, In: European journal of medical genetics. 66, 7, 104747.

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

  Open Access
  1 Citation (Scopus)

• Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)

  Heunis, T-M., Chambers, N., Vanclooster, S., Bissell, S., Byars, A. W., Capal, J. K., Cukier, S., Davis, P. E., de Vries, M. C., 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., & 5 othersTakei, M., van Eeghen, A. M., Waltereit, R., Jansen, A. C. & de Vries, P. J., 1 Oct 2023, In: Pediatric neurology. 147, p. 101-123 23 p.

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

  Open Access
  1 Citation (Scopus)

• Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.

  den Hollander, B., Rothuizen-Lindenschot, M., Geertjens, L., Vaz, F. M., Brands, M. M., le, H. L., van Eeghen, A. M., van de Ven, P. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H. & van Karnebeek, C. D., 1 Dec 2023, In: Contemporary Clinical Trials Communications. 36, p. 101233 101233.

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

  Open Access

• Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

  von Scheibler, E. N. M. M., Widdershoven, J. C. C., van Barneveld, D. C. P. B. M., Schröder, N., van Eeghen, A. M., van Amelsvoort, T. A. M. J. & Boot, E., 2023, (E-pub ahead of print) In: American Journal of Medical Genetics, Part A.

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

  Open Access

• Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

  Linders, C. C., van Eeghen, A. M., Zinkstok, J. R., van den Boogaard, M-J. & Boot, E., 1 Aug 2023, In: Genes. 14, 8, 1514.

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

  Open Access

• International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

  de Vries, P. J., Heunis, T-M., Vanclooster, S., Chambers, N., Bissell, S., Byars, A. W., Flinn, J., Gipson, T. T., van Eeghen, A. M., Waltereit, R., Capal, J. K., Cukier, S., Davis, P. E., Smith, C., Kingswood, J. C., Schoeters, E., Srivastava, S., Takei, M., Gardner-Lubbe, S., Kumm, A. J., & 4 othersKrueger, D. A., Sahin, M., de Waele, L. & Jansen, A. C., 1 Dec 2023, In: Journal of neurodevelopmental disorders. 15, 1, 32.

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

  Open Access

• Optometry in adults with microdeletion 22q11.2: The eye as a window to the brain

  von Scheibler, E. N. M. M., Appaji, A., Berendschot, T. T. J. M., Bauer, N. J. C., Rao, N. P., van Eeghen, A. M., van Amelsvoort, T. A. M. J. & Boot, E., 1 Dec 2023, In: Biomarkers in Neuropsychiatry. 9, 100081.

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

  Open Access

• Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

  Müller, A. R., Luijten, M. A. J., Haverman, L., de Ranitz-Greven, W. L., Janssens, P., Rietman, A. B., ten Hoopen, L. W., de Graaff, L. C. G., de Wit, M-C., Jansen, A. C., Gipson, T., Capal, J. K., de Vries, P. J. & van Eeghen, A. M., 1 Dec 2023, In: BMC medicine. 21, 1, 298.

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

  Open Access
  3 Citations (Scopus)
• 2022

  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

  Open Access
  4 Citations (Scopus)

• 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

  Open Access
  5 Citations (Scopus)

• 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

  Open Access
  1 Citation (Scopus)
• 2021

  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

  Open Access
  5 Citations (Scopus)

• 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

  Open Access
  227 Citations (Scopus)

• 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: Clinical Chemistry. 10, 22, 5457.

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

  Open Access
  6 Citations (Scopus)
• 2020

  Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

  Van Remmerden, M. C., Hoogland, L., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R. & Van Eeghen, A. M., 1 Jun 2020, In: Journal of Autism and Developmental Disorders. 50, 6, p. 2174-2187 14 p.

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

  Open Access
  10 Citations (Scopus)
• 2019

  Integrale zorg voor kinderen met een verstandelijke beperking: samen met de AVG: samen met de AVG

  van Eeghen, A. M. & Huisman, S., 2019, In: Praktische pediatrie. 1, p. 12-19

  Research output: Contribution to journal › Article › Professional

• Somatische comorbiditeit bij kinderen en volwassenen met een verstandelijke beperking en een psychiatrische aandoening

  van Eeghen, A. M., Huisman, S. A., van Goethem, G. & Boot, E., 2019, In: Tijdschrift voor Psychiatrie. 6, 11, p. 773-778

  Research output: Contribution to journal › Article › Professional

  Open Access
  3 Citations (Scopus)

• Somatische problemen bij mensen met een verstandelijke beperking in de psychiatrische praktijk

  van Eeghen, AM., Sylvia, S. A. & Boot, E., 2019, (Accepted/In press) In: Tijdschrift voor Psychiatrie.

  Research output: Contribution to journal › Article › Professional
• 2018

  Fragiele-X-syndroom: Nieuwe therapeutische strategieën

  Translated title of the contribution: Fragile X syndrome: New therapeutic strategiesZeidler, S., Dierckx, B., Lubbers, K., van Eeghen, AM., Lincke, C. R., Kievit, J. A., Willemsen, R. & Rietman, A. B., 1 May 2018, In: Tijdschrift voor Psychiatrie. p. 338-442

  Research output: Contribution to journal › Article › Professional

• Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood: Concerns and needs of patients and parents from the transitional period to adulthood

  Both, P., Ten Holt, L., Mous, S., Patist, J., Rietman, A., Dieleman, G., Ten Hoopen, L., Vergeer, M., de Wit, M-C., Bindels-de Heus, K., Moll, H. & van Eeghen, A., 1 Jun 2018, In: Epilepsy & Behavior. 83, p. 13-21 9 p.

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

• Worries and needs of adults and parents of adults with neurofibromatosis type 1

  Rietman, A. B., van Helden, H., Both, P. H., Taal, W., Legerstee, J. S., van Staa, A., Moll, H. A., Oostenbrink, R. & van Eeghen, A. M., 1 May 2018, In: American journal of medical genetics. Part A. 176, 5, p. 1150-1160 11 p.

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

  Open Access
  26 Citations (Scopus)
• 2016

  Genotype and brain pathology phenotype in children with tuberous sclerosis complex

  Overwater, I. E., Swenker, R., van der Ende, E. L., Hanemaayer, K. B., Hoogeveen-Westerveld, M., van Eeghen, A. M., Lequin, M. H., van den Ouweland, A. M., Moll, H. A., Nellist, M. & de Wit, M-C. Y., Dec 2016, In: European journal of human genetics. 24, 12, p. 1688-1695 8 p.

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

  Open Access
  29 Citations (Scopus)
• 2014

  Arachnoid cysts in tuberous sclerosis complex

  Boronat, S., Caruso, P., Auladell, M., Van Eeghen, A. & Thiele, E. A., Oct 2014, In: Brain & development. 36, 9, p. 801-6 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  13 Citations (Scopus)
• 2013

  Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

  van Eeghen, A. M., Nellist, M., van Eeghen, E. E. & Thiele, E. A., Jan 2013, In: Epilepsy Research. 103, 1, p. 83-7 5 p.

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

• Clobazam therapy of refractory epilepsy in tuberous sclerosis complex

  Jennesson, M., van Eeghen, A. M., Caruso, P. A., Paolini, J. L. & Thiele, E. A., May 2013, In: Epilepsy Research. 104, 3, p. 269-74 6 p.

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

• Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions

  Peters, J. M., Taquet, M., Prohl, A. K., Scherrer, B., van Eeghen, A. M., Prabhu, S. P., Sahin, M. & Warfield, S. K., Sept 2013, In: Future neurology. 8, 5, p. 583-597 15 p.

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

• Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex

  Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Mayer, K., Lannoy, N., Elmslie, F., Bebin, M., Dies, K., Thompson, C., Sparagana, S. P., Davies, P., van Eeghen, A. M., Thiele, E. A., van den Ouweland, A., Halley, D. & Nellist, M., Jan 2013, In: Human mutation. 34, 1, p. 167-75 9 p.

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

• Stressor-related disorders in tuberous sclerosis

  Boronat, S., van Eeghen, A. M., Shinnick, J. E., Newberry, P. & Thiele, E. A., Nov 2013, In: Annals of Clinical Psychiatry. 25, 4, p. 243-249 7 p.

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

  3 Citations (Scopus)

• The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

  van Eeghen, A. M., Terán, L. O., Johnson, J., Pulsifer, M. B., Thiele, E. A. & Caruso, P., Aug 2013, In: Neuroradiology. 55, 8, p. 1007-1014 8 p.

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

• Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach

  van Eeghen, A. M., Pulsifer, M. B., Merker, V. L., Neumeyer, A. M., van Eeghen, E. E., Thibert, R. L., Cole, A. J., Leigh, F. A., Plotkin, S. R. & Thiele, E. A., Feb 2013, In: Developmental Medicine and Child Neurology. 55, 2, p. 146-53 8 p.

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

  Open Access
  85 Citations (Scopus)
• 2012

  Cognitive and adaptive development of patients with tuberous sclerosis complex: a retrospective, longitudinal investigation

  van Eeghen, A. M., Chu-Shore, C. J., Pulsifer, M. B., Camposano, S. E. & Thiele, E. A., Jan 2012, In: Epilepsy & Behavior. 23, 1, p. 10-5 6 p.

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

• Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

  Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Karbassi, I., Batish, S. D., den Dunnen, J. T., van Eeghen, A., Thiele, E., Mayer, K., Dies, K., Wen, L., Thompson, C., Sparagana, S. P., Davies, P., Aalfs, C., van den Ouweland, A., Halley, D. & Nellist, M., 2012, In: Human mutation. 33, 3, p. 476-479

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

• Genotype and cognitive phenotype of patients with tuberous sclerosis complex

  van Eeghen, A. M., Black, M. E., Pulsifer, M. B., Kwiatkowski, D. J. & Thiele, E. A., May 2012, In: European journal of human genetics. 20, 5, p. 510-5 6 p.

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

  Open Access
  84 Citations (Scopus)
• 2011

  Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review

  van Eeghen, A. M., Numis, A. I., Staley, B. A., Therrien, S. E., Thibert, R. L. & Thiele, E. A., Jan 2011, In: Epilepsy & Behavior. 20, 1, p. 68-74 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  31 Citations (Scopus)
• 2003

  Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1

  Wallerman, O., Van Eeghen, A., Ten Kate, L. P. & Wadelius, C., 2003, In: Hereditas. 139, 1, p. 64-7 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  5 Citations (Scopus)
• 2002

  An aetiological study of 25 mentally retarded adults with autism

  van Karnebeek, C. D. M., van Gelderen, I., Nijhof, G. J., Abeling, N. G., Vreken, P., Redeker, E. J., van Eeghen, A. M., Hoovers, J. M. N. & Hennekam, R. C. M., 2002, In: Journal of medical genetics. 39, 3, p. 205-214

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

  Open Access
  24 Citations (Scopus)
• 1999

  Costello syndrome: Report and review

  van Eeghen, A. M., van Gelderen, I. & Hennekam, R. C. M., 1999, In: American journal of medical genetics. 82, 2, p. 187-193

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