Willem Verhoeven

Search results

• 2025

  X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability

  Verhoeven, W. M. A., Pfundt, R., Engelke, U. F. H., Kluijtmans, L. A. J. & Egger, J. I. M., 18 Jan 2025, In: International Medical Case Reports Journal. 18, p. 111-116 6 p.

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

  Open Access

  File

  • Autism 100%
  • Oxygenase 100%
  • Intellectual and Developmental Disabilities 100%
  • Mental Retardation 100%
  • Hemizygote 100%
  4 Downloads (Pure)
• 2022

  Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient

  Verhoeven, W., Zuijdam, J., Scheick, A., Zwemer, A. S., Pfundt, R., Egger, J. & van Nieuwenhuijsen, F., 21 Sept 2022, In: International Medical Case Reports Journal. 15, p. 753-759 7 p.

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

  Open Access

  File

  • Intellectual Disability 100%
  • Exome Sequencing 100%
  • Atonic Seizure 100%
  • Intellectual and Developmental Disabilities 66%
  • Autism 66%
  3 Citations (Scopus)

  47 Downloads (Pure)

• A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype

  Verhoeven, W. M. A., Egger, J. I. M., Mergler, S., Meijer, T. A. A., Pfundt, R. & Willemsen, M. H., 10 Mar 2022, In: International Journal of General Medicine. 15, p. 2799-2806 8 p.

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

  Open Access

  File

  • Karyotype 100%
  • Intellectual and Developmental Disabilities 100%
  • Mental Retardation 100%
  • Genetics 100%
  • Somatics 50%
  2 Citations (Scopus)

  39 Downloads (Pure)
• 2020

  A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

  Verhoeven, W., Egger, J., Jongbloed, R., van Putten, M., de Bruijn-van Zandwijk, M., Zwemer, A., Pfundt, R. & Willemsen, M., 2020, In: International Medical Case Reports Journal. 13, p. 487-492 6 p.

  Research output: Contribution to journal › Article › Academic

  Open Access

  File
  13 Citations (Scopus)

  27 Downloads (Pure)

• Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene

  Verhoeven, W., Egger, J., Janssen, P. & van Haeringen, A., 2020, In: BMJ Case Reports. 13, 12, 235972.

  Research output: Contribution to journal › Article › Academic

  Open Access
  7 Citations (Scopus)

• A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome

  Verhoeven, W., Egger, J. & de Leeuw, N., 2020, In: European Journal of Medical Genetics. 63, 3, 103751.

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

• Neurosyphilis mimicking autoimmune encephalitis: A case report and review of the literature

  Ouwens, I., Fiolet, A., Thijs, R., Koehler, P. & Verhoeven, W., 2020, In: Clinical Neuropsychiatry. 17, 3, p. 175-180 6 p.

  Research output: Contribution to journal › Article › Academic

  Open Access

  File
  3 Citations (Scopus)

  20 Downloads (Pure)
• 2019

  A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

  Verhoeven, W., Egger, J., Kipp, J., de Wiel, J., Ockeloen, C., Kleefstra, T. & Pfundt, R., 2019, In: Molecular genetics & genomic medicine. UNSP e849.

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

  Open Access

  File
  8 Citations (Scopus)

  12 Downloads (Pure)

• CLINICAL PRESENTATION OF LABORATORY CONFIRMED NEUROSYPHILIS IN A RECENT CASES SERIES

  Ouwens, M., Ott, A., Fiolet, A., Koehler, P., Vos, M., Oldhoff, J. & Verhoeven, W., 2019, In: Clinical Neuropsychiatry. 16, 1, p. 17-24 8 p.

  Research output: Contribution to journal › Article › Academic
  4 Citations (Scopus)
• 2018

  Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

  Verhoeven, W., Egger, J., Rakers, E., van Erkelens, A., Pfundt, R. & Willemsen, M., 2018, In: Neuropsychiatric Disease and Treatment. 14, p. 867-870 4 p.

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

• RELEVANCE OF DELETION BREAKPOINT SPECIFICATION IN 22q11.2 DELETION SYNDROME: CLINICAL MANAGEMENT OF THREE ILLUSTRATIVE PATIENTS

  Verhoeven, W., Egger, J. & de Leeuw, N., 2018, In: Clinical Neuropsychiatry. 15, 5, p. 306-310 5 p.

  Research output: Contribution to journal › Article › Academic
  2 Citations (Scopus)
• 2017

  Drie patiënten met langdurig onopgehelderde psychiatrische klachten waarbij genetische diagnostiek uitkomst bracht

  Verhoeven, W., Egger, J., Kleefstra, T. & de Leeuw, N., 2017, In: Tijdschrift voor Psychiatrie. 59, 7, p. 433-437 5 p.

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

• Malaria Fever Therapy for General Paralysis of the Insane: A Historical Cohort Study

  Ouwens, M., Lens, C., Fiolet, A., Ott, A., Koehler, P. J., Kager, P. & Verhoeven, W., 2017, In: European Neurology. 78, 1-2, p. 56-62 7 p.

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

• Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium

  Egger, J., Verhoeven, W., Groenendijk-Reijenga, R. & Kant, S., 2017, In: BMJ Case Reports.

  Research output: Contribution to journal › Article › Academic
  35 Citations (Scopus)

• TREATMENT CONTINGENT UPON ETIOLOGY: TWO ADULT FEMALE PATIENTS WITH MILD INTELLECTUAL DISABILITY AND A CAUSATIVE COPY NUMBER VARIATION

  Verhoeven, W., Egger, J., de Leeuw, N. & Kleefstra, T., 2017, In: Clinical Neuropsychiatry. 14, 2, p. 135-140 6 p.

  Research output: Contribution to journal › Article › Academic
• 2016

  Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2

  Verhoeven, W., Egger, J., Knegt, A., Zuydam, J. & Kleefstra, T., 2016, In: Neuropsychiatric Disease and Treatment. 12, p. 1135-1139 5 p.

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

  Open Access

  File
  15 Citations (Scopus)

  17 Downloads (Pure)

• Cycloid psychoses in the psychosis spectrum: evidence for biochemical differences with schizophrenia

  Kerkhof, N., Fekkes, D., van der Heijden, F., Hoogendijk, W., Stober, G., Egger, J. & Verhoeven, W., 2016, In: Neuropsychiatric Disease and Treatment. 12, p. 1927-1933 7 p.

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

• Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy

  Egger, J., Zwanenburg, R., van Ravenswaaij-Arts, C., Kleefstra, T. & Verhoeven, W., 2016, In: Genes Brain and Behavior. 15, 4, p. 395-404 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  35 Citations (Scopus)
• 2015

  A 12Q24.31 Interstitial Deletion in an Adult Male With MODY3: Neuropsychiatric and Neuropsychological Characteristics

  Verhoeven, W., Egger, J., van den Bergh, J., van Beek, R., Kleefstra, T. & de Leeuw, N., 2015, In: American Journal of Medical Genetics Part A. 167, 1, p. 169-173 5 p.

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

• Atypical Antipsychotics and Relapsing Psychoses in 22q11.2 Deletion Syndrome: A Long-term Evaluation of 28 Patients

  Verhoeven, W. & Egger, J., 2015, In: Pharmacopsychiatry. 48, 3, p. 104-110 7 p.

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

• Clinical Presentation of General Paralysis of the Insane in a Dutch Psychiatric Hospital, 1924-1954

  Ouwens, I., Lens, C., Fiolet, A., Ott, A., Koehler, P. & Verhoeven, W., 2015, In: European Neurology. 74, 1-2, p. 54-59 6 p.

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

• Glycosylated hemoglobin as a screening test for hyperglycemia in antipsychotic-treated patients: a follow-up study

  Steylen, P., van der Heijden, F., Hoogendijk, W. & Verhoeven, W., 2015, In: Diabetes, Metabolic Syndrome and Obesity. 8, p. 57-63 7 p.

  Research output: Contribution to journal › Article › Academic

  Open Access

  File
  11 Citations (Scopus)

  21 Downloads (Pure)

• Relationship between Plasma Homovanillic Acid and Outcome in Patients with Psychosis Spectrum Disorders

  Kerkhof, N., Fekkes, D., van der Heijden, F., Egger, J. & Verhoeven, W., 2015, In: Neuropsychobiology. 71, 4, p. 212-217 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  5 Citations (Scopus)
• 2014

  BDNF and S100B in psychotic disorders: evidence for an association with treatment responsiveness

  Kerkhof, N., Fekkes, D., van der Heijden, F. & Verhoeven, W., 2014, In: Acta Neuropsychiatrica. 26, 4, p. 223-229 7 p.

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

• Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients

  Verhoeven, W., Egger, J., Koolen, D., Yntema, H., Olgiati, S., Breedveld, G., Bonifati, V. & van de Warrenburg, B., 2014, In: Parkinsonism & Related Disorders. 20, 3, p. 332-336 5 p.

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

• Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

  Egger, J., Verhoeven, W., Verbeeck, W. & de Leeuw, N., 2014, In: Neuropsychiatric Disease and Treatment. 10, p. 513-517 5 p.

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

  Kallmann syndrome and paranoid schizophrenia:

  Verhoeven, W., Egger, J., Hovens, J. & Hoefsloot, L., 16 Jan 2013, In: BMJ Case Reports.

  Research output: Contribution to journal › Article › Academic
  10 Citations (Scopus)

• Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion

  Verhoeven, W., Egger, J., Goffin, L., van Zutven, L. & Verheijen - Mancini, G., 2013, In: European Journal of Medical Genetics. 56, p. 331-335 5 p.

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

• Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

  Egger, J., Wingbermuhle, E., Verhoeven, W., Dijkman, M., Radke, S., de Bruijn, E., de Vries, B., Kessels, R. & Koolen, D., 2013, In: American Journal of Medical Genetics Part A. 161A, 1, p. 21-26 6 p.

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

• Neuropsychiatric Adverse Events of Varenicline A Systematic Review of Published Reports

  Ahmed, A., Ali, A., Kramers, C., Harmark, L., Burger, D. & Verhoeven, W., 2013, In: Journal of Clinical Psychopharmacology. 33, 1, p. 55-62 8 p.

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

• Phelan-McDermid syndrome: Clinical report of a 70-year-old woman

  Verhoeven, W., Egger, J., Cohen-Snuijf, R., Kant, S. & de Leeuw, N., 2013, In: American Journal of Medical Genetics Part A. 161A, 1, p. 158-161 4 p.

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

• Topklinische neuropsychiatrie: een succesvolle interdisciplinaire benadering

  Verhoeven, W., Egger, J., Wingerbermuhle, E. & Schneider, M., 2013, In: Tijdschrift voor Psychiatrie. 55, p. 733-742 10 p.

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

  2 Citations (Scopus)
• 2012

  A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

  Verhoeven, W., Egger, J., Feenstra, I. & de Leeuw, N., 2012, In: European Journal of Medical Genetics. 55, 5, p. 358-361 4 p.

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

• Affective functioning and social cognition in Noonan syndrome

  Wingbermuhle, E., Egger, J., Verhoeven, W., van der Burgt, I. & Kessels, R., 2012, In: Psychological Medicine. 42, 2, p. 419-426 8 p.

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

• Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of Two Male Sibs

  Verhoeven, W., Egger, J., Ahmed, A., Kremer, B., Vermeer, S. & van de Warrenburg, B., 2012, In: Psychopathology. 45, 3, p. 193-199 7 p.

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

• Cognitive functioning of adults with Noonan syndrome: a case-control study

  Wingbermuhle, E., Roelofs, R., van der Burgt, I., Souren, P., Verhoeven, W., Kessels, R. & Egger, J., 2012, In: Genes Brain and Behavior. 11, 7, p. 785-793 9 p.

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

• Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

  Kerkhof, N., Feenstra, I., van der Heijden, F., de Leeuw, N., Pfundt, R., Stober, G., Egger, J. & Verhoeven, W., 2012, In: Neuropsychiatric Disease and Treatment. 8, p. 295-300 6 p.

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

  Open Access

  File
  2 Citations (Scopus)

  10 Downloads (Pure)

• Cycloid psychoses: Leonhard's descriptions revisited

  Kerkhof, N., van der Heijden, F., Schneider, M., Pfuhlmann, B., Stober, G., Egger, J. & Verhoeven, W., 2012, In: European Journal of Psychiatry. 26, 4, p. 266-278 13 p.

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

  5 Citations (Scopus)

• Metabolic syndrome in relation to psychotropic polypharmacy

  Steylen, P., van der Heijden, F., Kok, H., Sijben, N. & Verhoeven, W., 2012, In: Clinical Neuropsychiatry. 9, 2, p. 75-83 9 p.

  Research output: Contribution to journal › Article › Academic

  4 Citations (Scopus)

• Neuropsychologische kenmerken van het Noonansyndroom

  Wingbermühle, E., Egger, J., Verhoeven, W. & van der Burgt, I., 2012, In: NeuroPraxis. 16, 2, p. 46-52 7 p.

  Research output: Contribution to journal › Article › Professional

• Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

  Verhoeven, W., Egger, J., Willemsen, M., de Leijer, G. & Kleefstra, T., 2012, In: Neuropsychiatric Disease and Treatment. 8, p. 175-179 5 p.

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

  Open Access

  File
  51 Citations (Scopus)

  33 Downloads (Pure)

• The neurocognition of alexithymia: evidence from neuropsychological and neuroimaging studies

  Wingbermuhle, E., Theunissen, H., Verhoeven, W., Kessels, R. & Egger, J., 2012, In: Acta Neuropsychiatrica. 24, 2, p. 67-80 14 p.

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

• X-LINKED AARSKOG SYNDROME: REPORT ON A NOVEL FGD1 GENE MUTATION. EXECUTIVE DYSFUNCTION AS PART OF THE BEHAVIOURAL PHENOTYPE

  Verhoeven, W., Egger, J. & Hoogeboom, J., 2012, In: Genetic Counseling. 23, 2, p. 157-167 11 p.

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

  12 Citations (Scopus)
• 2011

  A Patient With a De Novo Distal 22q11.2 Microdeletion and Anxiety Disorder

  Verhoeven, W., Egger, J., Brunner, H. & de Leeuw, N., 2011, In: American Journal of Medical Genetics Part A. 155A, 2, p. 392-397 6 p.

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

• Effects of Long-Acting Methylphenidate in Adults with Attention Deficit Hyperactivity Disorder: A Study with Paired-Pulse Transcranial Magnetic Stimulation

  Schneider, M., Retz, W., Gougleris, G., Verhoeven, W., Tulen, J. & Rosler, M., 2011, In: Neuropsychobiology. 64, 4, p. 195-201 7 p.

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

• Genetic disorders and the autism spectrum

  Verhoeven, W., Egger, J. & Feenstra, I., 2011, In: Clinical Neuropsychiatry. 8, p. 219-224 6 p.

  Research output: Contribution to journal › Article › Academic

  4 Citations (Scopus)

• Kleefstra Syndrome in Three Adult Patients: Further Delineation of the Behavioral and Neurological Phenotype Shows Aspects of a Neurodegenerative Course

  Verhoeven, W., Egger, J., Vermeulen, K., van de Warrenburg, B. & Kleefstra, T., 2011, In: American Journal of Medical Genetics Part A. 155A, 10, p. 2409-2415 7 p.

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

• Manganese and acute paranoid psychosis: a case report

  Verhoeven, W., Egger, J. & Kuipers, H., 2011, In: Journal of Medical Case Reports. 5, p. 146

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

  Open Access

  File
  26 Citations (Scopus)

  20 Downloads (Pure)

• Psychomotor psychoses : The enigmatic catatonic phenotype

  Verhoeven, W., van der Heijden, F., Pfuhlmann, B. & Stober, G., 2011, In: European Psychiatric Review. 4, p. 78-83 6 p.

  Research output: Contribution to journal › Article › Academic

• Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

  Verhoeven, W., Egger, J., Kremer, B., de Pont, B. & Marcelis, C., 2011, In: Neuropsychiatric Disease and Treatment. 7, p. 293-296 4 p.

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

  Open Access

  File
  12 Citations (Scopus)

  20 Downloads (Pure)