Agnies van Eeghen

22PUBLICATIONS
79CO-AUTHORS
Infant and child healthNeurology and neuromuscular diseasesCancer geneticsMultimorbidityEpigenetics (incl. genome methylation and epigenomics)
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Publications (22)

|Aug 09, 2026
Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.

|Jul 11, 2026
Co-Creation of the EpiCom Clinical Trial: Bringing the Tuberous Sclerosis Complex Patient Community, Healthcare Professionals, and the Pharmaceutical Industry Together.

|May 05, 2026
Closing the Gap to Interventions for Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): Protocol for a Longitudinal Study of TAND Severity, Predictors, and Caregiver Well-Being (TANDem-2).

|Mar 30, 2026
Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury.

Hadassa Kwetsie, Inge M W Verberk, Jans S van Ool

|Mar 06, 2026
Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.

Mirthe J Klein Haneveld, Louise Cox, Petri J C M Embregts

|Oct 21, 2025
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

Claudio Peter D'Incal, Bram Dierckx, Claudia Vingerhoets

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Frequent Collaborators

7 joint publications

Erik Boot

4 joint publications

Emma N M M von Scheibler

4 joint publications

Anna C Jansen

4 joint publications

Thérèse A M J van Amelsvoort