R F. Kooy
Antwerpen, VLG 2000, Belgium
Last Updated: 09/26/2026
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Found 85 publications
Polymorphic CGG repeats in gene regulation and disease.
Journal: American journal of human genetics
Published: October 14, 2025
CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats.
Journal: BMC genomics
Published: July 29, 2025
An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.
Journal: EBioMedicine
Published: July 15, 2025
ADNP Exhibits Methyltransferase Activity in Overexpression Systems and Modulates DNA and Histone Methylation.
Journal: Autism research : official journal of the International Society for Autism Research
Published: July 01, 2025
An NGS-based approach for precise and footprint-free CRISPR-based gene editing in human stem cells.
Journal: Methods (San Diego, Calif.)
Published: March 19, 2025
From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.
Journal: Biomedicines
Published: February 21, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.
Journal: Clinical genetics
Published: December 06, 2024
C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.
Journal: bioRxiv : the preprint server for biology
Published: November 21, 2024
C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.
Journal: NAR molecular medicine
Published: November 04, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: medRxiv : the preprint server for health sciences
Published: September 10, 2024
Last Updated: 09/26/2026