Gijs W. Van Haaften
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 91 publications
The SMN locus in the T2T era: Structure, gene conversion, and clinical implications.
Journal: Trends in genetics : TIG
Published: January 30, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.
Journal: Neurology. Genetics
Published: October 06, 2025
Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).
Journal: International journal of molecular sciences
Published: March 03, 2025
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.
Journal: Human molecular genetics
Published: January 30, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.
Journal: Nephron
Published: December 21, 2024
Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.
Journal: Scientific reports
Published: December 08, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
Journal: JIMD reports
Published: September 26, 2024
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Journal: Genome medicine
Published: September 18, 2024
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.
Journal: American journal of medical genetics. Part A
Published: July 13, 2024
Identification of candidate genes for developmental colour agnosia in a single unique family.
Journal: PloS one
Published: June 30, 2023
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Journal: Brain : a journal of neurology
Published: June 25, 2023
Last Updated: 09/26/2026