Kristof Van Schil
Edegem, VLG, Belgium
Last Updated: 09/26/2026
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Found 28 publications
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Journal: HGG advances
Published: November 26, 2025
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
Journal: American journal of human genetics
Published: September 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Journal: European journal of human genetics : EJHG
Published: March 04, 2025
TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem proteinopathy.
Journal: Neuromuscular disorders : NMD
Published: February 06, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 Variants.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 04, 2024
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Journal: NPJ genomic medicine
Published: October 01, 2024
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.
Journal: Neuromuscular disorders : NMD
Published: March 03, 2023
Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: February 22, 2023
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Journal: Journal of medical genetics
Published: January 17, 2023
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Journal: Genes
Published: November 30, 2022
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 30, 2022
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Journal: The Journal of clinical investigation
Published: April 18, 2022
Last Updated: 09/26/2026