Anita Nikoncuk
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 10 publications
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2025
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants.
Journal: Cell
Published: October 24, 2024
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Journal: Acta neuropathologica
Published: March 24, 2023
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Journal: Brain : a journal of neurology
Published: May 31, 2021
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Journal: Genome medicine
Published: April 28, 2021
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Journal: American journal of human genetics
Published: June 30, 2020
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Journal: Brain : a journal of neurology
Published: April 27, 2020
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Journal: Acta neuropathologica
Published: October 25, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026