Soheil Yousefi
Rotterdam, ZH 3000CA, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 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
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Journal: Genome medicine
Published: April 28, 2021
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
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.
Journal: Frontiers in cellular neuroscience
Published: May 31, 2019
A SNP panel for identification of DNA and RNA specimens.
Journal: BMC genomics
Published: November 10, 2017
An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites.
Journal: NPJ aging and mechanisms of disease
Published: October 17, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026