Holger Prokisch
Munich, BY, Germany
Last Updated: 09/26/2026
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Found 357 publications
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.
Journal: Clinical genetics
Published: July 08, 2026
Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.
Journal: Molecular metabolism
Published: May 13, 2026
Trans-eQTLs reveal the architecture of human gene regulatory networks.
Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 28, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.
Journal: Human mutation
Published: April 21, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.
Journal: Annals of clinical and translational neurology
Published: February 14, 2026
Transaldolase deficiency - natural disease course towards adulthood.
Journal: Molecular genetics and metabolism
Published: January 08, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.
Journal: Neurology. Genetics
Published: November 10, 2025
Last Updated: 09/26/2026