Vasiliki Karageorgou

Rostock, MV 18055, Germany

Last Updated: 09/26/2026

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Found 12 publications

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

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

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Journal: Human genetics

Published: March 08, 2023

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 26, 2022

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.

Journal: Frontiers in genetics

Published: October 31, 2021

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Journal: Nature genetics

Published: October 11, 2021

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

Journal: Journal of medical genetics

Published: August 11, 2021

Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.

Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.

Journal: Clinical genetics

Published: June 28, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 19, 2021

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Journal: Brain : a journal of neurology

Published: March 17, 2021

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 05, 2021

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Journal: European journal of human genetics : EJHG

Published: May 10, 2020

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Journal: Clinical genetics

Published: August 25, 2019

Showing 1-12 of 12

Last Updated: 09/26/2026