Eva Klopocki

Wuerzburg, BY, Germany

Last Updated: 09/26/2026

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Found 80 publications

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Journal: Clinical epigenetics

Published: June 13, 2026

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

Establishment of CRISPR/Cas9-edited LEMD2 knock-in (UKWCHFi001-B-1) and knock-out (UKWCHFi001-B-2) iPSC lines to investigate the mechanisms of LEMD2-associated cardiomyopathy.

Establishment of CRISPR/Cas9-edited LEMD2 knock-in (UKWCHFi001-B-1) and knock-out (UKWCHFi001-B-2) iPSC lines to investigate the mechanisms of LEMD2-associated cardiomyopathy.

Journal: Stem cell research

Published: March 12, 2026

Generation of the human induced pluripotent stem cell line UKWNLi010 derived from a patient carrying two homozygous single nucleotide polymorphisms (rs2839629 and rs915854) associated with an increased risk of painful bortezomib-induced peripheral neuropathy.

Generation of the human induced pluripotent stem cell line UKWNLi010 derived from a patient carrying two homozygous single nucleotide polymorphisms (rs2839629 and rs915854) associated with an increased risk of painful bortezomib-induced peripheral neuropathy.

Journal: Stem cell research

Published: October 03, 2025

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.

Journal: Clinical epigenetics

Published: August 27, 2025

Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair.

Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair.

Journal: Stem cell research

Published: March 14, 2025

Functional analyses of splice site variants in TCF12.

Functional analyses of splice site variants in TCF12.

Journal: Human genomics

Published: February 07, 2025

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Journal: Human genomics

Published: January 26, 2024

Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.

Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.

Journal: Journal of inherited metabolic disease

Published: December 01, 2023

Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.

Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.

Journal: Brain communications

Published: October 10, 2023

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders.

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders.

Journal: Hamostaseologie

Published: August 23, 2023

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.

Journal: Hamostaseologie

Published: August 23, 2023

Showing 1-12 of 80

Last Updated: 09/26/2026