Eva Lausberg

Aachen, NW 52074, Germany

Last Updated: 09/26/2026

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Found 13 publications

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Journal: Deutsches Arzteblatt international

Published: March 19, 2026

Brain malformations and seizures by impaired chaperonin function of TRiC.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Journal: Science (New York, N.Y.)

Published: October 31, 2024

CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.

CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.

Journal: BMC bioinformatics

Published: September 10, 2024

AUTS2-related syndrome: Insights from a large European cohort.

AUTS2-related syndrome: Insights from a large European cohort.

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

Published: July 28, 2024

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.

Journal: Journal of medical case reports

Published: June 08, 2024

Complex structural variation and nonsense variant in trans cause VPS50-related disorder.

Complex structural variation and nonsense variant in trans cause VPS50-related disorder.

Journal: Journal of medical genetics

Published: March 11, 2024

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

Journal: Frontiers in cell and developmental biology

Published: August 16, 2022

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.

Journal: Deutsches Arzteblatt international

Published: May 11, 2022

A Hypercaloric Diet Induces Early Podocyte Damage in Aged, Non-Diabetic Rats.

A Hypercaloric Diet Induces Early Podocyte Damage in Aged, Non-Diabetic Rats.

Journal: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology

Published: November 15, 2021

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

Journal: The Journal of clinical investigation

Published: August 12, 2020

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.

Journal: Brain : a journal of neurology

Published: January 25, 2020

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.

Journal: Journal of medical genetics

Published: January 20, 2020

Showing 1-12 of 13

Last Updated: 09/26/2026