Dorte L. Lildballe

Arhus, Denmark

Last Updated: 09/26/2026

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Found 58 publications

Comprehensive genetic testing reveals a dual-molecular basis for severe Andersen-Tawil syndrome and enables precision-based treatment.

Comprehensive genetic testing reveals a dual-molecular basis for severe Andersen-Tawil syndrome and enables precision-based treatment.

Journal: HeartRhythm case reports

Published: July 19, 2026

A CACNB2b variant causing reduced CaV1.2 current in monozygotic twin brothers with Brugada syndrome.

A CACNB2b variant causing reduced CaV1.2 current in monozygotic twin brothers with Brugada syndrome.

Journal: HeartRhythm case reports

Published: January 19, 2026

Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing.

Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing.

Journal: JHEP reports : innovation in hepatology

Published: October 26, 2025

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients.

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients.

Journal: European journal of human genetics : EJHG

Published: August 22, 2025

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

Journal: European journal of human genetics : EJHG

Published: July 29, 2025

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.

Journal: Kidney international reports

Published: January 14, 2025

Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.

Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.

Journal: Clinical chemistry and laboratory medicine

Published: December 02, 2024

MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families.

MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families.

Journal: Clinical kidney journal

Published: July 05, 2024

Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case.

Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case.

Journal: European journal of medical genetics

Published: April 18, 2024

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Journal: American journal of medical genetics. Part A

Published: January 18, 2024

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

Journal: Clinical kidney journal

Published: January 05, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

Showing 1-12 of 58

Last Updated: 09/26/2026