Dorte Launholt Lildballe

8PUBLICATIONS
60CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Adolescent healthMedical infection agents (incl. prions)Cardiovascular medicine and haematology not elsewhere classified
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Publications (8)

|Sep 28, 2026
Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

|Mar 31, 2026
Short-read genome sequencing at population scale: diagnostic insights from 2317 patients.

Søren L Faergeman, Lotte Andreasen, Naja Becher

|Jan 22, 2026
Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.

Dorte Launholt Lildballe, Morten Reiffenstein Huno, Lukas Ochsner Reynaud Ridder

|Mar 19, 2025
Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.

Camilla Mains Balle, Dorte L Lildballe, Ivonne Bedei

|Oct 12, 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.

Dorte L Lildballe, Sara Markholt, Christina Daugaard Lyngholm

|May 22, 2024
Comparison of the ABC and ACMG systems for variant classification.

Gunnar Houge, Eirik Bratland, Ingvild Aukrust

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Frequent Collaborators

3 joint publications

Claus Højbjerg Gravholt

2 joint publications

Ida Vogel

1 joint publications

Line Dahl Jeppesen

1 joint publications

Lotte Hatt