Dorte Launholt Lildballe
7PUBLICATIONS
55CO-AUTHORS
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Publications (7)
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|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
|Jul 21, 2023
A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.Dorte Launholt Lildballe, Naja Becher, Else Marie Vestergaard
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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
1 joint publications
Ripudaman Singh
1 joint publications
Katarina Ravn
1 joint publications
Mathias Kølvraa
1 joint publications
Palle Schelde
1 joint publications
Niels Uldbjerg
1 joint publications
Gunnar Houge
