Pernille Axél Gregersen

8PUBLICATIONS
26CO-AUTHORS
NeurogeneticsMedical infection agents (incl. prions)Gene mappingCardiology (incl. cardiovascular diseases)Haematological tumours
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

|Dec 28, 2025
The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

Marie Lorans, Kristian Alsbjerg Skipper, Trine Østergaard Nielsen

|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

|Sep 06, 2024
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Pernille Axél Gregersen, Anna Hammarsjö, Lise Graversen

|Jun 14, 2022
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Sofus Sølyst, Riina Oksjoki, Stense Farholt

|Mar 28, 2022
Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion.

Saga Elise Eiset, Mikkel Funding, Hilary Racher

|Sep 27, 2021
Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: 'That is exactly what I have been missing'.

Pernille Axel Gregersen, Mikkel Funding, Jan Alsner

Pageof 2

Frequent Collaborators

1 joint publications

Anna Byrjalsen

1 joint publications

Ulrik K Stoltze

1 joint publications

Mana M Mehrjouy

1 joint publications

Nanna Moeller Barnkob