Pernille Mathiesen Tørring
7PUBLICATIONS
40CO-AUTHORS
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Publications (7)
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|Oct 30, 2025
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.Pernille Darre Haahr, Qin Hao, Klaus Brusgaard
|Aug 23, 2025
Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.Ieva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen
|Nov 26, 2022
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.Liselot van der Laan, Kathleen Rooney, Mariëlle Alders
|Jul 26, 2021
Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen
|Jul 03, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.Stephanie Oates, Michael Absoud, Sushma Goyal
|Oct 15, 2020
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.Katrine S Aagaard, Klaus Brusgaard, Ieva Miceikaite
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Frequent Collaborators
3 joint publications
Ieva Miceikaite
2 joint publications
Charlotte Brasch-Andersen
2 joint publications
Martin Jakob Larsen
2 joint publications
Qin Hao
1 joint publications
Katrine S Aagaard
1 joint publications
Stephanie Oates
1 joint publications
Ulrike Hüffmeier
1 joint publications
Diana Le Duc
1 joint publications
Anette Drøhse Kjeldsen
1 joint publications
Karen Low
