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Pernille Mathiesen Tørring

7PUBLICATIONS
40CO-AUTHORS
HaematologyEpigenetics (incl. genome methylation and epigenomics)Genetic immunologyFoetal development and medicineForensic epidemiology
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Journal

Publications (7)

Sort by Publication Date:
|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 <i>TRIP12</i> 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

Frequent Collaborators

3 joint publications

Ieva Miceikaite

2 joint publications

Charlotte Brasch-Andersen

2 joint publications

Martin Jakob Larsen

2 joint publications

Qin Hao

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