Pål Marius Bjørnstad

7PUBLICATIONS
16CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Cancer geneticsSeparation technologies
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Publications (7)

|May 04, 2026
A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20.

|Nov 04, 2025
CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.

Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim

|Feb 13, 2024
Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples.

Asbjørn Holmgren, Ibrahim Akkouh, Kevin Sean O'Connell

|Jan 03, 2024
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.

Pål Marius Bjørnstad, Ragnhild Aaløkken, June Åsheim

|Nov 29, 2023
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.

Pål Marius Bjørnstad, Ragnhild Aaløkken, June Åsheim

|Nov 25, 2023
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero

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Frequent Collaborators

3 joint publications

Arvind Y M Sundaram

3 joint publications

Gregor D Gilfillan

3 joint publications

Doriana Misceo

3 joint publications

Eirik Frengen