Pal M. Bjornstad

Oslo, 0450, Norway

Last Updated: 09/26/2026

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Found 13 publications

A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20.

A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20.

Journal: Genes

Published: February 11, 2026

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.

Journal: Clinical genetics

Published: August 07, 2025

Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.

Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 15, 2025

A preliminary evaluation of a fast, low-cost, and high-throughput nucleic acid extraction method for bacterial microbiota profiling in low-microbial biomass samples.

A preliminary evaluation of a fast, low-cost, and high-throughput nucleic acid extraction method for bacterial microbiota profiling in low-microbial biomass samples.

Journal: Scientific reports

Published: October 14, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: January 03, 2024

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Journal: Genes

Published: September 28, 2023

A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.

A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.

Journal: European journal of human genetics : EJHG

Published: July 03, 2023

Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples.

Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples.

Journal: Molecular psychiatry

Published: May 11, 2023

Human thymic putative CD8αα precursors exhibit a biased TCR repertoire in single cell AIRR-seq.

Human thymic putative CD8αα precursors exhibit a biased TCR repertoire in single cell AIRR-seq.

Journal: Scientific reports

Published: March 30, 2023

Establishment of killer whale (Orcinus orca) primary fibroblast cell cultures and their transcriptomic responses to pollutant exposure.

Establishment of killer whale (Orcinus orca) primary fibroblast cell cultures and their transcriptomic responses to pollutant exposure.

Journal: Environment international

Published: December 21, 2022

A multi-omics approach to visualize early neuronal differentiation from hESCs in 4D.

A multi-omics approach to visualize early neuronal differentiation from hESCs in 4D.

Journal: iScience

Published: March 01, 2022

Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing.

Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing.

Journal: BMC genomics

Published: October 12, 2021

Showing 1-12 of 13

Last Updated: 09/26/2026