Eirik Frengen

9PUBLICATIONS
37CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesMetabolic medicineEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)
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Publications (9)

|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

|Jul 08, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Amama Ghaffar, Tehmeena Akhter, Petter Strømme

|Apr 27, 2024
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Doriana Misceo, Petter Strømme, Fatemeh Bitarafan

|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

|Mar 14, 2023
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.

Doriana Misceo, Lisa Lirussi, Petter Strømme

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Frequent Collaborators

7 joint publications

Doriana Misceo

3 joint publications

Petter Strømme

3 joint publications

Pål Marius Bjørnstad

2 joint publications

Arvind Y M Sundaram