Petter Strømme

4PUBLICATIONS
30CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Metabolic medicineEpigenetics (incl. genome methylation and epigenomics)
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Publications (4)

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

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

|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

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Frequent Collaborators

3 joint publications

Doriana Misceo

3 joint publications

Eirik Frengen

2 joint publications

Arvind Y M Sundaram

2 joint publications

Pål Marius Bjørnstad