Petter Stromme

Oslo, 0450, Norway

Last Updated: 09/26/2026

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Found 47 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

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

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

Published: September 17, 2025

De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition.

De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: September 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

Vocal Cord Paresis and Neuropathic Pain in Infantile Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Case Report.

Vocal Cord Paresis and Neuropathic Pain in Infantile Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Case Report.

Journal: Case reports in neurology

Published: May 19, 2025

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Journal: Genes

Published: March 27, 2024

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

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

Journal: Communications biology

Published: January 04, 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

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 18, 2023

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

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

Published: April 07, 2022

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.

Journal: Brain : a journal of neurology

Published: March 29, 2022

DNA methylation episignature in Gabriele-de Vries syndrome.

DNA methylation episignature in Gabriele-de Vries syndrome.

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

Published: December 08, 2021

Showing 1-12 of 47

Last Updated: 09/26/2026