Eirik Frengen

Oslo, 0450, Norway

Last Updated: 09/26/2026

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Found 50 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

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 13, 2025

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

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

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

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.

Journal: Science signaling

Published: February 07, 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

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Last Updated: 09/26/2026