Eirik Bratland

Bergen, 5021, Norway

Last Updated: 09/26/2026

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Found 55 publications

Multifocal HPV16-positive squamous cell carcinomas in CTLA-4 haploinsufficiency: expanding the spectrum of virus-associated malignancies.

Multifocal HPV16-positive squamous cell carcinomas in CTLA-4 haploinsufficiency: expanding the spectrum of virus-associated malignancies.

Journal: Immunologic research

Published: June 30, 2026

Systematic and proactive evaluation of AIRE missense variant effects.

Systematic and proactive evaluation of AIRE missense variant effects.

Journal: bioRxiv : the preprint server for biology

Published: December 03, 2025

Systematic and proactive evaluation of AIRE missense variant effects.

Systematic and proactive evaluation of AIRE missense variant effects.

Journal: American journal of human genetics

Published: December 01, 2025

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 21, 2025

Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.

Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 21, 2025

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 2025

CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9.

CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9.

Journal: Haematologica

Published: May 07, 2025

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.

Journal: Case reports in ophthalmology

Published: April 09, 2025

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

Journal: Frontiers in immunology

Published: February 07, 2025

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: August 01, 2024

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Journal: Nature genetics

Published: July 09, 2024

Rare copy number variation in autoimmune Addison's disease.

Rare copy number variation in autoimmune Addison's disease.

Journal: Frontiers in immunology

Published: January 22, 2024

Showing 1-12 of 55

Last Updated: 09/26/2026