Bjorn I. Haukanes

Bergen, Norway

Last Updated: 09/26/2026

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Found 26 publications

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.

Journal: HGG advances

Published: January 17, 2026

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.

Journal: Hereditary cancer in clinical practice

Published: June 26, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

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

Published: August 29, 2023

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Journal: BMC cancer

Published: January 25, 2023

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Journal: Genes

Published: December 14, 2022

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.

Journal: Autism research : official journal of the International Society for Autism Research

Published: November 01, 2021

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Journal: Cold Spring Harbor molecular case studies

Published: July 08, 2021

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

Journal: Familial cancer

Published: July 03, 2021

DLG4-related synaptopathy: a new rare brain disorder.

DLG4-related synaptopathy: a new rare brain disorder.

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

Published: October 16, 2020

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.

Journal: Journal of medical genetics

Published: August 18, 2020

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?

Journal: European journal of human genetics : EJHG

Published: October 16, 2019

Showing 1-12 of 26

Last Updated: 09/26/2026