Siren Berland

Bergen, Norway

Last Updated: 09/26/2026

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Found 50 publications

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

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

Published: September 16, 2025

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Journal: Journal of inherited metabolic disease

Published: June 02, 2025

The impact of induced burst suppression on outcomes in patients with POLG-related status epilepticus.

The impact of induced burst suppression on outcomes in patients with POLG-related status epilepticus.

Journal: Seizure

Published: February 11, 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

Status epilepticus in POLG disease: a large multinational study.

Status epilepticus in POLG disease: a large multinational study.

Journal: Journal of neurology

Published: March 27, 2024

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 29, 2024

Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

Journal: Annals of clinical and translational neurology

Published: February 06, 2024

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Journal: Clinical genetics

Published: August 27, 2023

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Journal: Clinical genetics

Published: July 28, 2023

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.

Journal: Pediatrics

Published: May 24, 2023

Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].

Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].

Journal: Epilepsy research

Published: March 11, 2023

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

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Last Updated: 09/26/2026