Marie F. Smeland

Tromso, 9019, Norway

Last Updated: 09/26/2026

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Found 17 publications

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

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Journal: Neurology. Genetics

Published: October 06, 2025

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: Genome medicine

Published: December 12, 2023

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Journal: Brain : a journal of neurology

Published: June 25, 2023

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Journal: American journal of human genetics

Published: June 10, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

Journal: International journal of molecular sciences

Published: April 14, 2022

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

Journal: Human genetics

Published: November 02, 2021

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

Journal: Journal of medical genetics

Published: September 02, 2021

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Journal: European journal of human genetics : EJHG

Published: March 10, 2021

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

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

Published: December 18, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026