Marte G. Haug

Trondheim, Norway

Last Updated: 09/26/2026

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Found 11 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

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.

Journal: Nature communications

Published: April 17, 2023

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Journal: Clinical genetics

Published: March 21, 2022

Correction: More accurate fetal diagnostics.

Correction: More accurate fetal diagnostics.

Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

Published: November 11, 2021

More accurate fetal diagnostics.

More accurate fetal diagnostics.

Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

Published: October 13, 2021

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Journal: American journal of medical genetics. Part A

Published: June 19, 2021

Defining the clinical phenotype of Saul-Wilson syndrome.

Defining the clinical phenotype of Saul-Wilson syndrome.

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

Published: November 21, 2019

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Journal: American journal of human genetics

Published: May 28, 2018

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 31, 2017

Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.

Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.

Journal: Clinical case reports

Published: August 02, 2017

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Journal: Acta ophthalmologica

Published: July 08, 2016

Showing 1-11 of 11

Last Updated: 09/26/2026