Anna Norberg

Umea, AC, Sweden

Last Updated: 09/26/2026

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Found 14 publications

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.

Journal: Scientific reports

Published: March 26, 2025

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: December 17, 2024

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Journal: European journal of human genetics : EJHG

Published: January 09, 2024

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.

Journal: Human molecular genetics

Published: March 29, 2023

DNA methylation variations and epigenetic aging in telomere biology disorders.

DNA methylation variations and epigenetic aging in telomere biology disorders.

Journal: Scientific reports

Published: March 03, 2023

Genetic Subtypes and Outcome of Patients Aged 1 to 45 Years Old With Acute Lymphoblastic Leukemia in the NOPHO ALL2008 Trial.

Genetic Subtypes and Outcome of Patients Aged 1 to 45 Years Old With Acute Lymphoblastic Leukemia in the NOPHO ALL2008 Trial.

Journal: HemaSphere

Published: February 08, 2023

Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis.

Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis.

Journal: British journal of haematology

Published: December 20, 2019

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.

Journal: Cell death & disease

Published: November 14, 2019

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.

Journal: Leukemia

Published: June 18, 2018

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Journal: Orphanet journal of rare diseases

Published: April 11, 2018

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Journal: European journal of human genetics : EJHG

Published: July 13, 2017

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Journal: BMC medical genetics

Published: November 24, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026