Maritta Pigg-Hellstrom

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 11 publications

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Journal: Genome medicine

Published: May 31, 2025

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Journal: Frontiers in genetics

Published: February 21, 2025

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Journal: Genes

Published: January 18, 2023

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

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

Published: February 18, 2022

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Journal: PloS one

Published: January 22, 2021

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Journal: Genes

Published: December 23, 2020

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Journal: Genome medicine

Published: June 29, 2020

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Journal: Human molecular genetics

Published: November 14, 2016

Drug-Mediated Gene Regulation of Vitamin D3 Metabolism in Primary Human Dermal Fibroblasts.

Drug-Mediated Gene Regulation of Vitamin D3 Metabolism in Primary Human Dermal Fibroblasts.

Journal: Basic & clinical pharmacology & toxicology

Published: May 06, 2016

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.

Journal: Acta dermato-venereologica

Published: March 08, 2014

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.

Journal: Clinical and experimental dermatology

Published: May 10, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026