Michela Barbaro

Stockholm, AB 17177, Sweden

Last Updated: 09/26/2026

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Found 28 publications

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.

Journal: International journal of neonatal screening

Published: July 22, 2025

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

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Journal: Epilepsia

Published: November 19, 2024

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.

Journal: NPJ Parkinson's disease

Published: September 12, 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Journal: American journal of human genetics

Published: March 07, 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Journal: bioRxiv : the preprint server for biology

Published: February 17, 2023

First Year of TREC-Based National SCID Screening in Sweden.

First Year of TREC-Based National SCID Screening in Sweden.

Journal: International journal of neonatal screening

Published: July 15, 2021

Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.

Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.

Journal: JIMD reports

Published: July 09, 2021

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

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.

Journal: Epilepsia

Published: May 12, 2020

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.

Journal: The Journal of steroid biochemistry and molecular biology

Published: February 09, 2020

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.

Journal: Clinical biochemistry

Published: April 29, 2019

Showing 1-12 of 28

Last Updated: 09/26/2026