Helena Malmgren

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 35 publications

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Journal: Cerebellum (London, England)

Published: December 08, 2025

TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.

TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.

Journal: Scientific reports

Published: July 03, 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

SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.

SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.

Journal: The Journal of clinical investigation

Published: March 06, 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

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Journal: European journal of human genetics : EJHG

Published: December 09, 2024

Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.

Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.

Journal: Acta obstetricia et gynecologica Scandinavica

Published: November 10, 2023

Novel findings in a Swedish primary familial brain calcification cohort.

Novel findings in a Swedish primary familial brain calcification cohort.

Journal: Journal of the neurological sciences

Published: August 30, 2023

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Journal: Frontiers in neurology

Published: February 20, 2023

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.

Journal: Journal of the neurological sciences

Published: January 30, 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

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Journal: Human mutation

Published: November 26, 2021

Showing 1-12 of 35

Last Updated: 09/26/2026