Agne Lieden

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 29 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

EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.

EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.

Journal: Brain : a journal of neurology

Published: October 10, 2024

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

Journal: International journal of molecular sciences

Published: June 16, 2022

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

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

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

Published: June 11, 2020

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.

Journal: PloS one

Published: May 16, 2020

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Journal: Frontiers in genetics

Published: May 31, 2019

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Journal: Genome medicine

Published: May 07, 2019

Cell-free tumour DNA testing for early detection of cancer - a potential future tool.

Cell-free tumour DNA testing for early detection of cancer - a potential future tool.

Journal: Journal of internal medicine

Published: March 13, 2019

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Journal: PloS one

Published: July 06, 2018

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Journal: PLoS genetics

Published: June 25, 2018

Prognosis of Preschool Eczema and Factors of Importance for Remission.

Prognosis of Preschool Eczema and Factors of Importance for Remission.

Journal: Acta dermato-venereologica

Published: March 07, 2018

Showing 1-12 of 29

Last Updated: 09/26/2026