Sofia Frisk
Stockholm, AB, Sweden
Last Updated: 09/26/2026
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Found 8 publications
The VASCERN-VASCA diagnostic and management pathways for kaposiform hemangioendothelioma.
Journal: European journal of pediatrics
Published: September 04, 2025
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
Lymphatic malformations revisited: Genetics, clinics and future directions.
Journal: Presse medicale (Paris, France : 1983)
Published: February 23, 2025
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Journal: Orphanet journal of rare diseases
Published: October 07, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Journal: Orphanet journal of rare diseases
Published: December 12, 2023
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Journal: Molecular genetics & genomic medicine
Published: September 10, 2021
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Journal: Journal of medical genetics
Published: August 05, 2020
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
Journal: Clinical genetics
Published: February 21, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026