Sofia Frisk

4PUBLICATIONS
22CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Photonics, optoelectronics and optical communicationsGene mapping
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Publications (4)

|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart

|Feb 04, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell

|Mar 29, 2019
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Sofia Frisk, Fulya Taylan, Izabela Blaszczyk

|Nov 21, 2018
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.

Sofia Frisk, Catherine Grandpeix-Guyodo, Karin Popovic Silwerfeldt

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Frequent Collaborators

2 joint publications

Fulya Taylan

2 joint publications

Anna Lindstrand

1 joint publications

Eva-Lena Stattin

1 joint publications

Alexandra Wachtmeister