Sofia Frisk

About me

Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jäntti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Pontén E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren A
Article: CLINICAL GENETICS. 2019;96(2):118-125

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Annerén G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A

Thesis / dissertation: 2022

Studies of genetic mosaicism in rare diseases

Frisk, Sofia
Other: CLINICAL CASE REPORTS. 2018;6(11):2103-2110

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

Frisk S; Grandpeix-Guyodo C; Popovic Silwerfeldt K; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022