Sofia Frisk

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About me

I work as a consultant at Department of Clinical Genetics, at Karolinska University Hospital, passionate about genetics in rare diseases, especially understanding mosaic mechanisms. I combine my research work with clinical work and strive to solve the unsolved.

Swedish Research Council has awarded me a grant to do a postdoctoral project in Brussels 2023-2026, focusing on finding genetic mechanisms in vascular anomalies.

Articles

Journal article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):369
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA (vol 19, 213, 2024)
Revencu N; Eijkelenboom A; Bracquemart C; Alhopuro P; Armstrong J; Baselga E; Cesario C; Dentici ML; Eyries M; Frisk S; Karstensen HG; Gene-Olaciregui N; Kivirikko S; Lavarino C; Mero I-L; Michiels R; Pisaneschi E; Schoenewolf-Greulich B; Wieland I; Zenker M; Vikkula M
Journal article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):213
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Revencu N; Eijkelenboom A; Bracquemart C; Alhopuro P; Armstrong J; Baselga E; Cesario C; Dentici ML; Eyries M; Frisk S; Karstensen HG; Gene-Olaciregui N; Kivirikko S; Lavarino C; Mero I-L; Michiels R; Pisaneschi E; Schoenewolf-Greulich B; Wieland I; Zenker M; Vikkula M
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; Jantti 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
Ponten 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; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Article: 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; Silwerfeldt KP; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A
Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2012;22:s29
P.1.030 Antagonist dissociation from dopamine D2 receptors: studies using a time-resolved ion channel activation assay
Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Århem P
Article: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2006;120(6):383-390
Quantification of mtDNA mixtures in forensic evidence material using pyrosequencing
Andreasson H; Nilsson M; Budowle B; Frisk S; Allen M

All other publications

Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
Parental mosaicism is underestimated in rare intellectual disability syndromes
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Doctoral thesis: 2022
Studies of genetic mosaicism in rare diseases
Frisk S
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463
Non-mosaic germline cancer hotspot mutation p. Ser1344Leu in the RNase IIIa domain of DICER1 causes a GLOW syndrome-like phenotype
Frisk SA; Ponten E; Lagerstedt-Robinson K; Vaz R; Taylan F; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
Mosaic activating PIK3CA mutations during early embryonic development cause ectopic muscle development and upper limb overgrowth
Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Meeting abstract: BIOPHYSICAL JOURNAL. 2013;104(2):26A
Novel Aspects of the Reversibility of the Antagonism at the Dopamine D2 Receptor by Antipsychotics
Sahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Ogren SO; Arhem P
Conference publication: INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY. 2012;15:167
Antagonist dissociation from dopamine D2 receptors - dopamine stabilizers unbind faster than clozapine and quetiapine
Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Arhem P
Meeting abstract: BIOPHYSICAL JOURNAL. 2012;102(3):517A
Dopamine D2 Receptor Antagonist Unbinding Rates Investigated using a Time-Resolved Ion Channel Activation Assay
Sahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Arhem P
Meeting abstract: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2011;21:S511-S512
Investigation of antagonist unbinding from dopamine D₂ receptors using a real-time ion channel activation assay
Sahlholm K; Frisk S; Fuxe K; Arhem P

Grants

Precision-medicine in vascular anomalies by identification of new genetic mechanisms, genotype-phenotype correlations and establishment of treatment stratification based on genetic ethology
Swedish Research Council
1 July 2023 - 30 June 2026

Employments

Postdoctoral Researcher, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2025-2026

Degrees and Education

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

About me

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