Sofia Frisk
Affiliated to Research
E-mail: sofia.frisk@ki.se
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Klinisk genetik, 171 76 Stockholm
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
- Article: GENOME MEDICINE. 2026;18(1):30Lindstrand A; Lagerstedt-Robinson K; Jemt A; Kvarnung M; Ygberg S; Vonlanthen S; Oscarson M; Nilsson D; Lesko N; Mantero AS; Anderlid B-M; Arnell H; Arthur C; Bajalica-Lagercrantz S; Barbaro M; Bergman P; Bjorck E; Picard OB; Bruhn H; Carlsten J; Correia SP; De Geer K; Delgado Vega AM; Ehn E; Eisfeldt J; Ek M; Elvers I; Engvall M; Freyer C; Frisk S; Graff C; Grigelioniene G; Gustafsson P; Hammarsjo A; Helgadottir HT; Hellstrom Pigg M; Henry OJ; Hagglund M; Iwarsson E; Janvid V; Soller MJ; Sundin L; Kuchinskaya E; Kampe A; Leinfelt A; Lieden A; Lindelof H; Lyander A; Malmgren H; Mannila M; Marits P; Naess K; Neethiraj R; Nyren K; Pappas C; Paucar M; Pekkola Pacheco N; Pena Perez L; Pettersson M; Pruisscher P; Rasi C; Renevey A; Rossner S; Sahlin E; Stenund E; Stodberg T; Sundin M; Svard K; Tesi B; Tham E; Thonberg H; Tohonen V; Ueberschar M; Wallander K; Westenius E; Winberg J; Winblad N; Wincent J; Winerdal M; Wredenberg A; Zetterlund A; Zetterstrom RH; Ofverholm I; Nordgren A; Stranneheim H; Wirta V; Wedell A
- Article: EUROPEAN JOURNAL OF PEDIATRICS. 2025;185(1):14Gasparella P; Haxhija EQ; Andersen R; Barea M; Baselga E; Serrano MB; Berger S; Bisdorff AA; Boccara O; Borgards P; Bom-Sucesso M; Boon LM; Cimpean AM; Diociaiuti A; Dvorakova V; Hachem ME; Frisk S; Ghaffarpour N; Holm A; Irvine AD; Kaltoft M; Kapp FG; Koskova O; Kyrklund K; Madureira M; Palionis D; Przewratil P; Schonewolf-Greulich B; Stanciulescu M-C; Sterba J; Tolonen J; Vaisnyte B; Van Der Vleuten C; Wyrzykowski D; Kool LS; Vikkula M
- Journal article: JOURNAL OF VASCULAR ANOMALIES. 2025;6(1):e102Baselga E; Andersen R; Barea M; Bejarano Serrano M; Berger S; Bisdorff-Bresson A; Boccara O; Bom-Sucesso M; Boon LM; Borgards P; Diociaiuti A; Dompmartin A; Dvorakova V; El Hachem M; Frisk S; Gasparella P; Ghaffarpour N; Haxhija E; Hjuler T; Holm A; Kaltoft M; Kapp FG; Kyrklund K; Irvine AD; Madureira M; Palionis D; Rößler J; Salminen P; Tolonen J; Vaisnyte B; Van Den Bosch C; van der Vleuten C; Schultze Kool L; Vikkula M
- Article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):213Revencu 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):e1880Frisk 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):141-146Ponten 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):118-125Frisk 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):2103-2110Frisk S; Grandpeix-Guyodo C; Silwerfeldt KP; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A
- Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2012;22:s29Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Århem P
- Article: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2006;120(6):383-390Andreasson H; Nilsson M; Budowle B; Frisk S; Allen M
All other publications
- Review: PRESSE MEDICALE. 2025;54(3):104293Fransen J; Frisk S; Ghaffarpour N
- Preprint: RESEARCH SQUARE. 2025Lindstrand A; Lagerstedt-Robinson K; Jemt A; Kvarnung M; Ygberg S; Vonlanthen S; Oscarson M; Nilsson D; Lesko N; Mantero AS; Anderlid BM; Arnell H; Arthur C; Lagercrantz SB; Barbaro M; Bergman P; Björck E; Picard OB; Bruhn H; Carlsten J; Correia S; De Geer K; Vega AD; Ehn E; Eisfeldt J; Ek M; Elvers I; Engvall M; Freyer C; Frisk S; Graff C; Grigelioniené G; Gustafsson P; Hammarsjö A; Helgadottir H; Pigg MH; Henry O; Hägglund M; Iwarsson E; Janvid V; Soller MJ; Karlsson L; Kuchinskaya E; Kämpe A; Leinfelt A; Liedén A; Lindelöf H; Lyander A; Malmgren H; Mannila M; Marits P; Naess K; Neethiraj R; Nyren K; Pappas C; Arce MP; Pacheco NP; Perez LP; Pettersson M; Pruisscher P; Rasi C; Renevey A; Rössner S; Sahlin E; Stenund E; Stödberg T; Sundin M; Svärd K; Tesi B; Tham E; Thonberg H; Töhönen V; Ueberschär M; Wallander K; Westenius E; Winberg J; Winblad N; Wincent J; Winerdal M; Wredenberg A; Zetterlund A; Zetterström R; Öfverholm I; Nordgren A; Stranneheim H; Wirta V; Wedell A
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1128Hammarsjo A; Sollander K; Frisk S
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1128Hammarsjo A; Sollander K; Frisk S
- Corrigendum: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):369Revencu 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
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463Frisk SA; Ponten E; Lagerstedt-Robinson K; Vaz R; Taylan F; Nordgren A
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520Taylan 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):26ASahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Ogren SO; Arhem P
- Conference publication: INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY. 2012;15:167Sahlholm K; Frisk S; Marcellino D; Nilsson J; Fuxe K; Arhem P
- Meeting abstract: BIOPHYSICAL JOURNAL. 2012;102(3):517ASahlholm K; Frisk S; Nilsson J; Marcellino D; Fuxe K; Arhem P
- Meeting abstract: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2011;21:S511-S512Sahlholm K; Frisk S; Fuxe K; Arhem P
Grants
- Swedish Research Council1 July 2023 - 30 June 2026
Employments
- Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2026-2027
- 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