Sofia Frisk

Om mig
Publikationer
Forskningsbidrag
CV
Populärvetenskap och samverkan

Om mig

Jag arbetar som läkare på Klinisk genetik och forskar parallellt inom
sällsynta diagnoser. Jag träffar patienter utan känd diagnos och hjälper
till att förhoppningsvis hitta orsaken för att sedan kunna återkoppla och
ge individanpassad genetisk rådgivning till patienten/familjen.
Forskar-ST, Region Stockholm (combined residency and PhD training), 2017-2022
Sällsyntafondens stipendium, 2021
KI travel grant, 2022
MDK utvecklingsbidrag för mosaicism-diagnostik, 2022

Artiklar

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
Journal 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

Alla övriga publikationer

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
Thesis / dissertation: 2022
Studies of genetic mosaicism in rare diseases
Frisk, Sofia
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

Forskningsbidrag

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

Anställningar

Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2022-2025

Examina och utbildning

Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2022

Om mig

Artiklar

Alla övriga publikationer

Forskningsbidrag

Anställningar

Examina och utbildning

Nyheter från KI

Kalenderhändelser från KI