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 am passionate about genetics in rare diseases, especially understanding
mosaic mechanisms. I combine research with clinical work and strive to solve
the unsolved.
* Forskar-ST, Region Stockholm (combined residency and PhD training),
2017-2022
* Sällsyntafondens stipendium, 2021
* KI travel grant, 2022
* MDK utvecklingsbidrag för mosaicism-diagnostik, 2022
Articles
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Journal article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):213
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
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Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
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Article: CLINICAL GENETICS. 2019;96(2):118-125
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Journal article: CLINICAL CASE REPORTS. 2018;6(11):2103-2110
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Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2012;22:s29
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Article: INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2006;120(6):383-390
All other publications
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
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Thesis / dissertation: 2022
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
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Meeting abstract: BIOPHYSICAL JOURNAL. 2013;104(2):26A
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Meeting abstract: BIOPHYSICAL JOURNAL. 2012;102(3):517A
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Conference publication: INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY. 2012;15:167
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Meeting abstract: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2011;21:S511-S512
Grants
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Swedish Research Council1 July 2023 - 30 June 2026
Employments
- Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025
Degrees and Education
- Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022