Concepedia

Author

Sofia Frisk

Karolinska InstitutetORCID

Also Known As

S. Frisk, Sofia Frisk

18

Publications

128

Citations

6

H-Index

21

Concepts

All Affiliations

Karolinska InstitutetKarolinska University HospitalUppsala University
SF

About

Sofia Frisk is an author at Karolinska Institutet specializing in health sciences, developmental biology, and developmental genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Engineering

1

1

43

2

Health Sciences

1

1

16

3

Medicine

1

1

16

4

Biostatistics

1

1

43

5

Cell Biology

1

1

16

Sofia Frisk

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5

Publications

108

Citations

5

H-Index

YearCitations

Quantification of mtDNA mixtures in forensic evidence material using pyrosequencing

H. Andréasson, M.E. Nilsson, Bruce Budowle,

International Journal of Legal Medicine

2006

43

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

Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell,

Molecular Genetics & Genomic Medicine

2022

23

Early activating somatic <i>PIK3CA</i> mutations promote ectopic muscle development and upper limb overgrowth

Sofia Frisk, Fulya Taylan, Izabela Blaszczyk,

Clinical Genetics

2019

16

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

Emeli Pontén, Sofia Frisk, Fulya Taylan,

Journal of Medical Genetics

2020

16

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart,

Orphanet Journal of Rare Diseases

2024

10

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