Sofia Frisk

Quantification of mtDNA mixtures in forensic evidence material using pyrosequencing

H. Andréasson, M.E. Nilsson, Bruce Budowle et al. · International Journal of Legal Medicine · 2006 · 43 citations

Forensics Analysis, Engineering, Mtdna Mixtures +9

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

Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell et al. · Molecular Genetics & Genomic Medicine · 2022 · 23 citations · Full text

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

Sofia Frisk, Fulya Taylan, Izabela Blaszczyk et al. · Clinical Genetics · 2019 · 16 citations · Full text

Muscle Function, Genetics, Upper Limb Overgrowth +23

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

Emeli Pontén, Sofia Frisk, Fulya Taylan et al. · Journal of Medical Genetics · 2020 · 16 citations · Full text

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 et al. · Orphanet Journal of Rare Diseases · 2024 · 10 citations · Full text