Sofia Frisk

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 5

Top Topics

Breast Cancer Risk

Intellectual Disability

Top Venues

Orphanet journal of rare diseases

Molecular genetics & genomic medicine

Clinical case reports

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA. Orphanet journal of rare diseases 19 (1) (2024)
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA. Orphanet journal of rare diseases 19 (1) (2024)
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt-Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Molecular genetics & genomic medicine 10 (4) (2022)
Sofia Frisk, Fulya Taylan, Izabela Blaszczyk, Inger Nennesmo, Göran Annerén, Bettina Herm, Eva-Lena Stattin, Vasilios Zachariadis, Anna Lindstrand, Bianca Tesi, Tobias Laurell, Ann Nordgren
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Clinical genetics 96 (2) (2019)
Sofia Frisk, Catherine Grandpeix-Guyodo, Karin Popovic Silwerfeldt, Helgi Thor Hjartarson, Dimitris Chatzianastassiou, Irina Magnusson, Tobias Laurell, Ann Nordgren
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Clinical case reports 6 (11) (2018)