Sirkku Peltonen

- Docent,
Faculty of Medicine (University of Turku)
- ,
Dermatology and Venereology (Department of Clinical Medicine)

sipelto@utu.fi

Kiinamyllynkatu 4-8

Turku

ORCID identifier: https://orcid.org/orcid.org/0000-0003-0990-1430

Publications

1 of 6

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland (2025)
- American Journal of Medical Genetics Part A
Reinhold, Vivian; Valtanen, Mikko; Auranen, Kari; Syrjänen, Stina; Peltonen, Sirkku; Peltonen, Juha; Kallionpää, Roope A.
(A1 Refereed original research article in a scientific journal)
Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register-Based Analysis (2025)
- American Journal of Medical Genetics Part A
Reinhold, Vivian; Kallionpää, Roope; Valtanen, Mikko; Auranen, Kari; Syrjänen, Stina; Peltonen, Sirkku; Peltonen, Juha
(A1 Refereed original research article in a scientific journal)
Mass spectrometric insights into the protein composition of human cutaneous neurofibromas: comparison of neurofibromas with the overlying skin. (2025)
- British Journal of Cancer
Kallionpää, Roope A.; Martikkala, Eija; Haapaniemi, Pekka; Karppinen, Sanna-Maria; Riihilä, Pilvi; Rokka, Anne; Leivo, Ilmo; Pihlajaniemi, Taina; Peltonen, Sirkku; Peltonen, Juha
(A1 Refereed original research article in a scientific journal)
Pregnancy and the Risk for Cancer in Neurofibromatosis 1 (2025)
- Genes, Chromosomes and Cancer
Kallionpää, Roope A.; Määttanen, Juha; Leppävirta, Jussi; Peltonen, Sirkku; Peltonen, Juha
(A1 Refereed original research article in a scientific journal)
Characterization of Immune Cell Populations of Cutaneous Neurofibromas in Neurofibromatosis 1 (2024)
- Laboratory Investigation
Kallionpää Roope A., Peltonen Sirkku, Le Kim My, Martikkala Eija, Jääskeläinen Mira, Fazeli Elnaz, Riihilä Pilvi, Haapaniemi Pekka, Rokka Anne, Salmi Marko, Leivo Ilmo, Peltonen Juha
(A1 Refereed original research article in a scientific journal)
Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes (2024)
- Molecular Genetics and Genomic Medicine
Loponen Niina, Yla-Outinen Heli, Kallionpää Roope A., Valtanen Mikko, Auranen Kari, Järveläinen Hannu, Peltonen Sirkku, Peltonen Juha
(A1 Refereed original research article in a scientific journal)
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 (2023)
- EClinicalMedicine
Carton Charlotte, Evans D.Gareth, Blanco Ignacio, Friedrich Reinhard E., Ferner Rosalie E., Farschtschi Said, Salvador Hector, Azizi Amedeo A., Mautner Victor, Röhl Claas, Peltonen Sirkku, Stivaros Stavros, Legius Eric, Oostenbrink Rianne; ERN Genturis NF1 Tumour Management Guideline Group
(A2 Refereed review article in a scientific journal )
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)
- European Journal of Medical Genetics
Helenius Kjell, Ojala Liisa, Kainulainen Leena, Peltonen Sirkku, Hietala Marja, Pohjola Pia, Parikka Vilhelmiina
(A1 Refereed original research article in a scientific journal)
Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson’s disease (2023)
- NPJ Parkinson's disease
Flinkman Dani, Hong Ye, Gnjatovic Jelena, Deshpande Prasannakumar, Ortutay Zsuzsanna, Peltonen Sirkku, Kaasinen Valtteri, James Peter, Coffey Eleanor
(A1 Refereed original research article in a scientific journal)
The contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland (2023)
- European Journal of Human Genetics
Kallionpää Roope A., Johansson Edvard, Böckerman Petri, Peltonen Juha, Peltonen Sirkku
(A1 Refereed original research article in a scientific journal)
Complement Factor D Is a Novel Biomarker and Putative Therapeutic Target in Cutaneous Squamous Cell Carcinoma (2022)
- Cancers
Nezhad Pegah Rahmati, Riihilä Pilvi, Knuutila Jaakko S., Viiklepp Kristiina, Peltonen Sirkku, Kallajoki Markku, Meri Seppo, Nissinen Liisa, Kähäri Veli-Matti
(A1 Refereed original research article in a scientific journal)
Mast Cells in Human Cutaneous Neurofibromas: Density, Subtypes, and Association with Clinical Features in Neurofibromatosis 1 (2022)
- Dermatology
Kallionpää Roope A, Ahramo Kaisa, Martikkala Eija, Fazeli Elnaz, Haapaniemi Pekka, Rokka Anne, Leivo Ilmo, Harvima Ilkka T, Peltonen Juha, Peltonen Sirkku

(A1 Refereed original research article in a scientific journal)
The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: evidence from Finland (2022)
- Genetics in Medicine
Johansson Edvard, Kallionpää Roope A, Böckerman Petri, Peltonen Sirkku, Peltonen Juha
(A1 Refereed original research article in a scientific journal)
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience (2022)
- European Journal of Medical Genetics
Peltonen Sirkku, Jannic Arnaud, Wolkenstein Pierre
(A1 Refereed original research article in a scientific journal)
Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis (2022)
- Journal of Allergy and Clinical Immunology
Sliz Eeva, Huilaja Laura, Pasanen Anu, Laisk Triin, Reimann Ene, Mägi Reedik; FinnGen; Estonian Biobank Research Team, Hannula-Jouppi Katariina, Peltonen Sirkku, Salmi Teea, Koulu Leena, Tasanen Kaisa, Kettunen Johannes
(A1 Refereed original research article in a scientific journal)
A rare disease and education: Neurofibromatosis type 1 decreases educational attainment (2021)
- Clinical Genetics
Johansson Edvard, Kallionpää Roope A, Böckerman Petri, Peltonen Juha, Peltonen Sirkku
(A1 Refereed original research article in a scientific journal)
Circulating free DNA in the plasma of individuals with neurofibromatosis type 1 (2021)
- American Journal of Medical Genetics Part A
Kallionpää Roope A, Ahramo Kaisa, Aaltonen Marianna, Pennanen Paula, Peltonen Juha, Peltonen Sirkku
(A1 Refereed original research article in a scientific journal)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries (2021)
- Nature Communications
Gharahkhani Puya, Jorgenson Eric, Hysi Pirro, Khawaja Anthony P., Pendergrass Sarah, Han Xikun, Ong Jue Sheng, Hewitt Alex W., Segrè Ayellet V., Rouhana John M., Hamel Andrew R., Igo Jr Robert P., Choquet Helene, Qassim Ayub, Josyula Navya S., Bailey Jessica N. Cooke, Bonnemaijer Pieter W. M., Iglesias Adriana, Siggs Owen M., Young Terri L., Vitart Veronique, Thiadens Alberta A. H. J., Karjalainen Juha, Uebe Steffen, Melles Ronald B., Nair K. Saidas, Luben Robert, Simcoe Mark, Amersinghe Nishani, Cree Angela J., Hohn Rene, Poplawski Alicia, Chen Li Jia, Rong Shi-Song, Aung Tin, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya Gen, Shiga Yukihiro, Yamamoto Masayuki, Nakazawa Toru, Currant Hannah, Birney Ewan, Wang Xin, Auton Adam, Lupton Michelle K., Martin Nicholas G., Ashaye Adeyinka, Olawoye Olusola, Williams Susan E., Akafo Stephen, Ramsay Michele, Hashimoto Kazuki, Kamatani Yoichiro, Akiyama Masato, Momozawa Yukihide, Foster Paul J., Khaw Peng T., Morgan James E., Strouthidis Nicholas G., Kraft Peter, Kang Jae H., Pang Chi Pui, Pasutto Francesca, Mitchell Paul, Lotery Andrew J., Palotie Aarno, van Duijn Cornelia, Haines Jonathan L., Hammond Chris, Pasquale Louis R., Klaver Caroline C. W., Hauser Michael, Khor Chiea Chuen, Mackey David A., Kubo Michiaki, Cheng Ching-Yu, Craig Jamie E., MacGregor Stuart, Wiggs Janey L.; FinnGen Study
(A1 Refereed original research article in a scientific journal)
Haploinsufficiency of the NF1 gene is associated with protection against diabetes (2021)
- Journal of Medical Genetics
Kallionpää RA, Peltonen S, Leppävirta J, Pöyhönen M, Auranen K, Järveläinen H, Peltonen J
(A1 Refereed original research article in a scientific journal)
Increased risk for dementia in neurofibromatosis type 1 (2021)
- Genetics in Medicine
Kallionpää Roope A, Valtanen Mikko, Auranen Kari, Uusitalo Elina, Rinne Juha O, Peltonen Sirkku, Peltonen Juha

(A1 Refereed original research article in a scientific journal)