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

2 of 6

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (2021)
- Genetics in Medicine
Legius Eric, Messiaen Ludwine, Wolkenstein Pierre, Pancza Patrice, Avery Robert A, Berman Yemima, Blakeley Jaishri, Babovic-Vuksanovic Dusica, Cunha Karin Soares, Ferner Rosalie, Fisher Michael J, Friedman Jan M, Gutmann David H, Kehrer-Sawatzki Hildegard, Korf Bruce R, Mautner Victor-Felix, Peltonen Sirkku, Rauen Katherine A, Riccardi Vincent, Schorry Elizabeth, Stemmer-Rachamimov Anat, Stevenson David A, Tadini Gianluca, Ullrich Nicole J, Viskochil David, Wimmer Katharina, Yohay Kaleb, Huson Susan M, Evans D Gareth, Plotkin Scott R; International Consensus Group on Neurofibromatosis Diagnostic Criteria(I-NF-DC)
(A1 Refereed original research article in a scientific journal)
Signaling pathways in human osteoclasts differentiation: ERK1/2 as a key player (2021)
- Molecular Biology Reports
Pennanen Paula, Kallionpää Roope A, Peltonen Sirkku, Nissinen Liisa, Kähäri Veli-Matti, Heervä Eetu, Peltonen Juha
(A1 Refereed original research article in a scientific journal)
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling (2020)
- American Journal of Human Genetics
Rodriguez Benjamin AT, Bhan Arunoday, Beswick Andrew, Elwood Peter C, Niiranen Teemu J, Salomaa Veikko, Tregouet David-Alexandre, Morange Pierre-Emmanuel, Civelek Mete, Ben-Shlomo Yoav, Schlaeger Thorsten, Chen Ming-Huei, Johnson Andrew D; FinnGen Study
(A1 Refereed original research article in a scientific journal)
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study (2020)
- Genetics in Medicine
Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner V, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A, Harkness EF, Wolkenstein P, Peltonen J
(A1 Refereed original research article in a scientific journal)
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020)
- European Journal of Human Genetics
Tischkowitz Marc, Colas Chrystelle, Pouwels Sjak, Hoogerbrugge Nicoline; PHTS Guideline Development Group & The European Reference Network GENTURIS
(A1 Refereed original research article in a scientific journal)
Celebrating the 50th Anniversary of ESDR (2020)
- Journal of Investigative Dermatology
Peltonen Sirkku, Eming Sabine A., Griffiths Christopher E.M., Széll Márta, Kelsell David, De Rie Menno Alexander
(B1 Non-refereed article in a scientific journal)
Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health (2020)
- European Respiratory Journal
Strausz S, Ruotsalainen S, Ollila HM, Karjalainen J, Kiiskinen T, Reeve M, Kurki M, Mars N, Havulinna AS, Luonsi E, Mansour Aly D, Ahlqvist E, Teder-Laving M, Palta P, Groop L, Mäkitie A, Mägi R, Bachour A, Salomaa V, Palotie A, Tuomi T, Ripatti S, Palotie T, Ripatti S; FinnGen research group
(A1 Refereed original research article in a scientific journal)
Genomic prediction of alcohol-related morbidity and mortality (2020)
- Translational Psychiatry
Kiiskinen T, Mars NJ, Palviainen T, Koskela J, Ramo JT, Ripatti P, Ruotsalainen S, Palotie A, Madden PAF, Rose RJ, Kaprio J, Salomaa V, Makela P, Havulinna AS, Ripatti S
(A1 Refereed original research article in a scientific journal)
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes (2020)
- European Journal of Human Genetics
Frebourg Thierry, Lagercrantz Svetlana Bajalica, Oliveira Carla, Magenheim Rita, Evans D Gareth; European Reference Network GENTURIS
(A1 Refereed original research article in a scientific journal)
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells (2020)
- Nature
Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, Alexander G. Bick, Juha Karjalainen, Marcin Tabaka, Olga I. Gan, Aki S. Havulinna, Tuomo T. J. Kiiskinen, Caleb A. Lareau, Aitzkoa L. de Lapuente Portilla, Bo Li, Connor Emdin, Veryan Codd, Christopher P. Nelson, Christopher J. Walker, Claire Churchhouse, Albert de la Chapelle, Daryl E. Klein, Björn Nilsson, Peter W. F. Wilson, Kelly Cho, Saiju Pyarajan, J. Michael Gaziano, Nilesh J. Samani, Aviv Regev, Aarno Palotie, Benjamin M. Neale, John E. Dick, Pradeep Natarajan, Christopher J. O’Donnell, Mark J. Daly, Michael Milyavsky, Sekar Kathiresan, Vijay G. Sankaran; FinnGen; 23andMe Research Team
(A1 Refereed original research article in a scientific journal)
p53-Regulated Long Noncoding RNA PRECSIT Promotes Progression of Cutaneous Squamous Cell Carcinoma via STAT3 Signaling (2020)
- American Journal of Pathology
Minna Piipponen, Liisa Nissinen, Pilvi Riihilä, Mehdi Farshchian, Markku Kallajoki, Juha Peltonen, Sirkku Peltonen, Veli-Matti Kähäri
(A1 Refereed original research article in a scientific journal)
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers (2020)
- Nature Medicine
Mars Nina, Koskela Jukka T., Ripatti Pietari, Kiiskinen Tuomo T. J., Havulinna Aki S., Lindbohm Joni V., Ahola-Olli Ari, Kurki Mitja, Karjalainen Juha, Palta Priit, Neale Benjamin M., Daly Mark, Salomaa Veikko, Palotie Aarno, Widén Elisabeth, Ripatti Samuli; FinnGen
(A1 Refereed original research article in a scientific journal)
Polygenic Hyperlipidemias and Coronary Artery Disease Risk (2020)
- Circulation: Genomic and Precision Medicine
Ripatti P, Ramo JT, Mars NJ, Fu Y, Lin JK, Soderlund S, Benner C, Surakka I, Kiiskinen T, Havulinna AS, Palta P, Freimer NB, Widen E, Salomaa V, Tukiainen T, Pirinen M, Palotie A, Taskinen MR, Ripatti S; and on behalf of FinnGen
(A1 Refereed original research article in a scientific journal)
Protein synthesis is suppressed in sporadic and familial Parkinson's disease by LRRK2 (2020)
- FASEB Journal
Prasannakumar Deshpande, Dani Flinkman, Ye Hong, Elena Goltseva, Valentina Siino, Lihua Sun, Sirkku Peltonen, Laura L. Elo, Valtteri Kaasinen, Peter James, Eleanor T. Coffey
(A1 Refereed original research article in a scientific journal)
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma (2020)
- PLoS Genetics
Tanigawa Yosuke, Wainberg Michael, Karjalainen Juha, Kiiskinen Tuomo, Venkataraman Guhan, Lemmelä Susanna, Turunen Joni A, Graham Robert R, Havulinna Aki S, Perola Markus, Palotie Aarno, Daly Mark J, Rivas Manuel A; FinnGen
(A1 Refereed original research article in a scientific journal)
Reply to Kratz et al. (2020)
- European Journal of Human Genetics
Frebourg Thierry, Lagercrantz Svetlana Bajalica, Oliveira Carla, Magenheim Rita, Evans D Gareth; the European Reference Network GENTURIS
(B1 Non-refereed article in a scientific journal)
The role of polygenic risk and susceptibility genes in breast cancer over the course of life (2020)
- Nature Communications
Mars N, Widen E, Kerminen S, Meretoja T, Pirinen M, Parolo PD, Palta P; FinnGen, Havulinna A, Palotie A, Kaprio J, Joensuu H, Daly M, Ripatti S
(A1 Refereed original research article in a scientific journal)
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan (2020)
- Nature Medicine
Sakaue S, Kanai M, Karjalainen J, Akiyama M, Kurki M, Matoba N, Takahashi A, Hirata M, Kubo M, Matsuda K, Murakami Y, Daly MJ, Kamatani Y, Okada Y
(A1 Refereed original research article in a scientific journal)
Validation of Psoriasis Diagnoses Recorded in Finnish Biobanks (2020)
- Acta Dermato-Venereologica
Haverinen Suvi, Vihervaara Armi, Löyttyniemi Eliisa, Peltonen Sirkku, Koulu Leena, Tasanen Kaisa, Huilaja Laura; FinnGen investigators
(A1 Refereed original research article in a scientific journal)
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2019)
- Familial Cancer
Vos JR, Giepmans L, Rohl C, Geverink N, Hoogerbrugge N, Ligtenberg M, Kets M, Sijmons R, Evans G, Woodward E, Tischkowitz M, Maher E, Steinke-Lange V, Holinski-Feder E, Frebourg T, Houdayer C, Ferner RE, Lubinski J, Ertmanska K, Lagercrantz SB, Tham E, Guillermo IB, Capella G, Vidal JB, Lazaro C, Balmana J, Bours V, Legius E, Wolkenstein P, Melegh B, Oliveira C, Teixeira M, Poppe B, Claes K, Hernandez HS, Aretz S, Spier I, Oostenbrink R, Krajc M, Blatnik A, Schrock E, Peltonen S, Hietala M; on behalf of ERN GENTURIS
(B1 Non-refereed article in a scientific journal)