Sirkku
Peltonen
Dermatology and Venereology
Docent, Faculty of Medicine

Contact

Kiinamyllynkatu 4-8
20520
Turku

Publications

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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)
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

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
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

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
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

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
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))