Maria Haanpää
 


maria.k.haanpaa@utu.fi

Areas of expertise
Expertese

Publications
  
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  • At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson’s disease  (2026)  
    • BMJ neurology open
     Oikarinen, Niko; Ottela, Emma; Rönkä, Jaana; Haanpää, Maria; Niemelä, Solja; Lees, Andrew John; Kaasinen, Valtteri
    (    A1 Refereed original research article in a scientific journal)


  • Next-Generation Genetic Testing in the Diagnostics of Neurological Disease in Southwest Finland in 2010-2021: A Register-Based Study  (2026)  
    • Acta Neurologica Scandinavica
     Loukiainen, Saga; Haanpää, Maria K.; Martikainen, Mika H.
    (    A1 Refereed original research article in a scientific journal)


  • Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants  (2025)  
    • Acta Ophthalmologica
     Lähteenoja, Laura; Palosaari, Tapani; Tiirikka, Timo; Haanpää, Maria; Moilanen, Jukka; Falck, Aura; Rahikkala, Elisa
    (    A1 Refereed original research article in a scientific journal)


  • Geenitestit auttavat selvittämään kuulovian syyn  (2025)  
    • Lääkärilehti
     Rahikkala, Elisa; Muittari, Ella; Toivonen, Minna; Pohjola, Pia; Willberg, Tytti; Haanpää, Maria
    (    A2 Refereed review article in a scientific journal )


  • Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of a GATA4 Pathogenic Variant  (2025)  
    • Pediatric and Developmental Pathology
     Tulonen, Nea; Tallus, Jussi; Kaprio, Heidi; Laine, Jukka; Mattila, Mirjami; Haanpää, Maria; Keskinen, Sini
    (    A1 Refereed original research article in a scientific journal)


  • Recommendations for bioinformatics in clinical practice  (2025)  
    • Genome Medicine
     Lavrichenko, Ksenia; Engdal, Emilie Sofie; Marvig, Rasmus L.; Jemt, Anders; Vignes, Jone Marius; Almusa, Henrikki; Bilgrav Saether, Kristine; Briem, Eiríkur; Caceres, Eva; Elvarsdóttir, Edda María; Gíslason, Magnús Halldór; Haanpää, Maria K.; Henmyr, Viktor; Hotakainen, Ronja; Kaasinen, Eevi; Kanninga, Roan; Khan, Sofia; Lie-Nielsen, Mary Gertrude; Busk Madsen, Majbritt; Mähler, Niklas; Maqbool, Khurram; Neethiraj, Ramprasad; Nyrén, Karl; Paavola, Minna; Pruisscher, Peter; Sheng, Ying; Singh, Ashish Kumar; Srivastava, Aashish; Stautland, Thomas K.; Andreasen, Daniel T.; ten Berk de Boer, Esmee; Vang, Søren; Wirta, Valtteri; Bagger, Frederik Otzen
    (    A2 Refereed review article in a scientific journal )


  • Comparison of the ABC and ACMG systems for variant classification  (2024)   Houge, G.; Bratland, E.; Aukrust, I.; Tveten, K.; Žukauskaitė, G.; Sansovic, I.; Brea-Fernández, A. J.; Mayer, K.; Paakkola, T.; McKenna, C.; Wright, W.; Markovic, M. K.; Lildballe, D. L.; Konecny, M.; Smol, T.; Alhopuro, P.; Gouttenoire, E. A.; Obeid, K.; Todorova, A.; Jankovic, M.; Lubieniecka, J. M.; Stojiljkovic, M.; Buisine, M. P.; Haukanes, B. I.; Lorans, M.; Roomere, H.; Petit, F. M.; Haanpää, M. K.; Beneteau, C.; Pérez, B.; Plaseska-Karanfilska, D.; Rath, M.; Fuhrmann, N.; Ferreira, B. I.; Stephanou, C.; Sjursen, W.; Maver, A.; Rouzier, C.; Chirita-Emandi, A.; Gonçalves, J.; Kuek, W. C. D.; Broly, M.; Haer-Wigman, L.; Thong, M. K.; Tae, S. K.; Hyblova, M.; den Dunnen, J. T.; Laner, A.
    (    A1 Refereed original research article in a scientific journal)


  • Developmental epileptic encephalopathy in DLG4-related synaptopathy  (2024)  
    • Epilepsia
     Kassabian Benedetta, Levy Amanda M., Gardella Elena, Aledo-Serrano Angel, Ananth Amitha L., Brea-Fernández Alejandro J., Caumes Roseline, Chatron Nicolas, Dainelli Alice, De Wachter Matthias, Denommé-Pichon Anne-Sophie, Dye Thomas J., Fazzi Elisa, Felt Roxanne, Fernández-Jaén Alberto, Fernández-Prieto Montserrat, Gantz Emily, Gasperowicz Piotr, Gil-Nagel Antonio, Gómez-Andrés David, Greiner Hansel M., Guerrini Renzo, Haanpää Maria K., Helin Minttu, Hoyer Juliane, Hurst Anna C. E., Kallish Staci, Karkare Shefali N., Khan Amjad, Kleinendorst Lotte, Koch Johannes, Kothare Sanjeev V., Koudijs Suzanna V., Lagae Lieven, Lakeman Phillis, Leppig Kathleen A., Lesca Gaetan, Lopergolo Diego, Lusk Laina, Mackenzie Alex, Mei Davide, Møller Rikke S., Pereira Elaine M., Platzer Konrad, Quelin Chloe, Revah-Politi Anya, Rheims Sylvain, Rodríguez-Palmero Agustí, Rossi Andrea, Santorelli Filippo, Seinfeld Syndi, Sell Erick, Stephenson Donna, Szczaluba Krzysztof, Trinka Eugen, Umair Muhammad, Van Esch Hilde, van Haelst Mieke M., Veenma Danielle C. M., Weber Sacha, Weckhuysen Sarah, Zacher Pia, Tümer Zeynep, Rubboli Guido
    (    A1 Refereed original research article in a scientific journal)


  • Expanding the phenotype of UPF3B-related disorder: Case reports and literature review  (2024)  
    • American Journal of Medical Genetics Part A
     Romano, Ferruccio; Haanpää, Maria K.; Pomianowski, Pawel; Peraino, Amanda Rose; Pollard, John R.; Di Feo, Maria Francesca; Traverso, Monica; Severino, Mariasavina; Derchi, Maria; Henzen, Edoardo; Zara, Federico; Faravelli, Francesca; Capra, Valeria; Scala, Marcello
    (    A2 Refereed review article in a scientific journal )


  • Non-invasiivinen prenataalitesti (NIPT)  (2024)  
    • Kliin lab
     Nurmi, Miina; Haanpää, Maria; Pohjola, Pia
    (    D1 Article in a professional journal)



Last updated on 08/03/2026 01:16:30 AM