Maria Haanpää
Areas of expertise
Expertese
Publications
- Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants (2025) 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) 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) 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)
- European Journal of Human Genetics
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) 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) Nurmi, Miina; Haanpää, Maria; Pohjola, Pia
(D1 Article in a professional journal)
- Perinnöllinen haimasyöpäalttius – kansallinen seurantasuositus (2024) Keskinen, Sini; Ahola, Reea; Aittomäki, Kristiina; Arkkila, Perttu; Haanpää, Maria; Kuismin, Outi; Lammi, Pekka; Louhimo, Johanna; Mäkinen, Marika; Nortunen, Minna; Pöyhönen, Minna; Rinta-Kiikka, Irina; Kankuri-Tammilehto, Minna; Kauhanen, Saila
(A2 Refereed review article in a scientific journal )
- Rinnakkaissekventointi diagnostisena työkaluna (2024) Haanpää, Maria; Koskela, Sanna; Paavola, Minna
(D1 Article in a professional journal)
- Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles (2024) Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
(A1 Refereed original research article in a scientific journal)
- Jansen de Vries syndrome: Report of four new patients and review of the literature (2023)
- European Journal of Medical Genetics
Tuiskula Anna, Rahikkala Elisa, Kero Andreina, Haanpää Maria K., Avela Kristiina
(A1 Refereed original research article in a scientific journal)
- PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals (2023)
- Frontiers in cell and developmental biology
Kampmeier Antje, Leitão Elsa, Parenti Ilaria, Beygo Jasmin, Depienne Christel, Bramswig Nuria C, Hsieh Tzung-Chien, Afenjar Alexandra, Beck-Wödl Stefanie, Grasshoff Ute, Haack Tobias B, Bijlsma Emilia K, Ruivenkamp Claudia, Lausberg Eva, Elbracht Miriam, Haanpää Maria K, Koillinen Hannele, Heinrich Uwe, Rost Imma, Jamra Rami Abou, Popp Denny, Koch-Hogrebe Margarete, Rostasy Kevin, López-González Vanessa, Sanchez-Soler Maria José, Macedo Catarina, Schmetz Ariane, Steinborn Carmen, Weidensee Sabine, Lesmann Hellen, Marbach Felix, Caro Pilar, Schaaf Christian P, Krawitz Peter, Wieczorek Dagmar, Kaiser Frank J, Kuechler Alma
(A1 Refereed original research article in a scientific journal)
- Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease (2023)
- Pediatric and Developmental Pathology
Keskinen Sini, Paakkola Teija, Mattila Mirjami, Hietala Marja, Koillinen Hannele, Laine Jukka, Haanpää Maria K
(A1 Refereed original research article in a scientific journal)
- Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome (2023) Rahikkala Elisa, Väisänen Taneli, Ojala Liisa, Pohjola Pia, Toivonen Minna, Parkkola Riitta, Haanpää Maria K.
(A2 Refereed review article in a scientific journal )
- Suuren riskin rintasyöpäalttiuden seuranta on geenikohtaista (2023) Aittomäki Kristiina, Aaltonen Kirsimari, Kuismin Outi, Kurra Venla, Mäkinen Marika, Pöyhönen Minna, Rajala Katri, Toiminen Heidi, Haanpää Maria K, Kankuri-Tammilehto Minna
(A2 Refereed review article in a scientific journal )
- Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants (2022)
- Journal of Clinical Medicine
Kraatari-Tiri Minna, Haanpää Maria K., Willberg Tytti, Pohjola Pia, Keski-Filppula Riikka, Kuismin Outi, Moilanen Jukka S., Häkli Sanna, Rahikkala Elisa
(A1 Refereed original research article in a scientific journal)
- Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings (2022)
- Journal of Inherited Metabolic Disease
Vieira Päivi, Nagy Irina I., Rahikkala Elisa, Väisänen Marja-Leena, Latva Katariina, Kaunisto Kari, Valmari Pekka, Keski-Filppula Riikka, Haanpää Maria K., Sidoroff Virpi, Miettinen Päivi J., Arkkola Tuula, Ojaniemi Marja, Nuutinen Matti, Uusimaa Johanna, Myllynen Päivi
(A1 Refereed original research article in a scientific journal)
- Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome (2022)
- European Journal of Medical Genetics
Helenius Kjell, Parkkola Riitta, Arola Anita, Peltola Ville, Haanpää Maria K
(A1 Refereed original research article in a scientific journal)
- Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022) Paakkola Teija, Keskinen Sini, Pohjola Pia, Toivonen Minna, Ridanpää Maaret, Hietala Marja, Haanpää Maria K.
(A2 Refereed review article in a scientific journal )
