Maria Haanpää
Areas of expertise
Expertese
Publications
- 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)
