Maria
Haanpää

Institute of Biomedicine

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An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants (2026)

European Journal of Human Genetics
Godfrey, Molly; Levy, Michael A.; Campbell, Christopher; Demain, Leigh; Jenkinson, Sarah; Hilton, Sarah; Almoguera, Berta; Balasubramanian, Meena; Bijlsma, Emilia K.; Blanco-Kelly, Fiona; Burkitt Wright, Emma M. M.; Cappuccio, Gerarda; Chandler, Kate E.; Devriendt, Koen; Diaz de Bustamante, Aranzazu; Haanpää, Maria K.; Hörnig, Carolin; Jones, Elizabeth A.; Kocagil, Sinem; Koillinen, Hannele; Lakshmi Narayanan, Dhanya; Leonardi, Emanuela; Madhu, Rajesh; Majethia, Purvi; Murgia, Alessandra; Rosser, Elisabeth; Schuelke, Markus; Shukla, Anju; Soengas-Gonda, Emma; Stewart, Sarah; Sznajer, Yves; Tahsin Swafiri, Saoud; Venancio, Maria Margarida; Guerrini, Renzo; Montomoli, Martino; Vetro, Annalisa; Wright, Thomas; Gokhale, David; Sadikovic, Bekim; Douzgou Houge, Sofia; Banka, Siddharth
(A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä )

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries (2026)

European Journal of Human Genetics
Kiljańczyk, Milena; Daneberga, Zanda; Tooming, Mikk; Urbańczyk, Katarzyna; Pöyhönen, Minna; Kahre, Tiina; Foretova, Lenka; Tham, Emma; Milagre, Tamara; Melegh, Béla; Haanpää, Maria K.; Blatnik, Ana; Wimmer, Katharina; de Putter, Robin; Wadt, Karin; Houdayer, Claude; Holinski-Feder, Elke; Kattamis, Antonis; Klink, Barbara; Høberg-Vetti, Hildegunn; Blanco, Guillermo Ignacio; Hoogerbrugge, Nicoline; Lubiński, Jan
(A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä )

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals (2022)

Frontiers in cell and developmental biology
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Natural history of KBG syndrome in a large European cohort (2022)

Human Molecular Genetics
Loberti Lorenzo, Bruno Lucia Pia, Granata Stefania, Doddato Gabriella, Resciniti Sara, Fava Francesca, Carullo Michele, Rahikkala Elisa, Jouret Guillaume, Menke Leonie A., Lederer Damien, Vrielynck Pascal, Ryba Lukás, Brunetti-Pierri Nicola, Lasa-Aranzasti Amaia, Cueto-González Anna Maria, Trujillano Laura, Valenzuela Irene, Tizzano Eduardo F., Spinelli Alessandro Mauro, Bruno Irene, Currò Aurora, Stanzial Franco, Benedicenti Francesco, Lopergolo Diego, Santorelli Filippo Maria, Aristidou Constantia, Tanteles George A., Maystadt Isabelle, Tkemaladze Tinatin, Reimand Tiia, Lokke Helen, Õunap Katrin, Haanpää Maria K., Holubová Andrea, Zoubková Veronika, Schwarz Martin, Zordania Riina, Muru Kai, Roht Laura, Tihveräinen Annika, Teek Rita, Thomson Ulvi, Atallah Isis, Superti-Furga Andrea, Buoni Sabrina, Canitano Roberto, Scandurra Valeria, Rossetti Annalisa, Grosso Salvatore, Battini Roberta, Baldassarri Margherita, Mencarelli Maria Antonietta, Lo Rizzo Caterina, Bruttini Mirella, Mari Francesca, Ariani Francesca, Renieri Alessandra, Pinto Anna Maria
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement (2022)

Genetics in Medicine
Micale Lucia, Morlino Silvia, Carbone Annalucia, Carissimo Annamaria, Nardella Grazia, Fusco Carmela, Palumbo Orazio, Schirizzi Annalisa, Russo Federica, Mazzoccoli Gianluigi, Breckpot Jeroen, De Luca Chiara, Ferraris Alessandro, Giunta Cecilia, Grammatico Paola, Haanpää Maria K, Mancano Giorgia, Forzano Giulia, Cacchiarelli Davide, Van Esch Hilde, Callewaert Bert, Rohrbach Marianne, Castori Marco
(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

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