Maria K Haanpää (Maria Haanpää)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Journal of clinical medicine

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG (2024)
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG 32 (7) (2024)
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG 32 (7) (2024)
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG 32 (7) (2024)
Minna Kraatari, Maria K Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S Moilanen, Sanna Häkli, Elisa J Rahikkala
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants. Journal of clinical medicine 11 (7) (2022)
Pedro A Sanchez-Lara, Katheryn Lynn Grand, Maria K Haanpää, Cynthia J Curry, Raymond Yu-Jeang Wang, Fatih Ezgü, Catherine M Rose, Deepika D'Cunha Burkardt, Robert L Conway, Anju Relan, John C Carey
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr. American journal of medical genetics. Part A 185 (9) (2021)
Maria Arvio, Maria K Haanpää, Pia Pohjola, Jaana Lähdetie
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome. Clinical case reports 9 (8) (2021)
Maria K Haanpää, Bobby George Ng, Natalie M Gallant, Kathryn E Singh, Candida Brown, Virginia E Kimonis, Hudson H Freeze, Eric A Muller
ALG11-CDG syndrome: Expanding the phenotype. American journal of medical genetics. Part A 179 (3) (2019)
Justin Chen, Maria K Haanpää, Joshua J Gruber, Natalie Jäger, James M Ford, Michael P Snyder
High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients. Clinical cancer research : an official journal of the American Association for Cancer Research 25 (17) (2019)
Maria K Haanpää, Helena Schlecht, Gauri Batra, Jill Clayton-Smith, Sofia Douzgou
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. American journal of medical genetics. Part A 173 (4) (2017)