Jukka S Moilanen (J S Moilanen, Jukka Moilanen)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Dna Methylation

Ejection Fraction

Top Venues

European journal of human genetics : EJHG

Clinical genetics

Developmental medicine and child neurology

Scandinavian journal of caring sciences

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

Publications

Jaakko H Oikarainen, Oula A Knuutinen, Salla M Kangas, Elisa J Rahikkala, Tytti M-L Pokka, Jukka S Moilanen, Reetta M Hinttala, Päivi M Vieira, Johanna M Uusimaa, Maria H Suo-Palosaari
Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities. Developmental medicine and child neurology (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Laura Lähteenoja, Tapani Palosaari, Timo Tiirikka, Maria Haanpää, Jukka S Moilanen, Aura Falck, Elisa J Rahikkala
Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants. Acta ophthalmologica (2024)
Lea Urpa, Mitja I Kurki, Elisa J Rahikkala, Eija Hämäläinen, Veikko V Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi M Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. European journal of human genetics : EJHG 32 (5) (2024)
Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka S Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. PLoS genetics 19 (8) (2023)
Elisa J Rahikkala, Lea Urpa, Bishwa R Ghimire, Hande Topa, Mitja I Kurki, Maryna Koskela, Mikko Airavaara, Eija Hämäläinen, Katri Pylkäs, Jarmo Körkkö, Helena Savolainen, Anu Suoranta, Aida Maria Bertoli-Avella, Arndt Rolfs, Pirkko Mattila, Mark Daly, Aarno Palotie, Olli Pietiläinen, Jukka S Moilanen, Outi Kuismin
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. European journal of human genetics : EJHG 30 (5) (2022)
Tekla Harju, Benedicte Bang, Vasilios Zachariadis, Fulya Taylan, Jukka S Moilanen, Merja Möttönen, Carl Inge Edvard Smith, Arja H Harila-Saari, Riitta Niinimäki, Ann Nordgren
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. Blood advances 3 (18) (2020)
Sanna-Maria Nurmi, Arja Halkoaho, Jukka S Moilanen, Anne M Remes, Eino Solje
The ethical implications of genetic testing in neurodegenerative diseases: A systematic review. Scandinavian journal of caring sciences 35 (4) (2020)
Anna Norberg, Anna Rosén, Klas Raaschou-Jensen, Lars Kjeldsen, Jukka S Moilanen, Ylva Paulsson-Karlsson, Panagiotis Baliakas, Olli Lohi, Aymen Ahmed, Astrid O Kittang, Pär Larsson, Göran Roos, Sofie Degerman, Magnus Hultdin
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. European journal of human genetics : EJHG 26 (6) (2018)
Teija Paakkola, K Vuopala, H Kokkonen, J Ignatius, M Valkama, Jukka S Moilanen, S Fahiminiya, J Majewski, R Hinttala, J Uusimaa
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. Clinical genetics 93 (1) (2017)
Curtis R Coughlin, Michael A Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez-Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon-Swindell, Ana M Brás-Goldberg, Elisa Rahikkala, Jukka S Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo-Alonso, Celia Pérez-Cerdá, Magdalena Ugarte, Christine Vianey-Saban, Gunter H Scharer, Johan L K Van Hove
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genetics in medicine : official journal of the American College of Medical Genetics 19 (1) (2016)
A K Philips, M Pinelli, C I de Bie, A Mustonen, T Määttä, H H Arts, K Wu, R Roepman, Jukka S Moilanen, S Raza, T Varilo, G Scala, S Cocozza, C Gilissen, K L I van Gassen, I Järvelä
Identification of C12orf4 as a gene for autosomal recessive intellectual disability. Clinical genetics 91 (1) (2016)