Cargando…
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriched for mild ID (>50%) from a population isolate of Finland....
Autores principales: | Kurki, Mitja I., Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S., Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J., Palotie, Aarno |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345990/ https://www.ncbi.nlm.nih.gov/pubmed/30679432 http://dx.doi.org/10.1038/s41467-018-08262-y |
Ejemplares similares
-
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
por: Kraatari-Tiri, Minna, et al.
Publicado: (2022) -
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
por: Rahikkala, Elisa, et al.
Publicado: (2022) -
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants
por: Saarentaus, Elmo Christian, et al.
Publicado: (2021) -
Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation
por: Saarentaus, Elmo C., et al.
Publicado: (2023) -
Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition
por: Koivuluoma, Susanna, et al.
Publicado: (2019)