Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the geneti...

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Dades bibliogràfiques
Publicat a:Hum Genet
Autors principals: Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2021
Matèries:
Original Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8197721/
https://ncbi.nlm.nih.gov/pubmed/33710394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-021-02268-1
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