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

doi:10.1007/s00439-021-02268-1

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

Human genetics - 1 Jul 2021

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

Abstract excerpt

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 genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID...

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PMID: 33710394
DOI: 10.1007/s00439-021-02268-1
PMCID: PMC8197721

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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