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

Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N. Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D. Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M. Nouel-SaiedDiana M. Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E. Posey, Suzanne M. Leal, Isabelle Schrauwen

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalHuman Genetics
Volume140
Issue number7
Pages (from-to)1011-1029
Number of pages19
ISSN0340-6717
DOIs
Publication statusPublished - Jul 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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