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NARA Subscribed1
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Springer Nature1
Journal
Human Genetics1
Publication Year
20211
Angad Jolly results 1 · Newest (Page 1/1, per page 25)
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Author: Angad Jolly ×Clear All Filters
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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 7 · Springer
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-Saied; Diana M. Cornejo-Sanchez; Lorida Llaci; James R. Lupski; Jennifer E. Posey; Suzanne M. Leal; Isabelle Schrauwen
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 were analyzed u...
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