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Large-scale targete...
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Article/chapterEnglish2020
Publisher, publication year, extent ...
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2020-10-01
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Springer Science and Business Media LLC,2020
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:144901623
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http://kipublications.ki.se/Default.aspx?queryparsed=id:144901623URI
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https://doi.org/10.1038/s41467-020-18723-yDOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
Added entries (persons, corporate bodies, meetings, titles ...)
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Hoekzema, K
(author)
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Vecchio, D
(author)
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Wu, HD
(author)
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Sulovari, A
(author)
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Coe, BP
(author)
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Gillentine, MA
(author)
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Wilfert, AB
(author)
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Perez-Jurado, LA
(author)
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Kvarnung, MKarolinska Institutet
(author)
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Sleyp, Y
(author)
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Earl, RK
(author)
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Rosenfeld, JA
(author)
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Geisheker, MR
(author)
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Han, L
(author)
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Du, B
(author)
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Barnett, C
(author)
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Thompson, E
(author)
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Shaw, M
(author)
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Carroll, R
(author)
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Friend, K
(author)
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Catford, R
(author)
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Palmer, EE
(author)
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Zou, XB
(author)
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Ou, JJ
(author)
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Li, HH
(author)
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Guo, H
(author)
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Gerdts, J
(author)
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Avola, E
(author)
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Calabrese, G
(author)
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Elia, M
(author)
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Greco, D
(author)
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Lindstrand, AKarolinska Institutet
(author)
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Nordgren, AKarolinska Institutet
(author)
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Anderlid, BMKarolinska Institutet
(author)
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Vandeweyer, G
(author)
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Van Dijck, A
(author)
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Van der Aa, N
(author)
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McKenna, B
(author)
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Hancarova, M
(author)
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Bendova, S
(author)
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Havlovicova, M
(author)
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Malerba, G
(author)
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Dalla Bernardina, B
(author)
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Muglia, P
(author)
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van Haeringen, A
(author)
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Hoffer, MJV
(author)
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Franke, B
(author)
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Cappuccio, G
(author)
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Delatycki, M
(author)
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Lockhart, PJ
(author)
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Manning, MA
(author)
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Liu, PF
(author)
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Scheffer, IE
(author)
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Brunetti-Pierri, N
(author)
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Rommelse, N
(author)
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Amaral, DG
(author)
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Santen, GWE
(author)
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Trabetti, E
(author)
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Sedlacek, Z
(author)
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Michaelson, JJ
(author)
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Pierce, K
(author)
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Courchesne, E
(author)
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Kooy, RF
(author)
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Nordenskjold, MKarolinska Institutet
(author)
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Romano, C
(author)
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Peeters, H
(author)
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Bernier, RA
(author)
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Gecz, J
(author)
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Xia, K
(author)
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Eichler, EE
(author)
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Karolinska Institutet
(creator_code:org_t)
Related titles
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In:Nature communications: Springer Science and Business Media LLC11:1, s. 4932-2041-1723
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- By the author/editor
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Wang, T
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Hoekzema, K
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Vecchio, D
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Wu, HD
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Sulovari, A
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Coe, BP
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show more...
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Gillentine, MA
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Wilfert, AB
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Perez-Jurado, LA
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Kvarnung, M
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Sleyp, Y
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Earl, RK
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Rosenfeld, JA
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Geisheker, MR
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Han, L
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Du, B
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Barnett, C
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Thompson, E
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Shaw, M
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Carroll, R
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Friend, K
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Catford, R
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Palmer, EE
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Zou, XB
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Ou, JJ
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Li, HH
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Guo, H
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Gerdts, J
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Avola, E
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Calabrese, G
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Elia, M
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Greco, D
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Lindstrand, A
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Nordgren, A
-
Anderlid, BM
-
Vandeweyer, G
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Van Dijck, A
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Van der Aa, N
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McKenna, B
-
Hancarova, M
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Bendova, S
-
Havlovicova, M
-
Malerba, G
-
Dalla Bernardina ...
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Muglia, P
-
van Haeringen, A
-
Hoffer, MJV
-
Franke, B
-
Cappuccio, G
-
Delatycki, M
-
Lockhart, PJ
-
Manning, MA
-
Liu, PF
-
Scheffer, IE
-
Brunetti-Pierri, ...
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Rommelse, N
-
Amaral, DG
-
Santen, GWE
-
Trabetti, E
-
Sedlacek, Z
-
Michaelson, JJ
-
Pierce, K
-
Courchesne, E
-
Kooy, RF
-
Nordenskjold, M
-
Romano, C
-
Peeters, H
-
Bernier, RA
-
Gecz, J
-
Xia, K
-
Eichler, EE
-
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Nature communica ...
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Karolinska Institutet