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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 09495naa a2202701 4500 | |
| 001 | oai:gup.ub.gu.se/255452 | |
| 003 | SwePub | |
| 008 | 240528s2017 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:136091592 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2554522 URI |
| 024 | 7 | a https://doi.org/10.1038/ng.38632 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1360915922 URI |
| 040 | a (SwePub)gud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Weiner, D. J.4 aut |
| 245 | 1 0 | a Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders |
| 264 | c 2017-05-15 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2017 |
| 520 | a Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a genome-wide association | |
| 653 | a de-novo | |
| 653 | a genetic risk | |
| 653 | a general-population | |
| 653 | a variants | |
| 653 | a mutations | |
| 653 | a insights | |
| 653 | a disease | |
| 653 | a biology | |
| 653 | a loci | |
| 653 | a Genetics & Heredity | |
| 700 | 1 | a Wigdor, E. M.4 aut |
| 700 | 1 | a Ripke, S.4 aut |
| 700 | 1 | a Walters, R. K.4 aut |
| 700 | 1 | a Kosmicki, J. A.4 aut |
| 700 | 1 | a Grove, J.4 aut |
| 700 | 1 | a Samocha, K. E.4 aut |
| 700 | 1 | a Goldstein, J. I.4 aut |
| 700 | 1 | a Okbay, A.4 aut |
| 700 | 1 | a Bybjerg-Grauholm, J.4 aut |
| 700 | 1 | a Werge, T.4 aut |
| 700 | 1 | a Hougaard, D. M.4 aut |
| 700 | 1 | a Taylor, J.4 aut |
| 700 | 1 | a Skuse, D.4 aut |
| 700 | 1 | a Devlin, B.4 aut |
| 700 | 1 | a Anney, R.4 aut |
| 700 | 1 | a Sanders, S. J.u Karolinska Institutet4 aut |
| 700 | 1 | a Bishop, S.4 aut |
| 700 | 1 | a Mortensen, P. B.4 aut |
| 700 | 1 | a Borglum, A. D.4 aut |
| 700 | 1 | a Smith, G. D.4 aut |
| 700 | 1 | a Daly, M. J.4 aut |
| 700 | 1 | a Robinson, E. B.4 aut |
| 700 | 1 | a Baekvad-Hansen, M.4 aut |
| 700 | 1 | a Dumont, A.4 aut |
| 700 | 1 | a Hansen, C.4 aut |
| 700 | 1 | a Hansen, T. F.4 aut |
| 700 | 1 | a Howrigan, D.4 aut |
| 700 | 1 | a Mattheisen, M.u Karolinska Institutet4 aut |
| 700 | 1 | a Moran, J.4 aut |
| 700 | 1 | a Mors, O.4 aut |
| 700 | 1 | a Nordentoft, M.4 aut |
| 700 | 1 | a Norgaard-Pedersen, B.4 aut |
| 700 | 1 | a Poterba, T.4 aut |
| 700 | 1 | a Poulsen, J.4 aut |
| 700 | 1 | a Stevens, C.4 aut |
| 700 | 1 | a Anttila, V.4 aut |
| 700 | 1 | a Holmans, P.4 aut |
| 700 | 1 | a Huang, H. L.4 aut |
| 700 | 1 | a Klei, L.4 aut |
| 700 | 1 | a Lee, P. H.4 aut |
| 700 | 1 | a Medland, S. E.4 aut |
| 700 | 1 | a Neale, B.4 aut |
| 700 | 1 | a Weiss, L. A.4 aut |
| 700 | 1 | a Zwaigenbaum, L.4 aut |
| 700 | 1 | a Yu, T. W.4 aut |
| 700 | 1 | a Wittemeyer, K.4 aut |
| 700 | 1 | a Willsey, A. J.4 aut |
| 700 | 1 | a Wijsman, E. M.4 aut |
| 700 | 1 | a Wassink, T. H.4 aut |
| 700 | 1 | a Waltes, R.4 aut |
| 700 | 1 | a Walsh, C. A.4 aut |
| 700 | 1 | a Wallace, S.4 aut |
| 700 | 1 | a Vorstman, J. A. S.4 aut |
| 700 | 1 | a Vieland, V. J.4 aut |
| 700 | 1 | a Vicente, A. M.4 aut |
| 700 | 1 | a van Engeland, H.4 aut |
| 700 | 1 | a Tsang, K.4 aut |
| 700 | 1 | a Thompson, A. P.4 aut |
| 700 | 1 | a Szatmari, P.4 aut |
| 700 | 1 | a Svantesson, O.4 aut |
| 700 | 1 | a Steinberg, S.u Karolinska Institutet4 aut |
| 700 | 1 | a Stefansson, K.4 aut |
| 700 | 1 | a Stefansson, H.4 aut |
| 700 | 1 | a State, M. W.4 aut |
| 700 | 1 | a Soorya, L.4 aut |
| 700 | 1 | a Silagadze, T.4 aut |
| 700 | 1 | a Scherer, S. W.4 aut |
| 700 | 1 | a Schellenberg, G. D.4 aut |
| 700 | 1 | a Sandin, S.4 aut |
| 700 | 1 | a Saemundsen, E.4 aut |
| 700 | 1 | a Rouleau, G. A.4 aut |
| 700 | 1 | a Roge, B.4 aut |
| 700 | 1 | a Roeder, K.4 aut |
| 700 | 1 | a Roberts, W.4 aut |
| 700 | 1 | a Reichert, J.4 aut |
| 700 | 1 | a Reichenberg, A.4 aut |
| 700 | 1 | a Rehnstrom, K.4 aut |
| 700 | 1 | a Regan, R.4 aut |
| 700 | 1 | a Poustka, F.4 aut |
| 700 | 1 | a Poultney, C. S.4 aut |
| 700 | 1 | a Piven, J.4 aut |
| 700 | 1 | a Pinto, D.4 aut |
| 700 | 1 | a Pericak-Vance, M. A.4 aut |
| 700 | 1 | a Pejovic-Milovancevic, M.4 aut |
| 700 | 1 | a Pedersen, M. G.4 aut |
| 700 | 1 | a Pedersen, C. B.4 aut |
| 700 | 1 | a Paterson, A. D.4 aut |
| 700 | 1 | a Parr, J. R.4 aut |
| 700 | 1 | a Pagnamenta, A. T.4 aut |
| 700 | 1 | a Oliveira, G.4 aut |
| 700 | 1 | a Nurnberger, J. I.4 aut |
| 700 | 1 | a Nordentoft, M.4 aut |
| 700 | 1 | a Murtha, M. T.4 aut |
| 700 | 1 | a Mouga, S.4 aut |
| 700 | 1 | a Mors, O.4 aut |
| 700 | 1 | a Morrow, E. M.4 aut |
| 700 | 1 | a De Luca, D. M.4 aut |
| 700 | 1 | a Monaco, A. P.4 aut |
| 700 | 1 | a Minshew, N.4 aut |
| 700 | 1 | a Merikangas, A.4 aut |
| 700 | 1 | a McMahon, W. M.4 aut |
| 700 | 1 | a McGrew, S. G.4 aut |
| 700 | 1 | a Mattheisen, M.4 aut |
| 700 | 1 | a Martsenkovsky, I.4 aut |
| 700 | 1 | a Martin, D. M.4 aut |
| 700 | 1 | a Mane, S. M.4 aut |
| 700 | 1 | a Magnusson, P.4 aut |
| 700 | 1 | a Magalhaes, T.4 aut |
| 700 | 1 | a Maestrini, E.4 aut |
| 700 | 1 | a Lowe, J. K.4 aut |
| 700 | 1 | a Lord, C.4 aut |
| 700 | 1 | a Levitt, P.4 aut |
| 700 | 1 | a Martin, C. L.4 aut |
| 700 | 1 | a Ledbetter, D. H.4 aut |
| 700 | 1 | a Leboyer, M.4 aut |
| 700 | 1 | a Le Couteur, A. S.4 aut |
| 700 | 1 | a Ladd-Acosta, C.4 aut |
| 700 | 1 | a Kolevzon, A.4 aut |
| 700 | 1 | a Klauck, S. M.4 aut |
| 700 | 1 | a Jacob, S.4 aut |
| 700 | 1 | a Iliadou, B.4 aut |
| 700 | 1 | a Hultman, C. M.4 aut |
| 700 | 1 | a Hertz-Picciotto, I.4 aut |
| 700 | 1 | a Hendren, R.4 aut |
| 700 | 1 | a Hansen, C. S.4 aut |
| 700 | 1 | a Haines, J. L.4 aut |
| 700 | 1 | a Guter, S. J.4 aut |
| 700 | 1 | a Grice, D. E.4 aut |
| 700 | 1 | a Green, J. M.4 aut |
| 700 | 1 | a Green, A.4 aut |
| 700 | 1 | a Goldberg, A. P.4 aut |
| 700 | 1 | a Gillberg, Christopher,d 1950u Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre4 aut0 (Swepub:gu)xgilch |
| 700 | 1 | a Gilbert, J.4 aut |
| 700 | 1 | a Gallagher, L.4 aut |
| 700 | 1 | a Freitag, C. M.4 aut |
| 700 | 1 | a Fombonne, E.4 aut |
| 700 | 1 | a Folstein, S. E.4 aut |
| 700 | 1 | a Fernandez, B.4 aut |
| 700 | 1 | a Fallin, M. D.4 aut |
| 700 | 1 | a Ercan-Sencicek, A. G.4 aut |
| 700 | 1 | a Ennis, S.4 aut |
| 700 | 1 | a Duque, F.4 aut |
| 700 | 1 | a Duketis, E.4 aut |
| 700 | 1 | a Delorme, R.4 aut |
| 700 | 1 | a De Rubeis, S.4 aut |
| 700 | 1 | a De Jonge, M. V.4 aut |
| 700 | 1 | a Dawson, G.4 aut |
| 700 | 1 | a Cuccaro, M. L.4 aut |
| 700 | 1 | a Correia, C. T.4 aut |
| 700 | 1 | a Conroy, J.4 aut |
| 700 | 1 | a Conceicao, I. C.4 aut |
| 700 | 1 | a Chiocchetti, A. G.4 aut |
| 700 | 1 | a Celestino-Soper, P. B. S.4 aut |
| 700 | 1 | a Casey, J.4 aut |
| 700 | 1 | a Cantor, R. M.4 aut |
| 700 | 1 | a Cafe, C.4 aut |
| 700 | 1 | a Brennan, S.4 aut |
| 700 | 1 | a Bourgeron, T.4 aut |
| 700 | 1 | a Bolton, P. F.4 aut |
| 700 | 1 | a Bolte, S.4 aut |
| 700 | 1 | a Bolshakova, N.4 aut |
| 700 | 1 | a Betancur, C.4 aut |
| 700 | 1 | a Bernier, R.4 aut |
| 700 | 1 | a Beaudet, A. L.4 aut |
| 700 | 1 | a Battaglia, A.4 aut |
| 700 | 1 | a Bal, V. H.4 aut |
| 700 | 1 | a Baird, G.4 aut |
| 700 | 1 | a Bailey, A. J.4 aut |
| 700 | 1 | a Baekvad-Hansen, M.4 aut |
| 700 | 1 | a Bader, J. S.4 aut |
| 700 | 1 | a Bacchelli, E.4 aut |
| 700 | 1 | a Anagnostou, E.4 aut |
| 700 | 1 | a Amaral, D.4 aut |
| 700 | 1 | a Almeida, J.4 aut |
| 700 | 1 | a Buxbaum, J. D.4 aut |
| 700 | 1 | a Chakravarti, A.4 aut |
| 700 | 1 | a Cook, E. H.4 aut |
| 700 | 1 | a Coon, H.4 aut |
| 700 | 1 | a Geschwind, D. H.4 aut |
| 700 | 1 | a Gill, M.4 aut |
| 700 | 1 | a Hakonarson, H.4 aut |
| 700 | 1 | a Hallmayer, J.4 aut |
| 700 | 1 | a Palotie, A.4 aut |
| 700 | 1 | a Santangelo, S.4 aut |
| 700 | 1 | a Sutcliffe, J. S.4 aut |
| 700 | 1 | a Arking, D. E.4 aut |
| 700 | 1 | a i, Psych-Broad Autism Grp Psychiat Genomics Consortium4 aut |
| 710 | 2 | a Karolinska Institutetb Gillbergcentrum4 org |
| 773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 49:7q 49:7x 1061-4036x 1546-1718 |
| 856 | 4 | u https://europepmc.org/articles/pmc5552240?pdf=render |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/255452 |
| 856 | 4 8 | u https://doi.org/10.1038/ng.3863 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:136091592 |
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