↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Tyck till om SwePub Sök här!

Träfflista för sökning "WFRF:(Buxbaum JD) "

Search: WFRF:(Buxbaum JD)

Result 11-20 of 48

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
11.	Butler-Laporte, G, et al. (author) Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative 2022 In: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 18:11, s. e1010367- Journal article (peer-reviewed)abstract Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75–10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.
12.	De Rubeis, S, et al. (author) Synaptic, transcriptional and chromatin genes disrupted in autism 2014 In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 515:7526, s. 209- Journal article (peer-reviewed)
13.	Fromer, M, et al. (author) Gene expression elucidates functional impact of polygenic risk for schizophrenia 2016 In: Nature neuroscience. - : Springer Science and Business Media LLC. - 1546-1726 .- 1097-6256. ; 19:11, s. 1442-1453 Journal article (peer-reviewed)
14.	Fu, JM, et al. (author) Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 2022 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:9, s. 1320- Journal article (peer-reviewed)
15.	Gaugler, T, et al. (author) Most genetic risk for autism resides with common variation 2014 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 46:8, s. 881-885 Journal article (peer-reviewed)
16.	Grice, DE, et al. (author) RECURRENT AND LARGE COPY NUMBER VARIATION IN OCD RISK: RESULTS FROM THE EGOS STUDY 2019 In: JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY. - : Elsevier BV. - 0890-8567. ; 58:10, s. S260-S260 Conference paper (other academic/artistic)
17.	Grove, J, et al. (author) Identification of common genetic risk variants for autism spectrum disorder 2019 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 51:3, s. 431- Journal article (peer-reviewed)
18.	Hansen, SN, et al. (author) Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study 2019 In: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier BV. - 1527-5418 .- 0890-8567. ; 58:9, s. 866-875 Journal article (peer-reviewed)
19.	Harold, D, et al. (author) Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia 2019 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. - : Wiley. - 1552-485X. ; 180:3, s. 223-231 Journal article (peer-reviewed)
20.	Hauberg, ME, et al. (author) Differential activity of transcribed enhancers in the prefrontal cortex of 537 cases with schizophrenia and controls 2019 In: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 24:11, s. 1685-1695 Journal article (peer-reviewed)

Skapa referenser, mejla, bekava och länka

Permalink

Result 11-20 of 48

Refine your search

Type of publication: journal article (45); conference paper (2)

Type of content: peer-reviewed (43); other academic/artistic (4)

Author/Editor: Buxbaum, JD (47); Reichenberg, A. (27); Hultman, CM (22); Sandin, S (19); Gill, M. (17); Daly, MJ (16); show more...; Owen, MJ (16); O'Donovan, MC (15); Nothen, MM (14); Palotie, A (14); Neale, BM (14); Devlin, B. (14); Domenici, E (14); Mattheisen, M (13); Ripke, S (13); Sklar, P (13); Maier, W (13); Holmans, PA (13); Giegling, I (13); Hartmann, AM (13); Sullivan, PF (12); Rujescu, D (12); Werge, T (12); Smoller, JW (12); Fromer, M (12); Roussos, P (12); Klei, L. (12); Hoffmann, P (11); Levinson, DF (11); Hakonarson, H (11); Herms, S. (11); Roeder, K. (11); Posthuma, D (11); Grice, DE (11); Haroutunian, V (11); Andreassen, OA (10); Pato, MT (10); Muller-Myhsok, B (10); Wray, NR (10); Degenhardt, F (10); Schulze, TG (10); Borglum, AD (10); Shi, JX (10); Metspalu, A (10); Frank, J (10); Witt, SH (10); Kendler, KS (10); Escott-Price, V (10); Mahjani, B (10); Dudbridge, F (10); show less...

University: Karolinska Institutet (47); Uppsala University (5); University of Gothenburg (3); Umeå University (3); Stockholm University (3)

Language: English (48)

Research subject (UKÄ/SCB): Medical and Health Sciences (11); Natural sciences (3)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view