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Numrering	Referens	Omslagsbild	Hitta
161.	Pinto, Dalila, et al. (författare) Functional impact of global rare copy number variation in autism spectrum disorders. 2010 Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7304, s. 368-372 Tidskriftsartikel (refereegranskat)abstract The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
162.	Prokunina-Olsson, L, et al. (författare) Refining the prostate cancer genetic association within the JAZF1 gene on chromosome 7p15.2 2010 Ingår i: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1538-7755. ; 19:5, s. 1349-1355 Tidskriftsartikel (refereegranskat)
163.	Reba-Harrelson, L, et al. (författare) Features associated with diet pill use in individuals with eating disorders 2008 Ingår i: Eating behaviors. - : Elsevier BV. - 1471-0153. ; 9:1, s. 73-81 Tidskriftsartikel (refereegranskat)
164.	Reba, L, et al. (författare) Relationships between features associated with vomiting in purging-type eating disorders 2005 Ingår i: The International journal of eating disorders. - : Wiley. - 0276-3478 .- 1098-108X. ; 38:4, s. 287-294 Tidskriftsartikel (refereegranskat)
165.	Root, TL, et al. (författare) Association of candidate genes with phenotypic traits relevant to anorexia nervosa 2011 Ingår i: European eating disorders review : the journal of the Eating Disorders Association. - : Wiley. - 1099-0968. ; 19:6, s. 487-493 Tidskriftsartikel (refereegranskat)
166.	Rosenfeld, LE, et al. (författare) Arrhythmias in Cardiac Sarcoidosis Bench to Bedside: A Case-Based Review 2021 Ingår i: Circulation. Arrhythmia and electrophysiology. - 1941-3084. ; 14:2, s. 219-233 Tidskriftsartikel (refereegranskat)
167.	Satapathy, Kaushik, et al. (författare) The Variability of the Black Hole Image in M87 at the Dynamical Timescale 2022 Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 925:1 Tidskriftsartikel (refereegranskat)abstract The black hole images obtained with the Event Horizon Telescope (EHT) are expected to be variable at the dynamical timescale near their horizons. For the black hole at the center of the M87 galaxy, this timescale (5-61 days) is comparable to the 6 day extent of the 2017 EHT observations. Closure phases along baseline triangles are robust interferometric observables that are sensitive to the expected structural changes of the images but are free of station-based atmospheric and instrumental errors. We explored the day-to-day variability in closure-phase measurements on all six linearly independent nontrivial baseline triangles that can be formed from the 2017 observations. We showed that three triangles exhibit very low day-to-day variability, with a dispersion of similar to 3 degrees-5 degrees. The only triangles that exhibit substantially higher variability (similar to 90 degrees-180 degrees) are the ones with baselines that cross the visibility amplitude minima on the u-v plane, as expected from theoretical modeling. We used two sets of general relativistic magnetohydrodynamic simulations to explore the dependence of the predicted variability on various black hole and accretion-flow parameters. We found that changing the magnetic field configuration, electron temperature model, or black hole spin has a marginal effect on the model consistency with the observed level of variability. On the other hand, the most discriminating image characteristic of models is the fractional width of the bright ring of emission. Models that best reproduce the observed small level of variability are characterized by thin ring-like images with structures dominated by gravitational lensing effects and thus least affected by turbulence in the accreting plasmas.
168.	Schumacher, FR, et al. (författare) Genome-wide association study identifies new prostate cancer susceptibility loci 2011 Ingår i: CANCER RESEARCH. - 0008-5472. ; 71 Konferensbidrag (övrigt vetenskapligt/konstnärligt)
169.	Shroff, H, et al. (författare) Features associated with excessive exercise in women with eating disorders 2006 Ingår i: The International journal of eating disorders. - : Wiley. - 0276-3478 .- 1098-108X. ; 39:6, s. 454-461 Tidskriftsartikel (refereegranskat)
170.	Shuman, NK, et al. (författare) Is season of birth related to disordered eating and personality in women with eating disorders? 2010 Ingår i: Eating and weight disorders : EWD. - 1590-1262. ; 15:3, s. E186-E189 Tidskriftsartikel (refereegranskat)

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Författare/redaktör: Bulik, CM (37); Johnson, C. (34); Kaye, WH (33); Halmi, KA (32); Kaplan, AS (31); Benson, Bradford A. (27); visa fler...; Crawford, Thomas M. (27); Akiyama, Kazunori (26); Alberdi, Antxon (26); Alef, Walter (26); Ball, David (26); Barrett, John (26); Bintley, Dan (26); Blackburn, Lindy (26); Brissenden, Roger (26); Britzen, Silke (26); Broderick, Avery E. (26); Bronzwaer, Thomas (26); Byun, Do Young (26); Chen, Ming Tang (26); Chen, Yongjun (26); Christian, Pierre (26); Cui, Yuzhu (26); Davelaar, Jordy (26); Desvignes, Gregory (26); Eatough, Ralph P. (26); Galison, Peter (26); Gammie, Charles F. (26); Gentaz, Olivier (26); Gu, Minfeng (26); Huang, Chih Wei L. (26); Huang, Lei (26); De Laurentis, Mariaf ... (26); Mitchell, J. (25); Chan, Chi Kwan (25); Conway, John, 1963 (25); Cordes, James M. (25); Dexter, Jason (25); Fromm, Christian M. (25); Garcia, Roberto (25); Georgiev, Boris (25); Hecht, Michael H. (25); Ho, Luis C. (25); Ikeda, Shiro (25); Inoue, Makoto (25); James, David J. (25); Jannuzi, Buell T. (25); Jeter, Britton (25); Wong, George N. (25); Younsi, Ziri (25); visa färre...

Lärosäte: Karolinska Institutet (132); Göteborgs universitet (37); Lunds universitet (36); Chalmers tekniska högskola (35); Uppsala universitet (31); Umeå universitet (17); visa fler...; Stockholms universitet (15); Linköpings universitet (8); Luleå tekniska universitet (7); Kungliga Tekniska Högskolan (6); Högskolan Dalarna (3); Örebro universitet (2); Jönköping University (2); Sveriges Lantbruksuniversitet (2); Högskolan i Halmstad (1); Högskolan Väst (1); Linnéuniversitetet (1); RISE (1); Naturhistoriska riksmuseet (1); visa färre...

Språk: Engelska (240)

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