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| 2. |
- Leblond, Claire S, et al.
(författare)
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
- 2012
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:2
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n=396 patients and n=659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P=0.004, OR=2.37, 95% CI=1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P=0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
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| 3. |
- Aartsen, M. G., et al.
(författare)
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Evidence for High-Energy Extraterrestrial Neutrinos at the IceCube Detector
- 2013
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 342:6161, s. 947-
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Tidskriftsartikel (refereegranskat)abstract
- We report on results of an all-sky search for high-energy neutrino events interacting within the IceCube neutrino detector conducted between May 2010 and May 2012. The search follows up on the previous detection of two PeV neutrino events, with improved sensitivity and extended energy coverage down to about 30 TeV. Twenty-six additional events were observed, substantially more than expected from atmospheric backgrounds. Combined, both searches reject a purely atmospheric origin for the 28 events at the 4 sigma level. These 28 events, which include the highest energy neutrinos ever observed, have flavors, directions, and energies inconsistent with those expected from the atmospheric muon and neutrino backgrounds. These properties are, however, consistent with generic predictions for an additional component of extraterrestrial origin.
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| 4. |
- Aartsen, M. G., et al.
(författare)
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First Observation of PeV-Energy Neutrinos with IceCube
- 2013
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 111:2, s. 021103-
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Tidskriftsartikel (refereegranskat)abstract
- We report on the observation of two neutrino-induced events which have an estimated deposited energy in the IceCube detector of 1.04 +/- 0.16 and 1.14 +/- 0.17 PeV, respectively, the highest neutrino energies observed so far. These events are consistent with fully contained particle showers induced by neutral-current nu(e,mu,tau) ((nu) over bar (e,mu,tau)) or charged-current nu(e) ((nu) over bar (e)) interactions within the IceCube detector. The events were discovered in a search for ultrahigh energy neutrinos using data corresponding to 615.9 days effective live time. The expected number of atmospheric background is 0.082 +/- 0.004(stat)(-0.057)(+0.041)(syst). The probability of observing two or more candidate events under the atmospheric background-only hypothesis is 2.9 x 10(-3) (2.8 sigma) taking into account the uncertainty on the expected number of background events. These two events could be a first indication of an astrophysical neutrino flux; the moderate significance, however, does not permit a definitive conclusion at this time.
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| 5. |
- Aartsen, M. G., et al.
(författare)
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IceCube search for dark matter annihilation in nearby galaxies and galaxy clusters
- 2013
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Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 88:12
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Tidskriftsartikel (refereegranskat)abstract
- We present the results of a first search for self-annihilating dark matter in nearby galaxies and galaxy clusters using a sample of high-energy neutrinos acquired in 339.8 days of live time during 2009/10 with the IceCube neutrino observatory in its 59-string configuration. The targets of interest include the Virgo and Coma galaxy clusters, the Andromeda galaxy, and several dwarf galaxies. We obtain upper limits on the cross section as a function of the weakly interacting massive particle mass between 300 GeV and 100 TeV for the annihilation into b (b) over bar, W+(W) over bar (-), tau(+)tau(-), mu(+)mu(-) , and nu(nu) over bar. A limit derived for the Virgo cluster, when assuming a large effect from subhalos, challenges the weakly interacting massive particle interpretation of a recently observed GeV positron excess in cosmic rays.
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| 6. |
- Aartsen, M. G., et al.
(författare)
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Improvement in fast particle track reconstruction with robust statistics
- 2014
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 736, s. 143-149
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Tidskriftsartikel (refereegranskat)abstract
- The IceCube project has transformed 1 km(3) of deep natural Antarctic ice into a Cherenkov detector Muon neutrinos are detected and their direction is inferred by mapping the light produced by the secondary muon track inside the volume instrumented with photomultipliers. Reconstructing the muon track from the observed light is challenging due to noise, light scattering in the ice medium, and the possibility of simultaneously having multiple muons inside the detector, resulting from the large flux of cosmic ray muons. This paper describes work on two problems: (1) the truck reconstruction problem, in which, given a set of observations, the goal is to recover the track of a muon; and (2) the coincident event problem, which is to determine how many muons are active in the detector during a time window. Rather than solving these problems by developing more complex physical models that are applied at later stages of the analysis, our approach is to augment the detector's early reconstruction with data filters and robust statistical techniques. These can be implemented at the level of on-line reconstruction and, therefore, improve all subsequent reconstructions. Using the metric of median angular resolution, a standard metric for track reconstruction, we improve the accuracy in the initial reconstruction direction by 13%. We also present improvements in measuring the number of muons in coincident events: we can accurately determine the number of muons 98% of the time.
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| 7. |
- Aartsen, M. G., et al.
(författare)
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Measurement of Atmospheric Neutrino Oscillations with IceCube
- 2013
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 111:8, s. 081801-
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Tidskriftsartikel (refereegranskat)abstract
- We present the first statistically significant detection of neutrino oscillations in the high-energy regime (> 20 GeV) from an analysis of IceCube Neutrino Observatory data collected in 2010 and 2011. This measurement is made possible by the low-energy threshold of the DeepCore detector (similar to 20 GeV) and benefits from the use of the IceCube detector as a veto against cosmic-ray-induced muon background. The oscillation signal was detected within a low-energy muon neutrino sample (20-100 GeV) extracted from data collected by DeepCore. A high-energy muon neutrino sample (100 GeV-10 TeV) was extracted from IceCube data to constrain systematic uncertainties. The disappearance of low-energy upward-going muon neutrinos was observed, and the nonoscillation hypothesis is rejected with more than 5 sigma significance. In a two-neutrino flavor formalism, our data are best described by the atmospheric neutrino oscillation parameters vertical bar Delta m(32)(2)vertical bar = (2.3(-0.5)(+0.6)) x 10(-3) eV(2) and sin(2) (2 theta(23)) > 0.93, and maximum mixing is favored.
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| 8. |
- Aartsen, M. G., et al.
(författare)
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Measurement of South Pole ice transparency with the IceCube LED calibration system
- 2013
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 711, s. 73-89
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Tidskriftsartikel (refereegranskat)abstract
- The IceCube Neutrino Observatory, approximately 1 km(3) in size, is now complete with 86 strings deployed in the Antarctic ice. IceCube detects the Cherenkov radiation emitted by charged particles passing through or created in the ice. To realize the full potential of the detector, the properties of light propagation in the ice in and around the detector must be well understood. This report presents a new method of fitting the model of light propagation in the ice to a data set of in situ light source events collected with IceCube. The resulting set of derived parameters, namely the measured values of scattering and absorption coefficients vs. depth, is presented and a comparison of IceCube data with simulations based on the new model is shown.
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| 9. |
- Aartsen, M. G., et al.
(författare)
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Measurement of the Atmospheric nu(e) Flux in IceCube
- 2013
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 110:15, s. 151105-
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Tidskriftsartikel (refereegranskat)abstract
- We report the first measurement of the atmospheric electron neutrino flux in the energy range between approximately 80 GeV and 6 TeV, using data recorded during the first year of operation of IceCube's DeepCore low-energy extension. Techniques to identify neutrinos interacting within the DeepCore volume and veto muons originating outside the detector are demonstrated. A sample of 1029 events is observed in 281 days of data, of which 496 +/- 66(stat) +/- 88(syst) are estimated to be cascade events, including both electron neutrino and neutral current events. The rest of the sample includes residual backgrounds due to atmospheric muons and charged current interactions of atmospheric muon neutrinos. The flux of the atmospheric electron neutrinos is consistent with models of atmospheric neutrinos in this energy range. This constitutes the first observation of electron neutrinos and neutral current interactions in a very large volume neutrino telescope optimized for the TeV energy range.
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| 10. |
- Aartsen, M. G., et al.
(författare)
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Measurement of the cosmic ray energy spectrum with IceTop-73
- 2013
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Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 88:4, s. 042004-
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Tidskriftsartikel (refereegranskat)abstract
- We report on the measurement of the all-particle cosmic ray energy spectrum with the IceTop air shower array in the energy range from 1.58 PeV to 1.26 EeV. The IceTop air shower array is the surface component of the IceCube Neutrino Observatory at the geographical South Pole. The analysis was performed using only information from IceTop. The data used in this work were taken from June 1, 2010 to May 13, 2011. During that period the IceTop array consisted of 73 stations, compared to 81 in its final configuration. The measured spectrum exhibits a clear deviation from a single power law above the knee around 4 PeV and below 1 EeV. We observe spectral hardening around 18 PeV and steepening around 130 PeV.
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