| 1. |
- Rodriguez-Palmero, Agusti, et al.
(författare)
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DLG4-related synaptopathy : a new rare brain disorder
- 2021
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 23:5, s. 888-899
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Tidskriftsartikel (refereegranskat)abstract
- PurposePostsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.ResultsThe clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.ConclusionThe present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.
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| 2. |
- Aprile, E., et al.
(författare)
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Low-mass dark matter search using ionization signals in XENON100
- 2016
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Ingår i: Physical Review D. - 2470-0010. ; 94:9
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Tidskriftsartikel (refereegranskat)abstract
- We perform a low-mass dark matter search using an exposure of 30 kg x yr with the XENON100 detector. By dropping the requirement of a scintillation signal and using only the ionization signal to determine the interaction energy, we lowered the energy threshold for detection to 0.7 keV for nuclear recoils. No dark matter detection can be claimed because a complete background model cannot be constructed without a primary scintillation signal. Instead, we compute an upper limit on the WIMP-nucleon scattering cross section under the assumption that every event passing our selection criteria could be a signal event. Using an energy interval from 0.7 keV to 9.1 keV, we derive a limit on the spin-independent WIMP-nucleon cross section that excludes WIMPs with a mass of 6 GeV/c(2) above 1.4 x 10(-41) cm(2) at 90% confidence level.
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| 3. |
- Aprile, E., et al.
(författare)
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Material radioassay and selection for the XENON1T dark matter experiment
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:12
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Tidskriftsartikel (refereegranskat)abstract
- The XENON1T dark matter experiment aims to detect weakly interactingmassive particles (WIMPs) through low-energy interactions with xenon atoms. To detect such a rare event necessitates the use of radiopure materials to minimize the number of background events within the expected WIMP signal region. In this paper we report the results of an extensive material radioassay campaign for the XENON1T experiment. Using gamma-ray spectroscopy and mass spectrometry techniques, systematic measurements of trace radioactive impurities in over one hundred samples within a wide range of materials were performed. The measured activities allowed for stringent selection and placement of materials during the detector construction phase and provided the input for XENON1T detection sensitivity estimates through Monte Carlo simulations.
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| 4. |
- Aprile, E., et al.
(författare)
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Online Rn-222 removal by cryogenic distillation in the XENON100 experiment
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:6
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Tidskriftsartikel (refereegranskat)abstract
- We describe the purification of xenon from traces of the radioactive noble gas radon using a cryogenic distillation column. The distillation column was integrated into the gas purification loop of the XENON100 detector for online radon removal. This enabled us to significantly reduce the constant Rn-222 background originating from radon emanation. After inserting an auxiliary 222Rn emanation source in the gas loop, we determined a radon reduction factor of R > 27 (95% C.L.) for the distillation column by monitoring the Rn-222 activity concentration inside the XENON100 detector.
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| 5. |
- Aprile, E., et al.
(författare)
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Physics reach of the XENON1T dark matter experiment
- 2016
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Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
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Tidskriftsartikel (refereegranskat)abstract
- The XENON1T experiment is currently in the commissioning phase at the Laboratori Nazionali del Gran Sasso, Italy. In this article we study the experiment's expected sensitivity to the spin-independent WIMP-nucleon interaction cross section, based on Monte Carlo predictions of the electronic and nuclear recoil backgrounds. The total electronic recoil background in 1 tonne fiducial volume and (1, 12) keV electronic recoil equivalent energy region, before applying any selection to discriminate between electronic and nuclear recoils, is (1.80+/-0.15) . 10(-4) (kg.day.keV)(-1), mainly due to the decay of Rn-222 daughters inside the xenon target. The nuclear recoil background in the corresponding nuclear recoil equivalent energy region (4, 50) keV, is composed of (0.6 +/- 0.1) (t.y)(-1) from radiogenic neutrons, (1.8+/-0.3) . 10(-2) (t.y)(-1) from coherent scattering of neutrinos, and less than 0.01 (t.y)(-1) from muon-induced neutrons. The sensitivity of XENON1T is calculated with the Pro file Likelihood Ratio method, after converting the deposited energy of electronic and nuclear recoils into the scintillation and ionization signals seen in the detector. We take into account the systematic uncertainties on the photon and electron emission model, and on the estimation of the backgrounds, treated as nuisance parameters. The main contribution comes from the relative scintillation efficiency L-eff, which affects both the signal from WIMPs and the nuclear recoil backgrounds. After a 2 y measurement in 1 tonne fiducial volume, the sensitivity reaches a minimum cross section of 1.6 . 10(-47) cm(2) at m(chi) = 50 GeV/c(2).
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| 6. |
- Aprile, E., et al.
(författare)
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Removing krypton from xenon by cryogenic distillation to the ppq level
- 2017
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 77:5
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Tidskriftsartikel (refereegranskat)abstract
- The XENON1T experiment aims for the direct detection of dark matter in a detector filled with 3.3 tons of liquid xenon. In order to achieve the desired sensitivity, the background induced by radioactive decays inside the detector has to be sufficiently low. One major contributor is the beta-emitter Kr-85 which is present in the xenon. For XENON1T a concentration of natural krypton in xenon Kr-nat/Xe < 200 ppq (parts per quadrillion, 1 ppq = 10(-15) mol/mol) is required. In this work, the design, construction and test of a novel cryogenic distillation column using the common McCabe-Thiele approach is described. The system demonstrated a krypton reduction factor of 6.4 . 10(5) with thermodynamic stability at process speeds above 3 kg/h. The resulting concentration of natKr/Xe < 26 ppq is the lowest ever achieved, almost one order of magnitude below the requirements for XENON1T and even sufficient for future dark matter experiments using liquid xenon, such as XENONnT and DARWIN.
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| 7. |
- Aprile, E., et al.
(författare)
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Results from a calibration of XENON100 using a source of dissolved radon-220
- 2017
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Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 95:7
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Tidskriftsartikel (refereegranskat)abstract
- A Rn-220 source is deployed on the XENON100 dark matter detector in order to address the challenges in calibration of tonne-scale liquid noble element detectors. We show that the Pb-212 beta emission can be used for low-energy electronic recoil calibration in searches for dark matter. The isotope spreads throughout the entire active region of the detector, and its activity naturally decays below background level within a week after the source is closed. We find no increase in the activity of the troublesome Rn-222 background after calibration. Alpha emitters are also distributed throughout the detector and facilitate calibration of its response to Rn-222. Using the delayed coincidence of Rn-220-Po-216, we map for the first time the convective motion of particles in the XENON100 detector. Additionally, we make a competitive measurement of the half-life of Po-212, t(1/2) = (293.9 +/- (1.0)(stat) +/- (0.6)(sys)) ns.
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| 8. |
- Aprile, E., et al.
(författare)
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Search for Electronic Recoil Event Rate Modulation with 4 Years of XENON100 Data
- 2017
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 118:10
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Tidskriftsartikel (refereegranskat)abstract
- We report on a search for electronic recoil event rate modulation signatures in the XENON100 data accumulated over a period of 4 yr, from January 2010 to January 2014. A profile likelihood method, which incorporates the stability of the XENON100 detector and the known electronic recoil background model, is used to quantify the significance of periodicity in the time distribution of events. There is a weak modulation signature at a period of 431(-14)(+16) day in the low energy region of (2.0-5.8) keV in the single scatter event sample, with a global significance of 1.9 sigma; however, no other more significant modulation is observed. The significance of an annual modulation signature drops from 2.8 sigma, from a previous analysis of a subset of this data, to 1.8 sigma with all data combined. Single scatter events in the low energy region are thus used to exclude the DAMA/LIBRA annual modulation as being due to dark matter electron interactions via axial vector coupling at 5.7 sigma.
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| 9. |
- Aprile, E., et al.
(författare)
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Search for two-neutrino double electron capture of Xe-124 with XENON100
- 2017
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Ingår i: Physical Review C. - 2469-9985. ; 95:2
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Tidskriftsartikel (refereegranskat)abstract
- Two-neutrino double electron capture is a rare nuclear decay where two electrons are simultaneously captured from the atomic shell. For Xe-124 this process has not yet been observed and its detection would provide a new reference for nuclear matrix element calculations. We have conducted a search for two-neutrino double electron capture from the K shell of 124Xe using 7636 kg d of data from the XENON100 dark matter detector. Using a Bayesian analysis we observed no significant excess above background, leading to a lower 90% credibility limit on the half-life T-1/2 > 6.5 x 10(20) yr. We have also evaluated the sensitivity of the XENON1T experiment, which is currently being commissioned, and found a sensitivity of T-1/2 > 6.1 x 10(22) yr after an exposure of 2 t yr.
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| 10. |
- Aprile, E., et al.
(författare)
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XENON100 dark matter results from a combination of 477 live days
- 2016
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Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 94:12
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Tidskriftsartikel (refereegranskat)abstract
- We report on WIMP search results of the XENON100 experiment, combining three runs summing up to 477 live days from January 2010 to January 2014. Data from the first two runs were already published. A blind analysis was applied to the last run recorded between April 2013 and January 2014 prior to combining the results. The ultralow electromagnetic background of the experiment, similar to 5 x 10(-3) events/(keV(ee) x kg x day)) before electronic recoil rejection, together with the increased exposure of 48 kg x yr, improves the sensitivity. A profile likelihood analysis using an energy range of (6.6-43.3) keV(nr) sets a limit on the elastic, spin-independent WIMP-nucleon scattering cross section for WIMP masses above 8 GeV/c(2), with a minimum of 1.1 x 10(-45) cm(2) at 50 GeV/c(2) and 90% confidence level. We also report updated constraints on the elastic, spin-dependent WIMP-nucleon cross sections obtained with the same data. We set upper limits on the WIMP-neutron (proton) cross section with a minimum of 2.0 x 10(-40) cm(2) (52 x 10(-40) cm(2)) at a WIMP mass of 50 GeV/c(2), at 90% confidence level.
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