Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity

Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1Acause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a-deficient mice present with cognitive and social deficits, hyperactivity and anxiety. In Drosophila, loss of the only ortholog of Cc2d1a, lgd, is embryonically lethal, while in vertebrates, Cc2d1a has a homolog Cc2d1b which appears to be compensating, indicating that Cc2d1a and Cc2d1b have a redundant function in humans and mice. Here, we generate an allelic series of Cc2d1a and Cc2d1b LOF to determine the relative role of these genes during behavioral development. We generated Cc2d1b knockout (KO), Cc2d1a/1b double heterozygous and double KO mice, then performed behavioral studies to analyze learning and memory, social interactions, anxiety, and hyperactivity. We found that Cc2d1a and Cc2d1b have partially overlapping roles. Overall, loss of Cc2d1b is less severe than loss of Cc2d1a, only leading to cognitive deficits, while Cc2d1a/1b double heterozygous animals are similar to Cc2d1a-deficient mice. These results will help us better understand the deficits in individuals with CC2D1A mutations, suggesting that recessive CC2D1B mutations and trans-heterozygous CC2D1A and CC2D1B mutations could also contribute to the genetics of ID

Measurement of the tt¯ tt¯ production cross section in pp collisions at √s = 13 TeV with the ATLAS detector

A measurement of four-top-quark production using proton-proton collision data at a centre-of-mass energy of 13 TeV collected by the ATLAS detector at the Large Hadron Collider corresponding to an integrated luminosity of 139 fb−1 is presented. Events are selected if they contain a single lepton (electron or muon) or an opposite-sign lepton pair, in association with multiple jets. The events are categorised according to the number of jets and how likely these are to contain b-hadrons. A multivariate technique is then used to discriminate between signal and background events. The measured four-top-quark production cross section is found to be 26+17−15 fb, with a corresponding observed (expected) significance of 1.9 (1.0) standard deviations over the background-only hypothesis. The result is combined with the previous measurement performed by the ATLAS Collaboration in the multilepton final state. The combined four-top-quark production cross section is measured to be 24+7−6 fb, with a corresponding observed (expected) signal significance of 4.7 (2.6) standard deviations over the background-only predictions. It is consistent within 2.0 standard deviations with the Standard Model expectation of 12.0 ± 2.4 fb.publishedVersio

Measurement of ZZ production in the ℓℓνν final state with the ATLAS detector in pp collisions at √s = 13 TeV

This paper presents a measurement of ZZ production with the ATLAS detector at the Large Hadron Collider. The measurement is carried out in the final state with two charged leptons and two neutrinos, using data collected during 2015 and 2016 in pp collisions at s√ = 13 TeV, corresponding to an integrated luminosity of 36.1 fb−1. The integrated cross-sections in the total and fiducial phase spaces are measured with an uncertainty of 7% and compared with Standard Model predictions, and differential measurements in the fiducial phase space are reported. No significant deviations from the Standard Model predictions are observed, and stringent constraints are placed on anomalous couplings corresponding to neutral triple gauge-boson interactions.publishedVersio

Search for R-parity-violating supersymmetry in a final state containing leptons and many jets with the ATLAS experiment using √s = 13 TeV proton–proton collision data

A search for R-parity-violating supersymmetry in final states characterized by high jet multiplicity, at least one isolated light lepton and either zero or at least three b-tagged jets is presented. The search uses 139fb−1 of s√=13 TeV proton–proton collision data collected by the ATLAS experiment during Run 2 of the Large Hadron Collider. The results are interpreted in the context of R-parity-violating supersymmetry models that feature gluino production, top-squark production, or electroweakino production. The dominant sources of background are estimated using a data-driven model, based on observables at medium jet multiplicity, to predict the b-tagged jet multiplicity distribution at the higher jet multiplicities used in the search. Machine-learning techniques are used to reach sensitivity to electroweakino production, extending the data-driven background estimation to the shape of the machine-learning discriminant. No significant excess over the Standard Model expectation is observed and exclusion limits at the 95% confidence level are extracted, reaching as high as 2.4 TeV in gluino mass, 1.35 TeV in top-squark mass, and 320 (365) GeV in higgsino (wino) mass.publishedVersio

Search for invisible Higgs boson decays in vector boson fusion at √s = 13 TeV with the ATLAS detector

We report a search for Higgs bosons that are produced via vector boson fusion and subsequently decay into invisible particles. The experimental signature is an energetic jet pair with invariant mass of O(1) TeV and O(100) GeV missing transverse momentum. The analysis uses 36.1 fb−1 of pp collision data at √s=13 TeV recorded by the ATLAS detector at the LHC. In the signal region the 2252 observed events are consistent with the background estimation. Assuming a 125 GeV scalar particle with Standard Model cross sections, the upper limit on the branching fraction of the Higgs boson decay into invisible particles is 0.37 at 95% confidence level where 0.28 was expected. This limit is interpreted in Higgs portal models to set bounds on the wimp–nucleon scattering cross section. We also consider invisible decays of additional scalar bosons with masses up to 3 TeV for which the upper limits on the cross section times branching fraction are in the range of 0.3–1.7 pb.publishedVersio

Search for new phenomena with top quark pairs in final states with one lepton, jets, and missing transverse momentum in pp collisions at √s = 13 TeV with the ATLAS detector

A search for new phenomena with top quark pairs in final states with one isolated electron or muon, multiple jets, and large missing transverse momentum is performed. Signal regions are designed to search for two-, three-, and four-body decays of the directly pair-produced supersymmetric partner of the top quark (stop). Additional signal regions are designed specifically to search for spin-0 mediators that are produced in association with a pair of top quarks and decay into a pair of dark-matter particles. The search is performed using the Large Hadron Collider proton-proton collision dataset at a centre-of-mass energy of √s = 13 TeV recorded by the ATLAS detector from 2015 to 2018, corresponding to an integrated luminosity of 139 fb−1. No significant excess above the Standard Model background is observed, and limits at 95% confidence level are set in the stop-neutralino mass plane and as a function of the mediator mass or the dark-matter particle mass. Stops are excluded up to 1200 GeV (710 GeV) in the two-body (three-body) decay scenario. In the four-body scenario stops up to 640 GeV are excluded for a stop-neutralino mass difference of 60 GeV. Scalar and pseudoscalar dark-matter mediators are excluded up to 200 GeV when the coupling strengths of the mediator to Standard Model and dark-matter particles are both equal to one and when the mass of the dark-matter particle is 1 GeV.publishedVersio

Search for the Higgs boson decays H → ee and H → eμ in pp collisions at √s=13 TeV with the ATLAS detector

Searches for the Higgs boson decays H → ee and H → eμ are performed using data corresponding to an integrated luminosity of 139 fb−1 collected with the ATLAS detector in pp collisions at √s = 13 TeV at the LHC. No significant signals are observed, in agreement with the Standard Model expectation. For a Higgs boson mass of 125 GeV, the observed (expected) upper limit at the 95% confidence level on the branching fraction B(H → ee) is 3.6 × 10−4 (3.5 × 10−4) and on B(H → eμ) is 6.2 × 10−5 (5.9 × 10−5). These results represent improvements by factors of about five and six on the previous best limits on B(H → ee) and B(H → eμ) respectively.publishedVersio

Measurement of the CP-violating phase ϕs in B0s→J/ψϕ decays in ATLAS at 13 TeV

A measurement of the B0s→J/ψϕ decay parameters using 80.5fb−1 of integrated luminosity collected with the ATLAS detector from 13 TeV proton–proton collisions at the LHC is presented. The measured parameters include the CP-violating phase ϕs, the width difference ΔΓs between the B0s meson mass eigenstates and the average decay width Γs. The values measured for the physical parameters are combined with those from 19.2fb−1 of 7 and 8 TeV data, leading to the following: ϕs=−0.087±0.036 (stat.)±0.021 (syst.) rad ΔΓs=0.0657±0.0043 (stat.)±0.0037 (syst.) ps−1 Γs=0.6703±0.0014 (stat.)±0.0018 (syst.) ps−1 Results for ϕs and ΔΓs are also presented as 68% confidence level contours in the ϕs–ΔΓs plane. Furthermore the transversity amplitudes and corresponding strong phases are measured. ϕs and ΔΓs measurements are in agreement with the Standard Model predictions.publishedVersio

Search for charginos and neutralinos in final states with two boosted hadronically decaying bosons and missing transverse momentum in pp collisions at √s=13 TeV with the ATLAS detector

A search for charginos and neutralinos at the Large Hadron Collider using fully hadronic final states and missing transverse momentum is reported. Pair-produced charginos or neutralinos are explored, each decaying into a high-pT Standard Model weak boson. Fully hadronic final states are studied to exploit the advantage of the large branching ratio, and the efficient rejection of backgrounds by identifying the high-pT bosons using large-radius jets and jet substructure information. An integrated luminosity of 139  fb−1 of proton-proton collision data collected by the ATLAS detector at a center-of-mass energy of 13 TeV is used. No significant excess is found beyond the Standard Model expectation. Exclusion limits at the 95% confidence level are set on wino or higgsino production with various assumptions about the decay branching ratios and the type of lightest supersymmetric particle. A wino (higgsino) mass up to 1060 (900) GeV is excluded when the lightest supersymmetry particle mass is below 400 (240) GeV and the mass splitting is larger than 400 (450) GeV. The sensitivity to high-mass winos and higgsinos is significantly extended relative to previous LHC searches using other final states.publishedVersio

Search for lepton-flavor violation in Z-boson decays with τ leptons with the ATLAS detector

A search for lepton-flavor-violating Z→eτ and Z→μτ decays with pp collision data recorded by the ATLAS detector at the LHC is presented. This analysis uses 139  fb−1 of Run 2 pp collisions at √s=13 TeV and is combined with the results of a similar ATLAS search in the final state in which the τ lepton decays hadronically, using the same data set as well as Run 1 data. The addition of leptonically decaying τ leptons significantly improves the sensitivity reach for Z→ℓτ decays. The Z→ℓτ branching fractions are constrained in this analysis to B(Z→eτ)<7.0×10−6 and B(Z→μτ)<7.2×10−6 at 95% confidence level. The combination with the previously published analyses sets the strongest constraints to date: B(Z→eτ)<5.0×10−6 and B(Z→μ)<6.5×10−6 at 95% confidence level.publishedVersio