Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

2020

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exs…

Search for New Phenomena in Final States with Two Leptons and One or No b -Tagged Jets at s=13  TeV Using the ATLAS Detector

2021

A search for new phenomena is presented in final states with two leptons and one or no $b$-tagged jets. The event selection requires the two leptons to have opposite charge, the same flavor (electrons or muons), and a large invariant mass. The analysis is based on the full Run-2 proton-proton collision dataset recorded at a center-of-mass energy of $\sqrt{s} = 13$ TeV by the ATLAS experiment at the LHC, corresponding to an integrated luminosity of 139 fb$^{-1}$. No significant deviation from the expected background is observed in the data. A four-fermion contact interaction between two quarks ($b,s$) and two leptons ($ee$ or $\mu\mu$), inspired by the $B$-meson decay anomalies, is used as a…

Search for Higgs Boson Decays into a Z Boson and a Light Hadronically Decaying Resonance Using 13 TeV pp Collision Data from the ATLAS Detector

2020

A search for Higgs boson decays into a Z boson and a light resonance in two-lepton plus jet events is performed, using a pp collision dataset with an integrated luminosity of 139  fb^{-1} collected at sqrt[s]=13  TeV by the ATLAS experiment at the CERN LHC. The resonance considered is a light boson with a mass below 4 GeV from a possible extended scalar sector or a charmonium state. Multivariate discriminants are used for the event selection and for evaluating the mass of the light resonance. No excess of events above the expected background is found. Observed (expected) 95% confidence-level upper limits are set on the Higgs boson production cross section times branching fraction to a Z bos…

Dijet Resonance Search with Weak Supervision Using s=13  TeV pp Collisions in the ATLAS Detector

2020

This Letter describes a search for narrowly resonant new physics using a machine-learning anomaly detection procedure that does not rely on signal simulations for developing the analysis selection. Weakly supervised learning is used to train classifiers directly on data to enhance potential signals. The targeted topology is dijet events and the features used for machine learning are the masses of the two jets. The resulting analysis is essentially a three-dimensional search A→BC, for m_{A}∼O(TeV), m_{B},m_{C}∼O(100  GeV) and B, C are reconstructed as large-radius jets, without paying a penalty associated with a large trials factor in the scan of the masses of the two jets. The full run 2 sq…

Search for trilepton resonances from chargino and neutralino pair production in s=13  TeV pp collisions with the ATLAS detector

2021

A search is performed for the electroweak pair production of charginos and associated production of a chargino and neutralino, each of which decays through an $R$-parity-violating coupling into a lepton and a $W$, $Z$, or Higgs boson. The trilepton invariant-mass spectrum is constructed from events with three or more leptons, targeting chargino decays that include an electron or muon and a leptonically decaying $Z$ boson. The analyzed dataset corresponds to an integrated luminosity of 139 fb$^{-1}$ of proton-proton collision data produced by the Large Hadron Collider at a center-of-mass energy of $\sqrt{s}$ = 13 TeV and collected by the ATLAS experiment between 2015 and 2018. The data are f…

Longitudinal Flow Decorrelations in Xe+Xe Collisions at sNN=5.44  TeV with the ATLAS Detector

2021

The first measurement of longitudinal decorrelations of harmonic flow amplitudes v_{n} for n=2-4 in Xe+Xe collisions at sqrt[s_{NN}]=5.44  TeV is obtained using 3  μb^{-1} of data with the ATLAS detector at the LHC. The decorrelation signal for v_{3} and v_{4} is found to be nearly independent of collision centrality and transverse momentum (p_{T}) requirements on final-state particles, but for v_{2} a strong centrality and p_{T} dependence is seen. When compared with the results from Pb+Pb collisions at sqrt[s_{NN}]=5.02  TeV, the longitudinal decorrelation signal in midcentral Xe+Xe collisions is found to be larger for v_{2}, but smaller for v_{3}. Current hydrodynamic models reproduce th…

CP Properties of Higgs Boson Interactions with Top Quarks in the tt¯H and tH Processes Using H→γγ with the ATLAS Detector

2020

A study of the charge conjugation and parity (CP) properties of the interaction between the Higgs boson and top quarks is presented. Higgs bosons are identified via the diphoton decay channel (H→γγ), and their production in association with a top quark pair (tt[over ¯]H) or single top quark (tH) is studied. The analysis uses 139  fb^{-1} of proton-proton collision data recorded at a center-of-mass energy of sqrt[s]=13  TeV with the ATLAS detector at the Large Hadron Collider. Assuming a CP-even coupling, the tt[over ¯]H process is observed with a significance of 5.2 standard deviations. The measured cross section times H→γγ branching ratio is 1.64_{-0.36}^{+0.38}(stat)_{-0.14}^{+0.17}(sys) …

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

2017

AbstractPreviously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10−08). A meta-analysis of rs6874700 of our previous and prese…

Medium-Induced Modification of Z -Tagged Charged Particle Yields in Pb+Pb Collisions at 5.02 TeV with the ATLAS Detector

2021

The yield of charged particles opposite to a Z boson with large transverse momentum (p_{T}) is measured in 260  pb^{-1} of pp and 1.7  nb^{-1} of Pb+Pb collision data at 5.02 TeV per nucleon pair recorded with the ATLAS detector at the Large Hadron Collider. The Z boson tag is used to select hard-scattered partons with specific kinematics, and to observe how their showers are modified as they propagate through the quark-gluon plasma created in Pb+Pb collisions. Compared with pp collisions, charged-particle yields in Pb+Pb collisions show significant modifications as a function of charged-particle p_{T} in a way that depends on event centrality and Z boson p_{T}. The data are compared with a…

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

2017

Background The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. Methods To detect further causative CNVs we perfor…

Search for bottom-squark pair production in pp collision events at s=13  TeV with hadronically decaying τ -leptons, b -jets, and missing transverse m…

2021

A search for pair production of bottom squarks in events with hadronically decaying τ-leptons, b-tagged jets, and large missing transverse momentum is presented. The analyzed dataset is based on proton-proton collisions at s=13 TeV delivered by the Large Hadron Collider and recorded by the ATLAS detector from 2015 to 2018, and corresponds to an integrated luminosity of 139 fb-1. The observed data are compatible with the expected Standard Model background. Results are interpreted in a simplified model where each bottom squark is assumed to decay into the second-lightest neutralino χ 20 and a bottom quark, with χ 20 decaying into a Higgs boson and the lightest neutralino χ 10. The search focu…

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

2020

Searches for the Higgs boson decays H -> ee and H -> e mu are performed using data corresponding to an integrated luminosity of 139 fb(-1) collected with the ATLAS detector in pp collisions a ...

Test of CP invariance in vector-boson fusion production of the Higgs boson in the H → ττ channel in proton–proton collisions at s=13TeV with the ATLA…

2020

A test of CP invariance in Higgs boson production via vector-boson fusion is performed in the H → ττ decay channel. This test uses the Optimal Observable method and is carried out using 36.1 fb−1 of √s = 13 TeV proton–proton collision data collected by the ATLAS experiment at the LHC. Contributions from CP-violating interactions between the Higgs boson and electroweak gauge bosons are described by an effective field theory, in which the parameter ˜ d governs the strength of CP violation. No sign of CP violation is observed in the distributions of the Optimal Observable, and ˜ d is constrained to the interval [−0.090, 0.035] at the 68% confidence level (CL), compared to an expected interval …

Search for Heavy Higgs Bosons Decaying into Two Tau Leptons with the ATLAS Detector Using pp Collisions at s=13  TeV

2020

A search for heavy neutral Higgs bosons is performed using the LHC Run 2 data, corresponding to an integrated luminosity of 139  fb^{-1} of proton-proton collisions at sqrt[s]=13  TeV recorded with the ATLAS detector. The search for heavy resonances is performed over the mass range 0.2-2.5 TeV for the τ^{+}τ^{-} decay with at least one τ-lepton decaying into final states with hadrons. The data are in good agreement with the background prediction of the standard model. In the M_{h}^{125} scenario of the minimal supersymmetric standard model, values of tanβ>8 and tanβ>21 are excluded at the 95% confidence level for neutral Higgs boson masses of 1.0 and 1.5 TeV, respectively, where tanβ is the…

40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004

2004

Search for Dark Matter Produced in Association with a Dark Higgs Boson Decaying into W±W∓ or ZZ in Fully Hadronic Final States from s=13  TeV pp Coll…

2021

Several extensions of the Standard Model predict the production of dark matter particles at the LHC. An uncharted signature of dark matter particles produced in association with VV=W^{±}W^{∓} or ZZ pairs from a decay of a dark Higgs boson s is searched for using 139  fb^{-1} of pp collisions recorded by the ATLAS detector at a center-of-mass energy of 13 TeV. The s→V(qq[over ¯])V(qq[over ¯]) decays are reconstructed with a novel technique aimed at resolving the dense topology from boosted VV pairs using jets in the calorimeter and tracking information. Dark Higgs scenarios with m_{s}>160  GeV are excluded.

Measurement of light-by-light scattering and search for axion-like particles with 2.2 nb−1 of Pb+Pb data with the ATLAS detector

2021

We thank CERN for the very successful operation of the LHC, as well as the support staff from our institutions without whom ATLAS could not be operated efficiently. We acknowledge the support of ANPCyT, Argentina; YerPhI, Armenia; ARC, Australia; BMWFW and FWF, Austria; ANAS, Azerbaijan; SSTC, Belarus; CNPq and FAPESP, Brazil; NSERC, NRC and CFI, Canada; CERN; ANID, Chile; CAS, MOST and NSFC, China; COLCIENCIAS, Colombia; MSMT CR, MPO CR and VSC CR, Czech Republic; DNRF and DNSRC, Denmark; IN2P3-CNRS and CEA-DRF/IRFU, France; SRNSFG, Georgia; BMBF, HGF and MPG, Germany; GSRT, Greece; RGC and Hong Kong SAR, China; ISF and Benoziyo Center, Israel; INFN, Italy; MEXT and JSPS, Japan; CNRST, Mor…

Search for Displaced Leptons in s=13  TeV pp Collisions with the ATLAS Detector

2021

A search for charged leptons with large impact parameters using 139  fb^{-1} of sqrt[s]=13  TeV pp collision data from the ATLAS detector at the LHC is presented, addressing a long-standing gap in coverage of possible new physics signatures. Results are consistent with the background prediction. This search provides unique sensitivity to long-lived scalar supersymmetric lepton partners (sleptons). For lifetimes of 0.1 ns, selectron, smuon, and stau masses up to 720, 680, and 340  GeV, respectively, are excluded at 95% confidence level, drastically improving on the previous best limits from LEP.