Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.

Pathogenic PHIP Variants are Variably Associated With CAKUT.

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney disease in children. Although only 20% of cases can be genetically explained, the majority remain without an identified underlying etiology. The neurodevelopmental disorder Chung-Jansen syndrome (CHUJANS) is caused by haploinsufficiency of Pleckstrin homology domain-interacting protein (PHIP) and was previously associated with genital malformations.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1 mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals).

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability.

Methods: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro.

-associated Chung-Jansen syndrome: Report of 23 new individuals.

In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism and obesity (CHUJANS, OMIM #617991). So far, alterations appear to be a rare cause of DD/ID. "Omics" technologies such as exome sequencing or array analyses have led to the identification of distinct types of alterations of , including, truncating variants, missense substitutions, splice variants and large deletions encompassing portions of the gene or the entire gene as well as adjacent genomic regions.

Erratum to: Measurement of the boson polarisation in events from collisions at in the lepton + jets channel with ATLAS.

[This corrects the article DOI: 10.1140/epjc/s10052-017-4819-4.].

Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

Background: Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in situ hybridization (FISH), yet. In the latter case a critical region probe (CRP) is combined with a control probe for identification of the chromosome in question.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Purpose: To characterize the molecular genetics of autosomal recessive Noonan syndrome.

Methods: Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis.

Measurements of the production cross section of a [Formula: see text] boson in association with jets in collisions at [Formula: see text] TeV with the ATLAS detector.

Measurements of the production cross section of a [Formula: see text] boson in association with jets in proton-proton collisions at [Formula: see text] TeV are presented, using data corresponding to an integrated luminosity of 3.16 fb[Formula: see text] collected by the ATLAS experiment at the CERN Large Hadron Collider in 2015. Inclusive and differential cross sections are measured for events containing a [Formula: see text] boson decaying to electrons or muons and produced in association with up to seven jets with [Formula: see text] GeV and [Formula: see text].

Fiducial, total and differential cross-section measurements of -channel single top-quark production in collisions at 8 TeV using data collected by the ATLAS detector.

Detailed measurements of -channel single top-quark production are presented. They use 20.2 fb[Formula: see text] of data collected by the ATLAS experiment in proton-proton collisions at a centre-of-mass energy of 8 TeV at the LHC.

Reconstruction of primary vertices at the ATLAS experiment in Run 1 proton-proton collisions at the LHC.

This paper presents the method and performance of primary vertex reconstruction in proton-proton collision data recorded by the ATLAS experiment during Run 1 of the LHC. The studies presented focus on data taken during 2012 at a centre-of-mass energy of [Formula: see text] TeV. The performance has been measured as a function of the number of interactions per bunch crossing over a wide range, from one to seventy.

Performance of the ATLAS trigger system in 2015.

During 2015 the ATLAS experiment recorded [Formula: see text] of proton-proton collision data at a centre-of-mass energy of [Formula: see text]. The ATLAS trigger system is a crucial component of the experiment, responsible for selecting events of interest at a recording rate of approximately 1 kHz from up to 40 MHz of collisions. This paper presents a short overview of the changes to the trigger and data acquisition systems during the first long shutdown of the LHC and shows the performance of the trigger system and its components based on the 2015 proton-proton collision data.

Search for lepton-flavour-violating decays of the Higgs and bosons with the ATLAS detector.

Direct searches for lepton flavour violation in decays of the Higgs and bosons with the ATLAS detector at the LHC are presented. The following three decays are considered: [Formula: see text], [Formula: see text], and [Formula: see text]. The searches are based on the data sample of proton-proton collisions collected by the ATLAS detector corresponding to an integrated luminosity of 20.

Measurements of top-quark pair differential cross-sections in the [Formula: see text] channel in collisions at [Formula: see text] TeV using the ATLAS detector.

This article presents measurements of [Formula: see text] differential cross-sections in a fiducial phase-space region, using an integrated luminosity of 3.2 fb[Formula: see text] of proton-proton data at a centre-of-mass energy of [Formula: see text] TeV recorded by the ATLAS experiment at the LHC in 2015. Differential cross-sections are measured as a function of the transverse momentum and absolute rapidity of the top quark, and of the transverse momentum, absolute rapidity and invariant mass of the [Formula: see text] system.

Electron efficiency measurements with the ATLAS detector using 2012 LHC proton-proton collision data.

This paper describes the algorithms for the reconstruction and identification of electrons in the central region of the ATLAS detector at the Large Hadron Collider (LHC). These algorithms were used for all ATLAS results with electrons in the final state that are based on the 2012 collision data produced by the LHC at [Formula: see text] = 8 [Formula: see text]. The efficiency of these algorithms, together with the charge misidentification rate, is measured in data and evaluated in simulated samples using electrons from [Formula: see text], [Formula: see text] and [Formula: see text] decays.

Measurement of the boson polarisation in [Formula: see text] events from collisions at [Formula: see text] = 8 TeV in the lepton + jets channel with ATLAS.

This paper presents a measurement of the polarisation of bosons from [Formula: see text] decays, reconstructed in events with one high-[Formula: see text] lepton and at least four jets. Data from collisions at the LHC were collected at [Formula: see text] = 8 TeV and correspond to an integrated luminosity of 20.2 fb[Formula: see text].

Performance of algorithms that reconstruct missing transverse momentum in [Formula: see text]= 8 TeV proton-proton collisions in the ATLAS detector.

The reconstruction and calibration algorithms used to calculate missing transverse momentum ([Formula: see text] ) with the ATLAS detector exploit energy deposits in the calorimeter and tracks reconstructed in the inner detector as well as the muon spectrometer. Various strategies are used to suppress effects arising from additional proton-proton interactions, called pileup, concurrent with the hard-scatter processes. Tracking information is used to distinguish contributions from the pileup interactions using their vertex separation along the beam axis.

Measurement of jet activity produced in top-quark events with an electron, a muon and two -tagged jets in the final state in collisions at [Formula: see text] TeV with the ATLAS detector.

Measurements of jet activity in top-quark pair events produced in proton-proton collisions are presented, using 3.2 fb[Formula: see text] of collision data at a centre-of-mass energy of 13 TeV collected by the ATLAS experiment at the Large Hadron Collider. Events are chosen by requiring an opposite-charge [Formula: see text] pair and two -tagged jets in the final state.

Search for triboson [Formula: see text] production in collisions at [Formula: see text] [Formula: see text] with the ATLAS detector.

This paper reports a search for triboson [Formula: see text] production in two decay channels ([Formula: see text] and [Formula: see text] with [Formula: see text]) in proton-proton collision data corresponding to an integrated luminosity of 20.3 [Formula: see text] at a centre-of-mass energy of 8 [Formula: see text] with the ATLAS detector at the Large Hadron Collider. Events with exactly three charged leptons, or two leptons with the same electric charge in association with two jets, are selected.

Measurement of the prompt /[Formula: see text] pair production cross-section in collisions at [Formula: see text] TeV with the ATLAS detector.

The production of two prompt [Formula: see text] mesons, each with transverse momenta [Formula: see text] GeV and rapidity [Formula: see text], is studied using a sample of proton-proton collisions at [Formula: see text] TeV, corresponding to an integrated luminosity of 11.4 fb[Formula: see text] collected in 2012 with the ATLAS detector at the LHC. The differential cross-section, assuming unpolarised [Formula: see text] production, is measured as a function of the transverse momentum of the lower-[Formula: see text] [Formula: see text] meson, di-[Formula: see text] [Formula: see text] and mass, the difference in rapidity between the two [Formula: see text] mesons, and the azimuthal angle between the two [Formula: see text] mesons.

Measurement of the [Formula: see text] and [Formula: see text] production cross sections in multilepton final states using 3.2 fb[Formula: see text] of [Formula: see text] collisions at [Formula: see text] = 13 TeV with the ATLAS detector.

A measurement of the [Formula: see text] and [Formula: see text] production cross sections in final states with either two same-charge muons, or three or four leptons (electrons or muons) is presented. The analysis uses a data sample of proton-proton collisions at [Formula: see text] TeV recorded with the ATLAS detector at the Large Hadron Collider in 2015, corresponding to a total integrated luminosity of 3.2 fb[Formula: see text].

A measurement of the calorimeter response to single hadrons and determination of the jet energy scale uncertainty using LHC Run-1 -collision data with the ATLAS detector.

A measurement of the calorimeter response to isolated charged hadrons in the ATLAS detector at the LHC is presented. This measurement is performed with 3.2 nb[Formula: see text] of proton-proton collision data at [Formula: see text] [Formula: see text] from 2010 and 0.