skip to main content


Search for: All records

Creators/Authors contains: "Bernhard, J."

Note: When clicking on a Digital Object Identifier (DOI) number, you will be taken to an external site maintained by the publisher. Some full text articles may not yet be available without a charge during the embargo (administrative interval).
What is a DOI Number?

Some links on this page may take you to non-federal websites. Their policies may differ from this site.

  1. null (Ed.)
  2. A bstract The NA62 experiment at CERN targets the measurement of the ultra-rare $$ {K}^{+}\to {\pi}^{+}\nu \overline{\nu} $$ K + → π + ν ν ¯ decay, and carries out a broad physics programme that includes probes for symmetry violations and searches for exotic particles. Data were collected in 2016–2018 using a multi-level trigger system, which is described highlighting performance studies based on 2018 data. 
    more » « less
  3. Abstract

    Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice.

     
    more » « less
  4. A bstract A sample of 2 . 8 × 10 4 K + → π + μ + μ − candidates with negligible background was collected by the NA62 experiment at the CERN SPS in 2017–2018. The model-independent branching fraction is measured to be (9 . 15 ± 0 . 08) × 10 − 8 , a factor three more precise than previous measurements. The decay form factor is presented as a function of the squared dimuon mass. A measurement of the form factor parameters and their uncertainties is performed using a description based on Chiral Perturbation Theory at $$ \mathcal{O} $$ O ( p 6 ). 
    more » « less