Publications by authors named "Nicolas Schaefer"

Article Synopsis
  • Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
  • A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
  • The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
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Background: Computational simulation of biological processes can be a valuable tool for accelerating biomedical research, but usually requires extensive domain knowledge and manual adaptation. Large language models (LLMs) such as GPT-4 have proven surprisingly successful for a wide range of tasks. This study provides proof-of-concept for the use of GPT-4 as a versatile simulator of biological systems.

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Article Synopsis
  • Variants of uncertain significance (VUS) present challenges in diagnosing rare diseases, and episignatures have emerged as potential biomarkers to help classify these variants.
  • A study analyzed DNA methylation data from different groups, including carriers of pathogenic variants and healthy controls, using a k-nearest-neighbour classifier to assess the predictive abilities of various episignatures.
  • Results revealed that while some signatures (ATRX, DNMT3A, KMT2D, NSD1) achieved 100% sensitivity, others (CREBBP-RSTS, CHD8) showed lower performance, indicating that not all episignatures are equally reliable for diagnostic use and highlighting the need for further validation with larger sample sizes.
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The management of prostate cancer is undergoing rapid changes in all disease settings. Novel imaging tools for diagnosis have been introduced, and the treatment of high-risk localized, locally advanced and metastatic disease has changed considerably in recent years. From clinical and health-economic perspectives, a rational and optimal use of the available options is of the utmost importance.

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The range of vaccines developed against severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) provides a unique opportunity to study immunization across different platforms. In a single-center cohort, we analyzed the humoral and cellular immune compartments following five coronavirus disease 2019 (COVID-19) vaccines spanning three technologies (adenoviral, mRNA and inactivated virus) administered in 16 combinations. For adenoviral and inactivated-virus vaccines, heterologous combinations were generally more immunogenic compared to homologous regimens.

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Article Synopsis
  • - Cornelia de Lange syndrome (CdLS) is a rare developmental disorder with about 50% of cases lacking a known genetic cause, despite existing gene tests.
  • - Researchers conducted whole genome and RNA sequencing on five unresolved cases, discovering pathogenic mutations in three patients and deep intronic variations in the other two.
  • - The study highlights the importance of whole genome sequencing in identifying genetic issues in CdLS and suggests that deep intronic mutations might be significant in some unsolved cases.
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  • Pathogenic variants in the MYT1L gene lead to a neurodevelopmental disorder characterized by features like developmental delays, intellectual disabilities, and behavioral disorders.
  • A study analyzed genetic data from 40 previously unreported patients, adding to a total of 62 patients to better understand the clinical characteristics and genotype-phenotype correlations.
  • The research confirmed key phenotypic traits, introduced new clinical features, and emphasized that patients with certain genetic variants do not show distinct clinical differences, aiding in improved diagnosis and management of the disorder.
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Background: Hepatic encephalopathy (HE) is a frequent neurological complication of cirrhosis. Evidence suggests a synergic pathophysiological implication of hyperammonemia and systemic inflammation. In addition, the blood-brain barrier (BBB) permeability can be impaired in cirrhotic patients, notably in those displaying HE.

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White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element-derived protein with zinc finger domain (POGZ) variants. The purpose of our study was to describe the neurocognitive phenotype of an unbiased national cohort of patients with identified POGZ pathogenic variants. This study is based on a French collaboration through the AnDDI-Rares network, and includes 19 patients from 18 families with POGZ pathogenic variants.

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With intensified pediatric-like therapy and genetic disease dissection, the field of adult acute lymphoblastic leukemia (ALL) has evolved recently. In this new context, we aimed to reassess the value of conventional risk factors with regard to new genetic alterations and early response to therapy, as assessed by immunoglobulin/T-cell receptor minimal residual disease (MRD) levels. The study was performed in 423 younger adults with Philadelphia chromosome-negative ALL in first remission (265 B-cell precursor [BCP] and 158 T-cell ALL), with cumulative incidence of relapse (CIR) as the primary end point.

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A search is reported for the pair production of a new quark b' with at least one b' decaying to a Z boson and a bottom quark. The data, corresponding to 2.0 fb(-1) of integrated luminosity, were collected from pp collisions at √s = 7 TeV with the ATLAS detector at the CERN Large Hadron Collider.

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A search for the weak production of charginos and neutralinos decaying to a final state with three leptons (electrons or muons) and missing transverse momentum is presented. The analysis uses 2.06 fb(-1) of √[s]=7 TeV proton-proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector.

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A search is presented for gluinos decaying via the supersymmetric partner of the top quark using events with two same-sign leptons, jets, and missing transverse momentum. The analysis is performed with 2.05  fb(-1) of integrated luminosity from pp collisions at sqrt[s]=7  TeV collected by the ATLAS detector at the LHC.

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A measurement of spin correlation in tt[over ¯] production is reported using data collected with the ATLAS detector at the LHC, corresponding to an integrated luminosity of 2.1 fb(-1). Candidate events are selected in the dilepton topology with large missing transverse energy and at least two jets.

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This Letter presents a search for tb resonances in 1.04 fb(-1) of LHC proton-proton collision data collected by the ATLAS detector at a center-of-mass energy of 7 TeV. Events with a lepton, missing transverse momentum, and two jets are selected and the invariant mass of the corresponding final state is reconstructed.

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A search for the standard model Higgs boson is performed in the diphoton decay channel. The data used correspond to an integrated luminosity of 4.9 fb(-1) collected with the ATLAS detector at the Large Hadron Collider in proton-proton collisions at a center-of-mass energy of √s=7 TeV.

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Article Synopsis
  • - The paper discusses a measurement of polarization in particle decays involving a single charged particle in the final state, focusing on data collected by the ATLAS experiment at the Large Hadron Collider in 2010.
  • - The results show that the measured polarization value aligns with the Standard Model prediction and falls within a 95% confidence limit interval of [-1, -0.91].
  • - This research represents the first instance of polarization measurements being conducted at hadron colliders, marking a significant advancement in the field.
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A measurement of the jet activity in [Formula: see text] events produced in proton-proton collisions at a centre-of-mass energy of 7 TeV is presented, using 2.05 fb of integrated luminosity collected by the ATLAS detector at the Large Hadron Collider. The [Formula: see text] events are selected in the dilepton decay channel with two identified -jets from the top quark decays.

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Indirect evidence for the presence of intrinsic factor in amniotic fluid has been provided recently, using either a radioisotope binding assay or a radioimmunoassay. We have determined the unsaturated cobalamin binding capacity and the physicochemical properties of the 3 cobalamin binding proteins in 59 amniotic fluids using radioisotope binding assay, gel filtration and isoelectrofocussing. A good correlation with gestational age was found for the total unsaturated Cbl binding capacity (r = 0.

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