13 research outputs found

    Magnetic properties of ultrathin Co(0001) films on vicinal Si(111) substrate

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    In the present work we report on magnetization reversal process, anisotropy and domain structures in ultrathin Au/Co(0001)/Au films deposited on vicinal Si(111) substrates. The measurements were performed using a magneto-optical Kerr effect based magnetometer, a polarizing optical microscope and a ferromagnetic resonance spectrometer. Co thickness induced spin-reorientation from out-of-plane into in-plane magnetization was studied. Changes of in-plane magnetic anisotropy symmetry were deduced from shapes of magneto-optical hysteresis loops and from analysis of angular dependences of the resonance field. The experimental data have been discussed taking into account both uniaxial out-of-plane anisotropy and step-induced uniaxial in-plane anisotropy. A preferential orientation of domain walls in 3ML thick Co films was observed. The finding is explained by the step-induced magnetic anisotropy

    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

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    Purpose With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations. Methods We performed trio whole genome sequence (WGS) analysis on a prospective cohort of families recruited in NICU and PICU at a single site in the UK. We developed a research pipeline in collaboration with the National Health Service to deliver validated pertinent pathogenic findings within 2andndash;3andnbsp;weeks of recruitment. Results A total of 195 families had whole genome analysis performed (567 samples) and 21% received a molecular diagnosis for the underlying genetic condition in the child. The phenotypic description of the child was a poor predictor of the gene identified in 90% of cases, arguing for gene agnostic testing in NICU/PICU. The diagnosis affected clinical management in more than 65% of cases (83% in neonates) including modification of treatments and care pathways and/or informing palliative care decisions. A 2andndash;3andnbsp;week turnaround was sufficient to impact most clinical decision-making. Conclusions The use of WGS in intensively ill children is acceptable and trio analysis facilitates diagnoses. A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection. WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.</p

    Interfaces contributions to the nonlinear magneto-optical response of quantum well states

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    Contains fulltext : 29748___.PDF (publisher's version ) (Open Access

    Nonlinear magneto-optical Kerr effect study of quantum-well states in a Au overlayer on a Co(0001) thin film

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    Contains fulltext : 29767___.PDF (publisher's version ) (Open Access

    Theoretical prediction and experimental evidence of a novel oscillatory behaviour of interlayer magnetic coupling

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    The interlayer magnetic coupling between ferromagnetic layers separated by a non-magnetic spacer layer is investigated with emphasis on the role of the non-magnetic overlayer. By using a recently proposed theory of interlayer coupling, which expresses the coupling in terms of quantum interferences due to electron confinement, it is predicted that the coupling oscillates vs. overlayer thickness, with a period related to the Fermi surface of the latter. This prediction has been confirmed experimentally on Au/Co/Au/Co/Au(111) films, with an oscillation period vs. Au overlayer thickness of 5 atomic layers, in good agreement with the predicted value (4.8 atomic layers).

    Au island growth on a Si(111) vicinal surface

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    Au island nucleation and growth on a Si(111) 7 · 7 vicinal surface was studied by means of scanning tunneling microscopy. The surfacewas prepared to have a regular array of step bunches. Growth temperature and Au coverage were varied in the 255–430 C substratetemperature range and from 1 to 7 monolayers, respectively. Two kinds of islands are observed on the surface: Au–Si reconstructedislands on the terraces and three-dimensional (3D) islands along the step bunches. Focusing on the latter, the dependence of island density,size and position on substrate temperature and on Au coverage is investigated. At 340 C and above, hemispherical 3D islandsnucleate systematically on the step edges

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

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    Abstract Background Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), resolve the precise variant configuration and investigate possible mechanisms of cxSV formation. Methods We performed short-read WGS and analysis of breakpoint junctions to identify cxSVs in a cohort of 1324 undiagnosed rare disease patients. Long-read WGS and gene expression analysis were used to resolve one case. Results We identified three pathogenic cxSVs: a de novo duplication-inversion-inversion-deletion affecting ARID1B, a de novo deletion-inversion-duplication affecting HNRNPU and a homozygous deletion-inversion-deletion affecting CEP78. Additionally, a de novo duplication-inversion-duplication overlapping CDKL5 was resolved by long-read WGS demonstrating the presence of both a disrupted and an intact copy of CDKL5 on the same allele, and gene expression analysis showed both parental alleles of CDKL5 were expressed. Breakpoint analysis in all the cxSVs revealed both microhomology and longer repetitive elements. Conclusions Our results corroborate that cxSVs cause Mendelian disease, and we recommend their consideration during clinical investigations. We show that resolution of breakpoints can be critical to interpret pathogenicity and present evidence of replication-based mechanisms in cxSV formation
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