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Sökning: WFRF:(Turro Nicholas J.)

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1.
  • Turro, Ernest, et al. (författare)
  • Whole-genome sequencing of patients with rare diseases in a national health system.
  • 2020
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 583:7814, s. 96-102
  • Tidskriftsartikel (refereegranskat)abstract
    • Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065extensively phenotypedparticipants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data ofUK Biobankparticipants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
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2.
  • He, Guang S., et al. (författare)
  • Dynamic properties and optical phase conjugation of two-photon pumped ultrashort blue stimulated emission in a chromophore solution
  • 2008
  • Ingår i: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947 .- 1094-1622. ; 77:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The dynamic properties of two-photon pumped blue lasing (similar to 470 nm) in the solution of an organic chromophore [2-acetyl-6-(dimethylamino)naphthalene], excited by similar to 160-fs laser pulses at similar to 775 nm, have been studied. Both the forward and backward stimulated emission are enhanced by feedback from the reflection at the two optical windows of the solution filled cuvette. Under current experimental conditions, the lasing wavelengths in the forward and backward directions were almost the same, but both blueshifted compared to the fluorescence peak wavelength of the sample solution. The temporal behavior of the lasing output was recorded by a high-speed streak camera system. The multipulse structure and spectral properties of the output lasing are semiquantitatively explained. In addition, excellent optical phase-conjugation properties of the backward stimulated emission were observed; the aberration influences from an aberrator on the backward lasing beam were automatically removed.
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