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  1. 361
    “…The planar assay was modified using the LI-COR (R) detection system (fluorescence based) rather than chemiluminescence and semi-quantitative outcomes were achieved by normalizing the outcomes using the automated exposure settings of the Odyssey readout device. The results were compared to the gold standard assay, namely ELISA. …”
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    Improving membrane based multiplex immunoassays for semi-quantitative detection of multiple cytokines in a single sample
  2. 362
    “…For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. …”
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    Clinical and genetic characterization of leukoencephalopathies in adults
  3. 363
    “…Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,” improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. …”
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    International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
  4. 364
    “…Although it is a severe disease, with no treatment available, early detection would allow adequate genetic counseling avoiding the odyssey that suffered most of these families.…”
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    An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
  5. 365
    “…CONCLUSION: We present a clinical odyssey showing the natural progression and history of FCPs in TSC and comment on the mechanistic pathways allowing potential interventions in this disfiguring condition. …”
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    Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2.
  6. 366
    “…In this work we describe the diagnostic odyssey of one SMA patient in whom routine diagnostics identified only a maternal heterozygous SMN1Δ(7–8) deletion. …”
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    Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing
  7. 367
    “…Detection was with fluorescent secondary antibodies visualized by the LI-COR Odyssey CLx imaging system and quantified with standard curves of recombinant lacritin. …”
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    Development of a Quantitative Immunoassay for Tear Lacritin Proteoforms
  8. 368
    “…Ultimately, our goal is to provide a fast and effective tool to screen for virtually all LSDs in a single run, thus contributing to decrease the diagnostic odyssey, accelerating the time to diagnosis. Our study enrolled a group of 23 patients with variable degrees of clinical and/or biochemical suspicion of LSD. …”
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    Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
  9. 369
    “…This case emphasizes the diagnostic odyssey, the benefits of genomic testing and importance of a correct diagnosis in order to initiate appropriate therapy. …”
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    Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia
  10. 370
    “…The most recent outcomes trial FOURIER with evolocumab showed that a 25 nmol/L (12 mg/dL) reduction in Lp(a) corresponded to a 15% decrement in the relative risk of cardiovascular disease. The ODYSSEY OUTCOMES trial with alirocumab has been the first demonstrating that a reduction in Lp(a) associates with less major adverse cardiovascular events (MACE), i.e. hazard ratio: 0.994 per 1 mg/dL decrement in Lp(a). …”
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    Lipoprotein(a) and PCSK9 inhibition: clinical evidence
  11. 371
    “…We performed whole-genome sequencing analysis of samples obtained from patients participating in the ongoing ODYSSEY phase 3 study of hospitalised patients with severe COVID-19 infection receiving supplemental oxygen support. …”
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    Loss-of-function mutations in IFNAR2 in COVID-19 severe infection susceptibility
  12. 372
    “…This paper summarizes a sixty-year Odyssey.…”
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    A Molecular Pinball Machine of the Plasma Membrane Regulates Plant Growth—A New Paradigm
  13. 373
    “…Our findings led to the diagnosis of the proband’s disease as Pelizaeus-Merzbacher-Like Disease 1 and led to the end of the diagnostic odyssey. We provided effective genetic counseling through the identification of a novel pathogenic mutation in gap junction protein C2 in this family and suggested preimplantation genetic diagnosis for the next pregnancy. …”
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    Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report
  14. 374
    “…Our report expands the variant and phenotypic spectrum of IGF1R-related disorders and illustrates benefits and feasibility of reassessing a VUS beyond the initial molecular diagnosis by deep phenotyping, 3D modeling, additional biochemical testing, and familial segregation studies through the URDC, a multidisciplinary clinical program whose major goal is to end the diagnostic odyssey in patients with rare diseases.…”
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    Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM–URDC (Undiagnosed Rare Disease Clinic) program
  15. 375
    “…Roughly 50% of patients with a Mendelian genetic disorder are diagnosed using NGS, but a fair number of patients still suffer a diagnostic odyssey. Due to the inherent diversity of the human population, as more exomes or genomes are sequenced, variants of uncertain significance (VUSs) will increase exponentially. …”
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    Molecular Modelling Hurdle in the Next-Generation Sequencing Era
  16. 376
    “…The most effective dust assimilation is found to require both CIDO (from Mars Odyssey/THEMIS) and LIDO observations, especially for Mars Climate Sounder data that does not access levels close to the surface. …”
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    Assimilation of Both Column‐ and Layer‐Integrated Dust Opacity Observations in the Martian Atmosphere
  17. 377
    “…Increased clinical recognition of this mixed glomerular and tubulointerstitial disease with often mild or absent features of a typical ciliopathy as well as inclusion of TTC21B on gene panels for early‐onset arterial hypertension might shorten the diagnostic odyssey for patients affected by this rare tubuloglomerular kidney disease.…”
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    Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease
  18. 378
    “…The two main studies on anti-PCSK9 antibodies, the FOURIER study for evolocumab and the ODYSSEY OUTCOMES study for alirocumab, highlighted the effectiveness in reducing LDL-C levels and its translation in a lower event rate of around 15%. …”
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    Reduction of cerebrovascular and peripheral events with PCSK9 inhibitors: Does it just depend on the lowering of the low-density lipoprotein?
  19. 379
    “…RECENT FINDINGS: While safety results reported in either meta-analyses or cardiovascular outcome trials FOURIER (with evolocumab) and ODYSSEY (with alirocumab) did not rise the incidence of NOD, Mendelian randomization analyses were almost concordant in showing an increased risk of NOD. …”
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    PCSK9 Inhibition and Risk of Diabetes: Should We Worry?
  20. 380
    “…This causes a diagnostic odyssey and prevents specific treatment, as well as genetic counseling for further family planning. …”
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    Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases
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