| 1. |
- Mullins, N., et al.
(author)
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
- 2021
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 53, s. 817-829
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Journal article (peer-reviewed)abstract
- Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.
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| 2. |
- Abbafati, Cristiana, et al.
(author)
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- 2020
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Journal article (peer-reviewed)
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| 3. |
- Wong, LY, et al.
(author)
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Long-term outcomes after severe drug overdose
- 2016
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In: Critical care and resuscitation : journal of the Australasian Academy of Critical Care Medicine. - 1441-2772. ; 18:4, s. 247-254
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Journal article (peer-reviewed)
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| 4. |
- Eratne, D., et al.
(author)
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Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings
- 2022
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In: Alzheimers & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 18:11, s. 2218-2233
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Journal article (peer-reviewed)abstract
- Introduction Many patients with cognitive and neuropsychiatric symptoms face diagnostic delay and misdiagnosis. We investigated whether cerebrospinal fluid (CSF) neurofilament light (NfL) and total-tau (t-tau) could assist in the clinical scenario of differentiating neurodegenerative (ND) from psychiatric disorders (PSY), and rapidly progressive disorders. Methods Biomarkers were examined in patients from specialist services (ND and PSY) and a national Creutzfeldt-Jakob registry (Creutzfeldt-Jakob disease [CJD] and rapidly progressive dementias/atypically rapid variants of common ND, RapidND). Results A total of 498 participants were included: 197 ND, 67 PSY, 161 CJD, 48 RapidND, and 20 controls. NfL was elevated in ND compared to PSY and controls, with highest levels in CJD and RapidND. NfL distinguished ND from PSY with 95%/78% positive/negative predictive value, 92%/87% sensitivity/specificity, 91% accuracy. NfL outperformed t-tau in most real-life clinical diagnostic dilemma scenarios, except distinguishing CJD from RapidND. Discussion We demonstrated strong generalizable evidence for the diagnostic utility of CSF NfL in differentiating ND from psychiatric disorders, with high accuracy.
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| 5. |
- Whitten, Devin D., et al.
(author)
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The Photometric Metallicity and Carbon Distributions of the Milky Way's Halo and Solar Neighborhood from S-PLUS Observations of SDSS Stripe 82
- 2021
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In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 912:2
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Journal article (peer-reviewed)abstract
- We report photometric estimates of effective temperature, T (eff), metallicity, [Fe/H], carbonicity, [C/Fe], and absolute carbon abundances, A(C), for over 700,000 stars from the Southern Photometric Local Universe Survey (S-PLUS) Data Release 2, covering a substantial fraction of the equatorial Sloan Digital Sky Survey Stripe 82. We present an analysis for two stellar populations: (1) halo main-sequence turnoff stars and (2) K-dwarf stars of mass 0.58 < M/M (circle dot) < 0.75 in the Solar Neighborhood. Application of the Stellar Photometric Index Network Explorer (SPHINX) to the mixed-bandwidth (narrow- plus wide-band) filter photometry from S-PLUS produces robust estimates of the metallicities and carbon abundances in stellar atmospheres over a wide range of temperatures, 4250 < T (eff)(K) < 7000. The use of multiple narrow-band S-PLUS filters enables SPHINX to achieve substantially lower levels of catastrophic failures (i.e., large offsets in metallicity estimates relative to spectroscopic determinations) than previous efforts using a single metallicity-sensitive narrow-band filter. We constrain the exponential slope of the Milky Way's K-dwarf halo metallicity distribution function (MDF), lambda (10,[Fe/H]) = 0.85 +/- 0.21, over the metallicity range -2.5 < [Fe/H] < -1.0; the MDF of our local-volume K-dwarf sample is well-represented by a gamma distribution with parameters alpha = 2.8 and beta = 4.2. S-PLUS photometry obtains absolute carbon abundances with a precision of similar to 0.35 dex for stars with T (eff) < 6500 K. We identify 364 candidate carbon-enhanced metal-poor stars, obtain assignments of these stars into the Yoon-Beers morphological groups in the A(C)-[Fe/H] space, and we derive the CEMP frequencies.
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