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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

Journal of medical genetics

Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D.
PMID: 33879512
J Med Genet. 2021 Apr 20; doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20.

PURPOSE: The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand...

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Molina-Ramírez LP, Kyle C, Ellingford JM, et al. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. J Med Genet. 2021;doi: 10.1136/jmedgenet-2020-107303.
Molina-Ramírez, L. P., Kyle, C., Ellingford, J. M., Wright, R., Taylor, A., Bhaskar, S. S., Campbell, C., Jackson, H., Fairclough, A., Rousseau, A., Burghel, G. J., Dutton, L., Banka, S., Briggs, T. A., Clayton-Smith, J., Douzgou, S., Jones, E. A., Kingston, H. M., Kerr, B., Ealing, J., Somarathi, S., Chandler, K. E., Stuart, H. M., Burkitt-Wright, E. M., Newman, W. G., Bruce, I. A., Black, G. C., & Gokhale, D. (2021). Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2020-107303
Molina-Ramírez, Leslie Patricia, et al. "Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2020-107303
Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. J Med Genet. 2021 Apr 20; doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20. PMID: 33879512.
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Age, growth and reproductive life-history characteristics infer a high population productivity for the sustainably fished protogynous hermaphroditic yellowspotted rockcod (Epinephelus areolatus) in north-western Australia.

Journal of fish biology

Boddington DK, Wakefield CB, Fisher EA, Fairclough DV, Harvey ES, Newman SJ.
PMID: 34431089
J Fish Biol. 2021 Dec;99(6):1869-1886. doi: 10.1111/jfb.14889. Epub 2021 Sep 06.

The yellowspotted rockcod, Epinephelus areolatus, is a small-sized grouper that is widely distributed throughout the Indo-Pacific, where it forms a valuable component of the harvest derived from multispecies fisheries along continental and insular shelves. Samples of E. areolatus were...

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Boddington DK, Wakefield CB, Fisher EA, et al. Age, growth and reproductive life-history characteristics infer a high population productivity for the sustainably fished protogynous hermaphroditic yellowspotted rockcod (Epinephelus areolatus) in north-western Australia. J Fish Biol. 2021;99(6):1869-1886doi: 10.1111/jfb.14889.
Boddington, D. K., Wakefield, C. B., Fisher, E. A., Fairclough, D. V., Harvey, E. S., & Newman, S. J. (2021). Age, growth and reproductive life-history characteristics infer a high population productivity for the sustainably fished protogynous hermaphroditic yellowspotted rockcod (Epinephelus areolatus) in north-western Australia. Journal of fish biology, 99(6), 1869-1886. https://doi.org/10.1111/jfb.14889
Boddington, Dion K, et al. "Age, growth and reproductive life-history characteristics infer a high population productivity for the sustainably fished protogynous hermaphroditic yellowspotted rockcod (Epinephelus areolatus) in north-western Australia." Journal of fish biology vol. 99,6 (2021): 1869-1886. doi: https://doi.org/10.1111/jfb.14889
Boddington DK, Wakefield CB, Fisher EA, Fairclough DV, Harvey ES, Newman SJ. Age, growth and reproductive life-history characteristics infer a high population productivity for the sustainably fished protogynous hermaphroditic yellowspotted rockcod (Epinephelus areolatus) in north-western Australia. J Fish Biol. 2021 Dec;99(6):1869-1886. doi: 10.1111/jfb.14889. Epub 2021 Sep 06. PMID: 34431089.
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Complementary evidence for small-scale spatial assemblages of the exploited grass emperor (Lethrinus laticaudis) in the Shark Bay World Heritage Area, Western Australia.

Marine environmental research

Fairclough DV, Ayvazian SG, Newman SJ.
PMID: 34952373
Mar Environ Res. 2021 Dec 18;173:105543. doi: 10.1016/j.marenvres.2021.105543. Epub 2021 Dec 18.

Understanding the connectivity of exploited fish populations is critical to their management under both rapid and long-term environmental change. Patterns of connectivity are unknown for most fishes in the Shark Bay World Heritage Area (Western Australia), a large, shallow...

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Fairclough DV, Ayvazian SG, Newman SJ. Complementary evidence for small-scale spatial assemblages of the exploited grass emperor (Lethrinus laticaudis) in the Shark Bay World Heritage Area, Western Australia. Mar Environ Res. 2021;173:105543doi: 10.1016/j.marenvres.2021.105543.
Fairclough, D. V., Ayvazian, S. G., & Newman, S. J. (2021). Complementary evidence for small-scale spatial assemblages of the exploited grass emperor (Lethrinus laticaudis) in the Shark Bay World Heritage Area, Western Australia. Marine environmental research, 173105543. https://doi.org/10.1016/j.marenvres.2021.105543
Fairclough, David V, et al. "Complementary evidence for small-scale spatial assemblages of the exploited grass emperor (Lethrinus laticaudis) in the Shark Bay World Heritage Area, Western Australia." Marine environmental research vol. 173 (2021): 105543. doi: https://doi.org/10.1016/j.marenvres.2021.105543
Fairclough DV, Ayvazian SG, Newman SJ. Complementary evidence for small-scale spatial assemblages of the exploited grass emperor (Lethrinus laticaudis) in the Shark Bay World Heritage Area, Western Australia. Mar Environ Res. 2021 Dec 18;173:105543. doi: 10.1016/j.marenvres.2021.105543. Epub 2021 Dec 18. PMID: 34952373.
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Relationship between Anxiety, Depression and Susceptibility to SARS-CoV-2 Infection: Proof of Concept.

The Journal of infectious diseases

Vedhara K, Ayling K, Jia R, Fairclough L, Morling JR, Ball JK, Knight H, Blake H, Corner J, Denning C, Bolton K, Jackson H, Coupland C, Tighe P.
PMID: 35022740
J Infect Dis. 2022 Jan 12; doi: 10.1093/infdis/jiac006. Epub 2022 Jan 12.

Psychological factors can influence susceptibility to viral infections. We examined whether such influences are evident in SARS-CoV-2 infection. Participants (n=102) completed measures of anxiety, depression, positive mood and loneliness and provided a blood sample for the measurement of antibodies...

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Vedhara K, Ayling K, Jia R, et al. Relationship between Anxiety, Depression and Susceptibility to SARS-CoV-2 Infection: Proof of Concept. J Infect Dis. 2022;doi: 10.1093/infdis/jiac006.
Vedhara, K., Ayling, K., Jia, R., Fairclough, L., Morling, J. R., Ball, J. K., Knight, H., Blake, H., Corner, J., Denning, C., Bolton, K., Jackson, H., Coupland, C., & Tighe, P. (2022). Relationship between Anxiety, Depression and Susceptibility to SARS-CoV-2 Infection: Proof of Concept. The Journal of infectious diseases, . https://doi.org/10.1093/infdis/jiac006
Vedhara, Kavita, et al. "Relationship between Anxiety, Depression and Susceptibility to SARS-CoV-2 Infection: Proof of Concept." The Journal of infectious diseases vol. (2022). doi: https://doi.org/10.1093/infdis/jiac006
Vedhara K, Ayling K, Jia R, Fairclough L, Morling JR, Ball JK, Knight H, Blake H, Corner J, Denning C, Bolton K, Jackson H, Coupland C, Tighe P. Relationship between Anxiety, Depression and Susceptibility to SARS-CoV-2 Infection: Proof of Concept. J Infect Dis. 2022 Jan 12; doi: 10.1093/infdis/jiac006. Epub 2022 Jan 12. PMID: 35022740.
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Soluble TIM3 and Its Ligands Galectin-9 and CEACAM1 Are in Disequilibrium During Alcohol-Related Liver Disease and Promote Impairment of Anti-bacterial Immunity.

Frontiers in physiology

Riva A, Palma E, Devshi D, Corrigall D, Adams H, Heaton N, Menon K, Preziosi M, Zamalloa A, Miquel R, Ryan JM, Wright G, Fairclough S, Evans A, Shawcross D, Schierwagen R, Klein S, Uschner FE, Praktiknjo M, Katzarov K, Hadzhiolova T, Pavlova S, Simonova M, Trebicka J, Williams R, Chokshi S.
PMID: 33776793
Front Physiol. 2021 Mar 10;12:632502. doi: 10.3389/fphys.2021.632502. eCollection 2021.

BACKGROUND AND AIMS: Immunoregulatory checkpoint receptors (CR) contribute to the profound immunoparesis observed in alcohol-related liver disease (ALD) and METHODS: In Alcoholic Hepatitis (AH; RESULTS: Soluble-TIM3 was the dominant plasma soluble-CR in ALD vs. HC (CONCLUSIONS: Alcohol-related liver disease...

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Riva A, Palma E, Devshi D, et al. Soluble TIM3 and Its Ligands Galectin-9 and CEACAM1 Are in Disequilibrium During Alcohol-Related Liver Disease and Promote Impairment of Anti-bacterial Immunity. Front Physiol. 2021;12:632502doi: 10.3389/fphys.2021.632502.
Riva, A., Palma, E., Devshi, D., Corrigall, D., Adams, H., Heaton, N., Menon, K., Preziosi, M., Zamalloa, A., Miquel, R., Ryan, J. M., Wright, G., Fairclough, S., Evans, A., Shawcross, D., Schierwagen, R., Klein, S., Uschner, F. E., Praktiknjo, M., Katzarov, K., Hadzhiolova, T., Pavlova, S., Simonova, M., Trebicka, J., Williams, R., & Chokshi, S. (2021). Soluble TIM3 and Its Ligands Galectin-9 and CEACAM1 Are in Disequilibrium During Alcohol-Related Liver Disease and Promote Impairment of Anti-bacterial Immunity. Frontiers in physiology, 12632502. https://doi.org/10.3389/fphys.2021.632502
Riva, Antonio, et al. "Soluble TIM3 and Its Ligands Galectin-9 and CEACAM1 Are in Disequilibrium During Alcohol-Related Liver Disease and Promote Impairment of Anti-bacterial Immunity." Frontiers in physiology vol. 12 (2021): 632502. doi: https://doi.org/10.3389/fphys.2021.632502
Riva A, Palma E, Devshi D, Corrigall D, Adams H, Heaton N, Menon K, Preziosi M, Zamalloa A, Miquel R, Ryan JM, Wright G, Fairclough S, Evans A, Shawcross D, Schierwagen R, Klein S, Uschner FE, Praktiknjo M, Katzarov K, Hadzhiolova T, Pavlova S, Simonova M, Trebicka J, Williams R, Chokshi S. Soluble TIM3 and Its Ligands Galectin-9 and CEACAM1 Are in Disequilibrium During Alcohol-Related Liver Disease and Promote Impairment of Anti-bacterial Immunity. Front Physiol. 2021 Mar 10;12:632502. doi: 10.3389/fphys.2021.632502. eCollection 2021. PMID: 33776793; PMCID: PMC7987668.
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Showing 121 to 125 of 125 entries