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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: kelly d. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Relationship between molecular pathogen detection and clinical disease in febrile children across Europe: a multicentre, prospective observational study.
Shah P, Voice M, Calvo-Bado L, Rivero-Calle I, Morris S, Nijman R, Broderick C, De T, Eleftheriou I, Galassini R, Khanijau A, Kolberg L, Kolnik M, Rudzate A, Sagmeister MG, Schweintzger NA, Secka F, Thakker C, van der Velden F, Vermont C, Vincek K, Agyeman PKA, Cunnington AJ, De Groot R, Emonts M, Fidler K, Kuijpers TW, Mommert-Tripon M, Brengel-Pesce K, Mallet F, Moll H, Paulus S, Pokorn M, Pollard A, Schlapbach LJ, Shen CF, Tsolia M, Usuf E, van der Flier M, von Both U, Yeung S, Zavadska D, Zenz W, Wright V, Carrol ED, Kaforou M, Martinon-Torres F, Fink C, Levin M, Herberg J; PERFORM consortium. Shah P, et al. Lancet Reg Health Eur. 2023 Jul 26;32:100682. doi: 10.1016/j.lanepe.2023.100682. eCollection 2023 Sep. Lancet Reg Health Eur. 2023. PMID: 37554664 Free PMC article.
Febrile illness in high-risk children: a prospective, international observational study.
van der Velden FJS, de Vries G, Martin A, Lim E, von Both U, Kolberg L, Carrol ED, Khanijau A, Herberg JA, De T, Galassini R, Kuijpers TW, Martinón-Torres F, Rivero-Calle I, Vermont CL, Hagedoorn NN, Pokorn M, Pollard AJ, Schlapbach LJ, Tsolia M, Elefhteriou I, Yeung S, Zavadska D, Fink C, Voice M, Zenz W, Kohlmaier B, Agyeman PKA, Usuf E, Secka F, de Groot R, Levin M, van der Flier M, Emonts M; PERFORM consortium. van der Velden FJS, et al. Eur J Pediatr. 2023 Feb;182(2):543-554. doi: 10.1007/s00431-022-04642-1. Epub 2022 Oct 15. Eur J Pediatr. 2023. PMID: 36243780 Free PMC article.
Genomic investigations of unexplained acute hepatitis in children.
Morfopoulou S, Buddle S, Torres Montaguth OE, Atkinson L, Guerra-Assunção JA, Moradi Marjaneh M, Zennezini Chiozzi R, Storey N, Campos L, Hutchinson JC, Counsell JR, Pollara G, Roy S, Venturini C, Antinao Diaz JF, Siam A, Tappouni LJ, Asgarian Z, Ng J, Hanlon KS, Lennon A, McArdle A, Czap A, Rosenheim J, Andrade C, Anderson G, Lee JCD, Williams R, Williams CA, Tutill H, Bayzid N, Martin Bernal LM, Macpherson H, Montgomery KA, Moore C, Templeton K, Neill C, Holden M, Gunson R, Shepherd SJ, Shah P, Cooray S, Voice M, Steele M, Fink C, Whittaker TE, Santilli G, Gissen P, Kaufer BB, Reich J, Andreani J, Simmonds P, Alrabiah DK, Castellano S, Chikowore P, Odam M, Rampling T, Houlihan C, Hoschler K, Talts T, Celma C, Gonzalez S, Gallagher E, Simmons R, Watson C, Mandal S, Zambon M, Chand M, Hatcher J, De S, Baillie K, Semple MG; DIAMONDS Consortium; PERFORM Consortium; ISARIC 4C Investigators; Martin J, Ushiro-Lumb I, Noursadeghi M, Deheragoda M, Hadzic N, Grammatikopoulos T, Brown R, Kelgeri C, Thalassinos K, Waddington SN, Jacques TS, Thomson E, Levin M, Brown JR, Breuer J. Morfopoulou S, et al. Nature. 2023 May;617(7961):564-573. doi: 10.1038/s41586-023-06003-w. Epub 2023 Mar 30. Nature. 2023. PMID: 36996872 Free PMC article.
A multi-platform approach to identify a blood-based host protein signature for distinguishing between bacterial and viral infections in febrile children (PERFORM): a multi-cohort machine learning study.
Jackson HR, Zandstra J, Menikou S, Hamilton MS, McArdle AJ, Fischer R, Thorne AM, Huang H, Tanck MW, Jansen MH, De T, Agyeman PKA, Von Both U, Carrol ED, Emonts M, Eleftheriou I, Van der Flier M, Fink C, Gloerich J, De Groot R, Moll HA, Pokorn M, Pollard AJ, Schlapbach LJ, Tsolia MN, Usuf E, Wright VJ, Yeung S, Zavadska D, Zenz W, Coin LJM, Casals-Pascual C, Cunnington AJ, Martinon-Torres F, Herberg JA, de Jonge MI, Levin M, Kuijpers TW, Kaforou M; PERFORM consortium. Jackson HR, et al. Lancet Digit Health. 2023 Nov;5(11):e774-e785. doi: 10.1016/S2589-7500(23)00149-8. Lancet Digit Health. 2023. PMID: 37890901 Free article.
Intracranial Empyema in Children: A Single-center Retrospective Case Series.
Gilchrist JJ, Hoy T, Bijker EM, Lees EA, Wilkins L, Oliver M, Kelly DF, Paulus SC, Calisto A. Gilchrist JJ, et al. Pediatr Infect Dis J. 2023 Nov 1;42(11):e417-e420. doi: 10.1097/INF.0000000000004064. Epub 2023 Oct 11. Pediatr Infect Dis J. 2023. PMID: 37647356 Free PMC article.
Correction to: Febrile illness in high-risk children: a prospective, international observational study.
van der Velden FJS, de Vries G, Martin A, Lim E, von Both U, Kolberg L, Carrol ED, Khanijau A, Herberg JA, De T, Galassini R, Kuijpers TW, Martinón-Torres F, Rivero-Calle I, Vermont CL, Hagedoorn NN, Pokorn M, Pollard AJ, Schlapbach LJ, Tsolia M, Elefhteriou I, Yeung S, Zavadska D, Fink C, Voice M, Zenz W, Kohlmaier B, Agyeman PKA, Usuf E, Secka F, de Groot R, Levin M, van der Flier M, Emonts M; PERFORM consortium. van der Velden FJS, et al. Eur J Pediatr. 2023 Feb;182(2):555-556. doi: 10.1007/s00431-022-04788-y. Eur J Pediatr. 2023. PMID: 36689005 Free PMC article. No abstract available.
External validation of a multivariable prediction model for identification of pneumonia and other serious bacterial infections in febrile immunocompromised children.
Martin AJ, van der Velden FJS, von Both U, Tsolia MN, Zenz W, Sagmeister M, Vermont C, de Vries G, Kolberg L, Lim E, Pokorn M, Zavadska D, Martinón-Torres F, Rivero-Calle I, Hagedoorn NN, Usuf E, Schlapbach L, Kuijpers TW, Pollard AJ, Yeung S, Fink C, Voice M, Carrol E, Agyeman PKA, Khanijau A, Paulus S, De T, Herberg JA, Levin M, van der Flier M, de Groot R, Nijman R, Emonts M; PERFORM consortium. Martin AJ, et al. Arch Dis Child. 2023 Dec 14;109(1):58-66. doi: 10.1136/archdischild-2023-325869. Arch Dis Child. 2023. PMID: 37640431
Emergency medical services utilisation among febrile children attending emergency departments across Europe: an observational multicentre study.
Tan CD, Vermont CL, Zachariasse JM, von Both U, Eleftheriou I, Emonts M, van der Flier M, Herberg J, Kohlmaier B, Levin M, Lim E, Maconochie IK, Martinon-Torres F, Nijman RG, Pokorn M, Rivero-Calle I, Tsolia M, Zenz W, Zavadska D, Moll HA, Carrol ED; PERFORM consortium (Personalised Risk assessment in febrile children to optimize Real-life Management across the European Union). Tan CD, et al. Eur J Pediatr. 2023 Sep;182(9):3939-3947. doi: 10.1007/s00431-023-05056-3. Epub 2023 Jun 24. Eur J Pediatr. 2023. PMID: 37354239 Free PMC article.
Raising AWaRe-ness of Antimicrobial Stewardship Challenges in Pediatric Emergency Care: Results from the PERFORM Study Assessing Consistency and Appropriateness of Antibiotic Prescribing Across Europe.
Kolberg L, Khanijau A, van der Velden FJS, Herberg J, De T, Galassini R, Cunnington AJ, Wright VJ, Shah P, Kaforou M, Wilson C, Kuijpers T, Martinón-Torres F, Rivero-Calle I, Moll H, Vermont C, Pokorn M, Kolnik M, Pollard AJ, Agyeman PKA, Schlapbach LJ, Tsolia MN, Yeung S, Zavadska D, Zenz W, Schweintzger NA, van der Flier M, de Groot R, Usuf E, Voice M, Calvo-Bado L, Mallet F, Fidler K, Levin M, Carrol ED, Emonts M, von Both U; PERFORM Consortium. Kolberg L, et al. Clin Infect Dis. 2024 Mar 20;78(3):526-534. doi: 10.1093/cid/ciad615. Clin Infect Dis. 2024. PMID: 37820031 Free PMC article.
5,162 results