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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, John T, Mullen S, White SM, Brown NJ, McGillivray G, Chen J, Richmond C, Hughes A, Krzesinski E, Fennell A, Chambers B, Santoreneos R, Le Fevre A, Hildebrand MS, Bahlo M, Christodoulou J, Delatycki M, Berkovic SF. Wallis M, et al. Among authors: munro j. Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. Orphanet J Rare Dis. 2024. PMID: 39095811 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: munro je. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
High resolution imaging and five-year tuberculosis contact outcomes.
Esmail H, Coussens AK, Thienemann F, Sossen B, Mukasa SL, Warwick J, Goliath RT, Davies NO, Douglass E, Jackson A, Lakay F, Streicher E, Munro JE, Barrios MH, Heinsohn T, Macpherson L, Sheerin D, Aziz S, Serole K, Daroowala R, Taliep A, Ahlers P, Malherbe ST, Bowden R, Warren R, Walzl G, Via LE, Bahlo M, Jacobson KR, Horsburgh CR Jr, Salgame P, Alland D, Barry CE 3rd, Flynn JL, Ellner JJ, Wilkinson RJ. Esmail H, et al. Among authors: munro je. medRxiv [Preprint]. 2023 Jul 3:2023.07.03.23292111. doi: 10.1101/2023.07.03.23292111. medRxiv. 2023. PMID: 37461515 Free PMC article. Preprint.
Breadth and visibility of children's lower limb chronic musculoskeletal pain: a scoping review.
Ilhan E, Davies L, Pacey V, Smith M, Munro J, Munns C, Sturgiss E, Williams N, Tofts L, Locke V, Haines T, Brennan SE, Maloney S, Sarkies MN, Clavisi O, Miles D, Nissen L, Williams C. Ilhan E, et al. Among authors: munro j. BMJ Open. 2024 Oct 29;14(10):e082801. doi: 10.1136/bmjopen-2023-082801. BMJ Open. 2024. PMID: 39477277 Free PMC article. Review.
Sequential and parallel testing for microbiological confirmation of tuberculosis disease in children in five low-income and middle-income countries: a secondary analysis of the RaPaed-TB study.
Olbrich L, Franckling-Smith Z, Larsson L, Sabi I, Ntinginya NE, Khosa C, Banze D, Nliwasa M, Corbett EL, Semphere R, Verghese VP, Michael JS, Ninan MM, Saathoff E, McHugh TD, Razid A, Graham SM, Song R, Nabeta P, Trollip A, Nicol MP, Hoelscher M, Geldmacher C, Heinrich N, Zar HJ; RaPaed-AIDA-TB consortium. Olbrich L, et al. Lancet Infect Dis. 2024 Sep 20:S1473-3099(24)00494-8. doi: 10.1016/S1473-3099(24)00494-8. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39312914 Free article.
The asymmetric opening of HIV-1 Env by a potent CD4 mimetic enables anti-coreceptor binding site antibodies to mediate ADCC.
Richard J, Grunst MW, Niu L, Díaz-Salinas MA, Tolbert WD, Marchitto L, Zhou F, Bourassa C, Yang D, Chiu TJ, Chen HC, Benlarbi M; Guillaume-Beaudoin-Buissières; Gottumukkala S, Li W, Dionne K, Bélanger É, Chatterjee D, Medjahed H, Hendrickson WA, Sodroski J, Lang ZC, Morton AJ, Huang RK, Matthies D, Smith AB 3rd, Mothes W, Munro JB, Pazgier M, Finzi A. Richard J, et al. Among authors: munro jb. bioRxiv [Preprint]. 2024 Aug 27:2024.08.27.609961. doi: 10.1101/2024.08.27.609961. bioRxiv. 2024. PMID: 39253431 Free PMC article. Preprint.
769 results