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177 results

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Page 1
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: baynam g. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: baynam g. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
Moynihan D, Monaco S, Ting TW, Narasimhalu K, Hsieh J, Kam S, Lim JY, Lim WK, Davila S, Bylstra Y, Balakrishnan ID, Heng M, Chia E, Yeo KK, Goh BK, Gupta R, Tan T, Baynam G, Jamuar SS. Moynihan D, et al. Among authors: baynam g. Sci Rep. 2024 May 2;14(1):10084. doi: 10.1038/s41598-024-60776-2. Sci Rep. 2024. PMID: 38698204 Free PMC article. No abstract available.
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
Moynihan D, Monaco S, Ting TW, Narasimhalu K, Hsieh J, Kam S, Lim JY, Lim WK, Davila S, Bylstra Y, Balakrishnan ID, Heng M, Chia E, Yeo KK, Goh BK, Gupta R, Tan T, Baynam G, Jamuar SS. Moynihan D, et al. Among authors: baynam g. Sci Rep. 2024 Mar 1;14(1):5056. doi: 10.1038/s41598-024-55424-8. Sci Rep. 2024. PMID: 38424111 Free PMC article.
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples.
Baynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Caron N, Chongo M, Thomas Y, Letinturier MCV, Vorster BC. Baynam G, et al. Nat Genet. 2024 Feb;56(2):189-193. doi: 10.1038/s41588-023-01642-1. Nat Genet. 2024. PMID: 38332370 No abstract available.
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
Bhattacharjee R, Jolly LA, Corbett MA, Wee IC, Rao SR, Gardner AE, Ritchie T, van Hugte EJH, Ciptasari U, Piltz S, Noll JE, Nazri N, van Eyk CL, White M, Fornarino D, Poulton C, Baynam G, Collins-Praino LE, Snel MF, Nadif Kasri N, Hemsley KM, Thomas PQ, Kumar R, Gecz J. Bhattacharjee R, et al. Among authors: baynam g. Nat Commun. 2024 Feb 8;15(1):1210. doi: 10.1038/s41467-024-45121-5. Nat Commun. 2024. PMID: 38331934 Free PMC article.
An evaluation of GPT models for phenotype concept recognition.
Groza T, Caufield H, Gration D, Baynam G, Haendel MA, Robinson PN, Mungall CJ, Reese JT. Groza T, et al. Among authors: baynam g. BMC Med Inform Decis Mak. 2024 Jan 31;24(1):30. doi: 10.1186/s12911-024-02439-w. BMC Med Inform Decis Mak. 2024. PMID: 38297371 Free PMC article.
Indigenous Australian genomes show deep structure and rich novel variation.
Silcocks M, Farlow A, Hermes A, Tsambos G, Patel HR, Huebner S, Baynam G, Jenkins MR, Vukcevic D, Easteal S, Leslie S; National Centre for Indigenous Genomics. Silcocks M, et al. Among authors: baynam g. Nature. 2023 Dec;624(7992):593-601. doi: 10.1038/s41586-023-06831-w. Epub 2023 Dec 13. Nature. 2023. PMID: 38093005 Free PMC article.
The landscape of genomic structural variation in Indigenous Australians.
Reis ALM, Rapadas M, Hammond JM, Gamaarachchi H, Stevanovski I, Ayuputeri Kumaheri M, Chintalaphani SR, Dissanayake DSB, Siggs OM, Hewitt AW, Llamas B, Brown A, Baynam G, Mann GJ, McMorran BJ, Easteal S, Hermes A, Jenkins MR; National Centre for Indigenous Genomics; Patel HR, Deveson IW. Reis ALM, et al. Among authors: baynam g. Nature. 2023 Dec;624(7992):602-610. doi: 10.1038/s41586-023-06842-7. Epub 2023 Dec 13. Nature. 2023. PMID: 38093003 Free PMC article.
177 results