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The genetic and biochemical basis of trimethylaminuria in an Irish cohort.
Doyle S, O'Byrne JJ, Nesbitt M, Murphy DN, Abidin Z, Byrne N, Pastores G, Kirk R, Treacy EP. Doyle S, et al. Among authors: murphy dn. JIMD Rep. 2019 Mar 25;47(1):35-40. doi: 10.1002/jmd2.12028. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240165 Free PMC article.
Designing rare disease care pathways in the Republic of Ireland: a co-operative model.
Ward AJ, Murphy D, Marron R, McGrath V, Bolz-Johnson M, Cullen W, Daly A, Hardiman O, Lawlor A, Lynch SA, MacLachlan M, McBrien J, Ni Bhriain S, O'Byrne JJ, O'Connell SM, Turner J, Treacy EP. Ward AJ, et al. Orphanet J Rare Dis. 2022 Apr 11;17(1):162. doi: 10.1186/s13023-022-02309-6. Orphanet J Rare Dis. 2022. PMID: 35410222 Free PMC article.
The role of primary care in management of rare diseases in Ireland.
Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O'Sullivan G, Mason M, Broderick F, Burke MC, Casey S, Doyle M, Gibney D, Mason F, Molony D, Ormond D, O' Sé C, O'Shea C, Treacy EP. Byrne N, et al. Among authors: murphy dn. Ir J Med Sci. 2020 Aug;189(3):771-776. doi: 10.1007/s11845-019-02168-4. Epub 2020 Jan 13. Ir J Med Sci. 2020. PMID: 31933130 Free PMC article.
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.
Morales J, Pujar S, Loveland JE, Astashyn A, Bennett R, Berry A, Cox E, Davidson C, Ermolaeva O, Farrell CM, Fatima R, Gil L, Goldfarb T, Gonzalez JM, Haddad D, Hardy M, Hunt T, Jackson J, Joardar VS, Kay M, Kodali VK, McGarvey KM, McMahon A, Mudge JM, Murphy DN, Murphy MR, Rajput B, Rangwala SH, Riddick LD, Thibaud-Nissen F, Threadgold G, Vatsan AR, Wallin C, Webb D, Flicek P, Birney E, Pruitt KD, Frankish A, Cunningham F, Murphy TD. Morales J, et al. Among authors: murphy dn. Nature. 2022 Apr;604(7905):310-315. doi: 10.1038/s41586-022-04558-8. Epub 2022 Apr 6. Nature. 2022. PMID: 35388217 Free PMC article.
Clonal polymorphism and high heterozygosity in the celibate genome of the Amazon molly.
Warren WC, García-Pérez R, Xu S, Lampert KP, Chalopin D, Stöck M, Loewe L, Lu Y, Kuderna L, Minx P, Montague MJ, Tomlinson C, Hillier LW, Murphy DN, Wang J, Wang Z, Garcia CM, Thomas GCW, Volff JN, Farias F, Aken B, Walter RB, Pruitt KD, Marques-Bonet T, Hahn MW, Kneitz S, Lynch M, Schartl M. Warren WC, et al. Among authors: murphy dn. Nat Ecol Evol. 2018 Apr;2(4):669-679. doi: 10.1038/s41559-018-0473-y. Epub 2018 Feb 12. Nat Ecol Evol. 2018. PMID: 29434351 Free PMC article.
Ensembl 2018.
Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, Billis K, Cummins C, Gall A, Girón CG, Gil L, Gordon L, Haggerty L, Haskell E, Hourlier T, Izuogu OG, Janacek SH, Juettemann T, To JK, Laird MR, Lavidas I, Liu Z, Loveland JE, Maurel T, McLaren W, Moore B, Mudge J, Murphy DN, Newman V, Nuhn M, Ogeh D, Ong CK, Parker A, Patricio M, Riat HS, Schuilenburg H, Sheppard D, Sparrow H, Taylor K, Thormann A, Vullo A, Walts B, Zadissa A, Frankish A, Hunt SE, Kostadima M, Langridge N, Martin FJ, Muffato M, Perry E, Ruffier M, Staines DM, Trevanion SJ, Aken BL, Cunningham F, Yates A, Flicek P. Zerbino DR, et al. Among authors: murphy dn. Nucleic Acids Res. 2018 Jan 4;46(D1):D754-D761. doi: 10.1093/nar/gkx1098. Nucleic Acids Res. 2018. PMID: 29155950 Free PMC article.
22 results