O'Byrne JJ - Search Results

1

Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Ward AJ, Lambert DM, Butterly D, O'Byrne JJ, McGrath V, Lynch SA. Ward AJ, et al. Among authors: o byrne jj. J Community Genet. 2023 Dec;14(6):583-592. doi: 10.1007/s12687-023-00664-w. Epub 2023 Aug 26. J Community Genet. 2023. PMID: 37632685 Free PMC article.

2

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

O'Byrne JJ, Lynch SA, Treacy EP, King MD, Betts DR, Mayne PD, Sharif F. O'Byrne JJ, et al. Ir J Med Sci. 2016 Feb;185(1):241-8. doi: 10.1007/s11845-015-1284-7. Epub 2015 Apr 21. Ir J Med Sci. 2016. PMID: 25894277 Review.

3

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

O'Byrne JJ, Ryan H, Murray DJ, Regan R, Betts DR, Murphy N, Casey JP, Lynch SA. O'Byrne JJ, et al. Am J Med Genet A. 2017 Jan;173(1):274-279. doi: 10.1002/ajmg.a.38001. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774767

4

Incidence of Fragile X syndrome in Ireland.

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA. O'Byrne JJ, et al. Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3. Am J Med Genet A. 2017. PMID: 28157260

5

The Role of the European Society of Human Genetics in Delivering Genomic Education.

Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG. Tobias ES, et al. Front Genet. 2021 Sep 3;12:693952. doi: 10.3389/fgene.2021.693952. eCollection 2021. Front Genet. 2021. PMID: 34539735 Free PMC article.

6

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. Among authors: o byrne jj. 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.

7

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. 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.

8

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J, Stephenson KAJ, Dockery A, Turner J, O'Byrne JJ, Fitzsimon S, Farrar GJ, Flitcroft DI, Keegan DJ. Zhu J, et al. Among authors: o byrne jj. Genes (Basel). 2022 Mar 29;13(4):615. doi: 10.3390/genes13040615. Genes (Basel). 2022. PMID: 35456422 Free PMC article.

9

Variant reclassification and clinical implications.

Walsh N, Cooper A, Dockery A, O'Byrne JJ. Walsh N, et al. Among authors: o byrne jj. J Med Genet. 2024 Feb 21;61(3):207-211. doi: 10.1136/jmg-2023-109488. J Med Genet. 2024. PMID: 38296635 Free article. Review.

10

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

O'Byrne JJ, Laffan E, Murray DJ, Reardon W. O'Byrne JJ, et al. Am J Med Genet A. 2017 May;173(5):1374-1377. doi: 10.1002/ajmg.a.38128. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28317252

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