Lynch SA - Search Results

1

Epidemiology of chromosomal trisomies in the East of Ireland.

McDonnell R, Monteith C, Kennelly M, Martin A, Betts D, Delany V, Lynch SA, Coulter-Smith S, Sheehan S, Mahony R. McDonnell R, et al. Among authors: lynch sa. J Public Health (Oxf). 2017 Dec 1;39(4):e145-e151. doi: 10.1093/pubmed/fdw087. J Public Health (Oxf). 2017. PMID: 27591300

2

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

White M, Conroy J, Bullman H, Lever M, Daly E, Betts DR, Cody D, Crolla JA, Lynch SA. White M, et al. Among authors: lynch sa. Case Rep Genet. 2013;2013:764152. doi: 10.1155/2013/764152. Epub 2013 Jan 14. Case Rep Genet. 2013. PMID: 23424688 Free PMC article.

3

Vocal cord paralysis in association with 9q34 duplication.

Gadancheva VG, Casey JP, Russell JD, McDaid J, Betts DR, Lynch SA. Gadancheva VG, et al. Among authors: lynch sa. Clin Dysmorphol. 2014 Jul;23(3):105-108. doi: 10.1097/MCD.0000000000000040. Clin Dysmorphol. 2014. PMID: 24859494 No abstract available.

4

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

Seoighe DM, Gadancheva V, Regan R, McDaid J, Brenner C, Ennis S, Betts DR, Eadie PA, Lynch SA. Seoighe DM, et al. Among authors: lynch sa. Am J Med Genet A. 2014 Nov;164A(11):2958-60. doi: 10.1002/ajmg.a.36712. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25124102 No abstract available.

5

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. Among authors: lynch sa. 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.

6

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Casey JP, Goggin P, McDaid J, White M, Ennis S, Betts DR, Lucas JS, Elnazir B, Lynch SA. Casey JP, et al. Among authors: lynch sa. BMC Med Genet. 2015 Jun 30;16:45. doi: 10.1186/s12881-015-0192-z. BMC Med Genet. 2015. PMID: 26123568 Free PMC article.

7

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. Among authors: lynch sa. 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

8

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. Among authors: lynch sa. 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

9

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Among authors: lynch sa. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152

10

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.

Sasaki E, Kostocenko M, Lang N, Clark T, Rogers M, Muldowney R, Walsh O, O'Grady L, Edge G, Ward A, Linnane B, Borovickova I, Barton DE, Lynch SA. Sasaki E, et al. Among authors: lynch sa. Eur J Hum Genet. 2020 Dec;28(12):1669-1674. doi: 10.1038/s41431-020-0661-5. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483343 Free PMC article.

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