McGettigan P - Search Results

1

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA. Casey JP, et al. Among authors: mcgettigan p. Hum Mol Genet. 2016 May 1;25(9):1824-35. doi: 10.1093/hmg/ddw054. Epub 2016 Feb 21. Hum Mol Genet. 2016. PMID: 26908619

2

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S. Casey J, et al. Among authors: mcgettigan p. Hum Mutat. 2011 Dec;32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29. Hum Mutat. 2011. PMID: 21901792 Free PMC article.

3

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair.

Casey JP, Nobbs M, McGettigan P, Lynch S, Ennis S. Casey JP, et al. Among authors: mcgettigan p. J Med Genet. 2012 Apr;49(4):242-5. doi: 10.1136/jmedgenet-2012-100803. J Med Genet. 2012. PMID: 22499342

4

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S. Casey JP, et al. Among authors: mcgettigan p. Mol Genet Metab. 2012 Jul;106(3):351-8. doi: 10.1016/j.ymgme.2012.04.017. Epub 2012 Apr 26. Mol Genet Metab. 2012. PMID: 22607940

5

A novel locus for episodic ataxia:UBR4 the likely candidate.

Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S. Conroy J, et al. Among authors: mcgettigan p. Eur J Hum Genet. 2014 Apr;22(4):505-10. doi: 10.1038/ejhg.2013.173. Epub 2013 Aug 28. Eur J Hum Genet. 2014. PMID: 23982692 Free PMC article.

6

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

Casey J, McGettigan P, Brosnahan D, Curtis E, Treacy E, Ennis S, Lynch SA. Casey J, et al. Among authors: mcgettigan p. Eur J Med Genet. 2014 Feb;57(2-3):55-9. doi: 10.1016/j.ejmg.2014.01.007. Epub 2014 Feb 3. Eur J Med Genet. 2014. PMID: 24503146

7

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN, Ennis S, Slattery D, Lynch SA. Casey JP, et al. Among authors: mcgettigan pa. Eur J Hum Genet. 2015 Feb;23(2):210-7. doi: 10.1038/ejhg.2014.79. Epub 2014 May 14. Eur J Hum Genet. 2015. PMID: 24824133 Free PMC article.

8

Towards the identification of a genetic basis for Landau-Kleffner syndrome.

Conroy J, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD. Conroy J, et al. Epilepsia. 2014 Jun;55(6):858-65. doi: 10.1111/epi.12645. Epub 2014 May 14. Epilepsia. 2014. PMID: 24828792 Free article.

9

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

Allen NM, Conroy J, Deonna T, McCreary D, McGettigan P, Madigan C, Carter I, Ennis S, Lynch SA, Shahwan A, King MD. Allen NM, et al. Among authors: mcgettigan p. Epilepsy Behav Case Rep. 2016 Apr 23;6:42-8. doi: 10.1016/j.ebcr.2016.04.003. eCollection 2016. Epilepsy Behav Case Rep. 2016. PMID: 27504264 Free PMC article.

10

Genetic contributions to precocity traits in racing Thoroughbreds.

Farries G, McGettigan PA, Gough KF, McGivney BA, MacHugh DE, Katz LM, Hill EW. Farries G, et al. Among authors: mcgettigan pa. Anim Genet. 2018 Jun;49(3):193-204. doi: 10.1111/age.12622. Epub 2017 Dec 12. Anim Genet. 2018. PMID: 29230835

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