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Items: 1 to 50 of 265

1.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE.

Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7.

2.

Review article: the genetics of the human leucocyte antigen region in inflammatory bowel disease.

Ashton JJ, Latham K, Beattie RM, Ennis S.

Aliment Pharmacol Ther. 2019 Sep 13. doi: 10.1111/apt.15485. [Epub ahead of print] Review.

PMID:
31518029
3.

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C, Parker H, Oscier D, Ennis S, Gibson J, Strefford JC.

Sci Rep. 2019 Jul 18;9(1):10444. doi: 10.1038/s41598-019-46906-1.

4.

HPV vaccination coverage and course completion rates for Indigenous Australian adolescents, 2015.

Brotherton JM, Winch KL, Chappell G, Banks C, Meijer D, Ennis S, Peterson K, Webby R, Whop LJ.

Med J Aust. 2019 Jul;211(1):31-36. doi: 10.5694/mja2.50221. Epub 2019 Jun 9.

PMID:
31179546
5.

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.

Forman EB, Gorman KM, Ennis S, King MD.

J Child Neurol. 2019 Sep;34(10):621. doi: 10.1177/0883073819846805. Epub 2019 May 19.

PMID:
31106652
6.

GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Mossotto E, Ashton JJ, O'Gorman L, Pengelly RJ, Beattie RM, MacArthur BD, Ennis S.

BMC Bioinformatics. 2019 May 16;20(1):254. doi: 10.1186/s12859-019-2877-3.

7.

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions.

Vergara-Lope A, Ennis S, Vorechovsky I, Pengelly RJ, Collins A.

Eur J Hum Genet. 2019 Sep;27(9):1436-1444. doi: 10.1038/s41431-019-0419-0. Epub 2019 May 3.

PMID:
31053778
8.

AMD Risk Alleles Are Not Implicated in Age-Related Macular Degeneration in Patients with Liver Transplantation.

Khandhadia S, Gibson J, Ennis S, Cree AJ, Lotery AJ.

Ophthalmol Retina. 2018 Aug;2(8):872-874. doi: 10.1016/j.oret.2018.02.014. Epub 2018 Apr 19. No abstract available.

PMID:
31047541
9.

Personalising medicine in inflammatory bowel disease-current and future perspectives.

Ashton JJ, Mossotto E, Ennis S, Beattie RM.

Transl Pediatr. 2019 Jan;8(1):56-69. doi: 10.21037/tp.2018.12.03. Review.

10.

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

O'Gorman L, Cree AJ, Ward D, Griffiths HL, Sood R, Denniston AK, Self JE, Ennis S, Lotery AJ, Gibson J.

Sci Rep. 2019 Feb 28;9(1):3100. doi: 10.1038/s41598-019-38760-y.

11.

Increased prevalence of anti-TNF therapy in paediatric inflammatory bowel disease is associated with a decline in surgical resections during childhood.

Ashton JJ, Borca F, Mossotto E, Coelho T, Batra A, Afzal NA, Phan HTT, Stanton M, Ennis S, Beattie RM.

Aliment Pharmacol Ther. 2019 Feb;49(4):398-407. doi: 10.1111/apt.15094. Epub 2019 Jan 9.

PMID:
30628109
12.

Analysis and Hierarchical Clustering of Blood Results Before Diagnosis in Pediatric Inflammatory Bowel Disease.

Ashton JJ, Borca F, Mossotto E, Phan HTT, Ennis S, Beattie RM.

Inflamm Bowel Dis. 2018 Dec 17. doi: 10.1093/ibd/izy369. [Epub ahead of print]

PMID:
30561629
13.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

14.

Clinical efficacy of eplerenone versus placebo for central serous chorioretinopathy: study protocol for the VICI randomised controlled trial.

Willcox A, Culliford L, Ellis L, Rogers CA, Cree A, Chakravarthy U, Ennis S, Behar-Cohen F, Reeves BC, Sivaprasad S, Lotery A.

Eye (Lond). 2019 Feb;33(2):295-303. doi: 10.1038/s41433-018-0212-2. Epub 2018 Sep 7.

15.

Early-onset paediatric inflammatory bowel disease.

Ashton JJ, Ennis S, Beattie RM.

Lancet Child Adolesc Health. 2017 Oct;1(2):147-158. doi: 10.1016/S2352-4642(17)30017-2. Epub 2017 Aug 7. Review.

PMID:
30169204
16.

Sequencing era methods for identifying signatures of selection in the genome.

Horscroft C, Ennis S, Pengelly RJ, Sluckin TJ, Collins A.

Brief Bioinform. 2018 Jul 24. doi: 10.1093/bib/bby064. [Epub ahead of print]

PMID:
30053138
17.

Feasibility and effects of intra-dialytic low-frequency electrical muscle stimulation and cycle training: A pilot randomized controlled trial.

McGregor G, Ennis S, Powell R, Hamborg T, Raymond NT, Owen W, Aldridge N, Evans G, Goodby J, Hewins S, Banerjee P, Krishnan NS, Ting SMS, Zehnder D.

PLoS One. 2018 Jul 11;13(7):e0200354. doi: 10.1371/journal.pone.0200354. eCollection 2018.

18.

Low frequency electrical muscle stimulation and endothelial function in advanced heart failure patients.

Ennis S, McGregor G, Shave R, McDonnell B, Thompson A, Banerjee P, Jones H.

ESC Heart Fail. 2018 Aug;5(4):727-731. doi: 10.1002/ehf2.12293. Epub 2018 Jul 3.

19.

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei.

Pengelly RJ, Rowaiye B, Pickard K, Moran B, Dayal S, Tapper W, Mirnezami A, Cecil T, Mohamed F, Carr N, Ennis S.

J Mol Diagn. 2018 Sep;20(5):635-642. doi: 10.1016/j.jmoldx.2018.05.002. Epub 2018 Jun 22.

PMID:
29936255
20.

Premenopausal women with recurrent urinary tract infections have lower quality of life.

Ennis SS, Guo H, Raman L, Tambyah PA, Chen SL, Tiong HY.

Int J Urol. 2018 Jul;25(7):684-689. doi: 10.1111/iju.13698. Epub 2018 May 22.

21.

Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland.

Gilbert E, O'Reilly S, Merrigan M, McGettigan D, Molloy AM, Brody LC, Bodmer W, Hutnik K, Ennis S, Lawson DJ, Wilson JF, Cavalleri GL.

Sci Rep. 2018 May 3;8(1):7208. doi: 10.1038/s41598-018-24846-6.

22.

Personalized Cardio-Metabolic Responses to an Anti-Inflammatory Nutrition Intervention in Obese Adolescents: A Randomized Controlled Crossover Trial.

McMorrow AM, Connaughton RM, Magalhães TR, McGillicuddy FC, Hughes MF, Cheishvili D, Morine MJ, Ennis S, Healy ML, Roche EF, Tremblay RE, Szyf M, Lithander FE, Roche HM.

Mol Nutr Food Res. 2018 May;62(10):e1701008. doi: 10.1002/mnfr.201701008.

23.

Early initiation of post-sternotomy cardiac rehabilitation exercise training (SCAR): study protocol for a randomised controlled trial and economic evaluation.

Ennis S, Lobley G, Worrall S, Powell R, Kimani PK, Khan AJ, Banerjee P, Barker T, McGregor G.

BMJ Open. 2018 Mar 23;8(3):e019748. doi: 10.1136/bmjopen-2017-019748.

24.

Is exercise-based cardiac rehabilitation effective? A systematic review and meta-analysis to re-examine the evidence.

Powell R, McGregor G, Ennis S, Kimani PK, Underwood M.

BMJ Open. 2018 Mar 14;8(3):e019656. doi: 10.1136/bmjopen-2017-019656. Review. Erratum in: BMJ Open. 2018 May 14;8(5):e019656corr1.

25.

Catalogue of inherited disorders found among the Irish Traveller population.

Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J.

J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22.

PMID:
29358271
26.

Utility of Pulse Oximetry to Detect Aspiration: An Evidence-Based Systematic Review.

Britton D, Roeske A, Ennis SK, Benditt JO, Quinn C, Graville D.

Dysphagia. 2018 Jun;33(3):282-292. doi: 10.1007/s00455-017-9868-1. Epub 2017 Dec 14.

PMID:
29243086
27.

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.

Mercer CL, Andreoletti G, Carroll A, Salmon AP, Temple IK, Ennis S.

Circ Cardiovasc Genet. 2017 Dec;10(6). pii: e001683. doi: 10.1161/CIRCGENETICS.116.001683.

PMID:
29237676
28.

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Ramakrishnan KA, Rae W, Barcenas-Morales G, Gao Y, Pengelly RJ, Patel SV, Kumararatne DS, Ennis S, Döffinger R, Faust SN, Williams AP.

J Allergy Clin Immunol. 2018 Apr;141(4):1479-1482.e6. doi: 10.1016/j.jaci.2017.11.014. Epub 2017 Dec 7. No abstract available.

PMID:
29225085
29.

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland.

Gilbert E, O'Reilly S, Merrigan M, McGettigan D, Molloy AM, Brody LC, Bodmer W, Hutnik K, Ennis S, Lawson DJ, Wilson JF, Cavalleri GL.

Sci Rep. 2017 Dec 8;7(1):17199. doi: 10.1038/s41598-017-17124-4. Erratum in: Sci Rep. 2018 May 3;8(1):7208.

30.

Eplerenone Reduces Atrial Fibrillation Burden Without Preventing Atrial Electrical Remodeling.

Takemoto Y, Ramirez RJ, Kaur K, Salvador-Montañés O, Ponce-Balbuena D, Ramos-Mondragón R, Ennis SR, Guerrero-Serna G, Berenfeld O, Jalife J.

J Am Coll Cardiol. 2017 Dec 12;70(23):2893-2905. doi: 10.1016/j.jacc.2017.10.014.

31.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A.

Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14.

PMID:
29193635
32.

Structural basis for the antiarrhythmic blockade of a potassium channel with a small molecule.

Takemoto Y, Slough DP, Meinke G, Katnik C, Graziano ZA, Chidipi B, Reiser M, Alhadidy MM, Ramirez R, Salvador-Montañés O, Ennis S, Guerrero-Serna G, Haburcak M, Diehl C, Cuevas J, Jalife J, Bohm A, Lin YS, Noujaim SF.

FASEB J. 2018 Apr;32(4):1778-1793. doi: 10.1096/fj.201700349R. Epub 2018 Jan 5.

33.

Barriers to effective, safe communication and workflow between nurses and non-consultant hospital doctors during out-of-hours.

Brady AM, Byrne G, Quirke MB, Lynch A, Ennis S, Bhangu J, Prendergast M.

Int J Qual Health Care. 2017 Nov 1;29(7):929-934. doi: 10.1093/intqhc/mzx133.

PMID:
29087489
34.

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

Pengelly RJ, Alom T, Zhang Z, Hunt D, Ennis S, Collins A.

Sci Rep. 2017 Oct 18;7(1):13509. doi: 10.1038/s41598-017-13841-y.

35.

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

Rae W, Ward D, Mattocks CJ, Gao Y, Pengelly RJ, Patel SV, Ennis S, Faust SN, Williams AP.

Clin Transl Immunology. 2017 Sep 15;6(9):e155. doi: 10.1038/cti.2017.38. eCollection 2017 Sep.

36.

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

Forman EB, Gorman KM, Conroy J, Arthur N, Grant C, Ennis S, Allen NM, Lynch SA, King MD.

Arch Dis Child. 2018 Mar;103(3):304. doi: 10.1136/archdischild-2017-313240. Epub 2017 Sep 22. No abstract available.

PMID:
28939639
37.

Endoscopic and Histological Assessment of Paediatric Inflammatory Bowel Disease Over a 3-Year Follow-up Period.

Ashton JJ, Bonduelle Q, Mossotto E, Coelho T, Batra A, Afzal NA, Vadgama B, Ennis S, Beattie RM.

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):402-409. doi: 10.1097/MPG.0000000000001729.

PMID:
28922257
38.

Subclonal Evolution of Cancer-Related Gene Mutations in p53 Immunopositive Patches in Human Skin.

Albibas AA, Rose-Zerilli MJJ, Lai C, Pengelly RJ, Lockett GA, Theaker J, Ennis S, Holloway JW, Healy E.

J Invest Dermatol. 2018 Jan;138(1):189-198. doi: 10.1016/j.jid.2017.07.844. Epub 2017 Aug 24.

39.

Randomised feasibility trial into the effects of low-frequency electrical muscle stimulation in advanced heart failure patients.

Ennis S, McGregor G, Hamborg T, Jones H, Shave R, Singh SJ, Banerjee P.

BMJ Open. 2017 Aug 11;7(8):e016148. doi: 10.1136/bmjopen-2017-016148.

40.

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Gorman KM, Forman E, Conroy J, Allen NM, Shahwan A, Lynch SA, Ennis S, King MD.

Epilepsia. 2017 Jul;58(7):1301-1302. doi: 10.1111/epi.13794. No abstract available.

41.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE.

Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5.

42.

16S sequencing and functional analysis of the fecal microbiome during treatment of newly diagnosed pediatric inflammatory bowel disease.

Ashton JJ, Colquhoun CM, Cleary DW, Coelho T, Haggarty R, Mulder I, Batra A, Afzal NA, Beattie RM, Scott KP, Ennis S.

Medicine (Baltimore). 2017 Jun;96(26):e7347. doi: 10.1097/MD.0000000000007347.

43.

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.

Casey JP, Hirouchi T, Hisatsune C, Lynch B, Murphy R, Dunne AM, Miyamoto A, Ennis S, van der Spek N, O'Hici B, Mikoshiba K, Lynch SA.

J Neurol. 2017 Jul;264(7):1444-1453. doi: 10.1007/s00415-017-8545-5. Epub 2017 Jun 15.

PMID:
28620721
44.

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

Seaby EG, Gilbert RD, Andreoletti G, Pengelly RJ, Mercer C, Hunt D, Ennis S.

Front Pediatr. 2017 May 22;5:113. doi: 10.3389/fped.2017.00113. eCollection 2017.

45.

Classification of Paediatric Inflammatory Bowel Disease using Machine Learning.

Mossotto E, Ashton JJ, Coelho T, Beattie RM, MacArthur BD, Ennis S.

Sci Rep. 2017 May 25;7(1):2427. doi: 10.1038/s41598-017-02606-2.

46.

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Andreoletti G, Shakhnovich V, Christenson K, Coelho T, Haggarty R, Afzal NA, Batra A, Petersen BS, Mort M, Beattie RM, Ennis S.

Sci Rep. 2017 Apr 19;7:46454. doi: 10.1038/srep46454.

47.

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC.

Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22.

48.

Genomic insights into the population structure and history of the Irish Travellers.

Gilbert E, Carmi S, Ennis S, Wilson JF, Cavalleri GL.

Sci Rep. 2017 Feb 9;7:42187. doi: 10.1038/srep42187.

49.

De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

Takahashi S, Andreoletti G, Chen R, Munehira Y, Batra A, Afzal NA, Beattie RM, Bernstein JA, Ennis S, Snyder M.

Genome Med. 2017 Jan 26;9(1):8. doi: 10.1186/s13073-016-0394-9.

50.

America's Churning Races: Race and Ethnicity Response Changes Between Census 2000 and the 2010 Census.

Liebler CA, Porter SR, Fernandez LE, Noon JM, Ennis SR.

Demography. 2017 Feb;54(1):259-284. doi: 10.1007/s13524-016-0544-0.

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