N.C.M.G. Publications

Medical and Scientific staff at the National Centre for Medical Genetics are actively involved in research in several areas, as detailed in the publications listed below.

2007 publications

  1. A Genome-wide Scan for Genes Involved in Primary Vesicoureteral Reflux in 133 Families. Kelly H, Molony C, Pirker M, Yoneda A, Green AJ, Puri P and Barton DE J Med Genet (ePub): 27 July 2007
  2. Emerging technologies for point-of-care genetic testing. Dobson MG, Galvin P and Barton DE Expert Review of Molecular Diagnostics (ePub): 7 (4): 359-370, 2007
  3. Mutations in the gene encoding Filamin A as a cause for familial cardiac valvular dystrophy. Kyndt F, Gueffet J-P, Probst V, Jaafer P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu J-N, Le Marec H and Schott J-J Circulation 115 (1): 40-49, 2007
  4. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB and Ozelius LJ Brain, 4 February 2007, ePub
  5. Adults with Down’s syndrome: the prevalence of complications and health care in the community. Henderson A, Lynch SA, Wilkinson S and Hunter M Br J Gen Pract. 57 (534): 50-55, January 2007
  6. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and anirida. RA Henderson, K Williamson, S Cummng, MP Clarke, SA Lynch, IM Hanson, D Fitzpatrick, V van Heyningen, S Sisodiya and Eur J Hum Genet, 4 April 2007, EPub
  7. Reliable Genetic Tests and Testings - Diagnostic biomarkers, reference materials, and beyond. Barton DE and Kalman L Bioworld Europe, March 2007
  8. Targeted versus Whole-Genome Array Comparative Genome Hybridization: The Atlantic Divide. Wilson JA and Barton DE J Mol Diagn. 9 (2): 278, April 2007
  9. High Prevalence of Cohen Syndrome amongst Irish Travellers. Anne-Marie Murphy, Orla Flanagan, Kevin Dunne and Sally-Ann Lynch Clinical Dysmorphology, 2007

2006 Publications

  1. ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Matthew J Greenway, Peter M Andersen, Carsten Russ, Sean Ennis, Susan Cashman, Colette Donaghy, Victor Patterson, Robert Swingler, Dairin Kieran, Jochen Prehn, Karen E Morrison, Andrew Green, K Ravi Acharya, Robert H Brown Jr and Orla Hardiman Nature Genetics, 38 (4): 411-413, April 2006
  2. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis. Caitriona King and David E Barton BMC Medical Genetics, 7, 81: 2006
  3. Familial vesicoureteral reflux: influence of sex on prevalence and expression. Pirker ME, Mohanan N, Colhoun E, Barton D, Green A and Puri P Journal of Urology , 176 (4.2): 1776-1780, 2006
  4. Monitoring Standards for Molecular Genetic Testing in the United Kingdom, The Netherlands, and Ireland. Simon C. Ramsden, Zandra Deans, David O. Robinson, Roger Mountford, Erik A. Sistermans, Wayne W. Grody, Shirley McQuaid, Simon J. Patton and Susan A.R. Stenhouse Genetic Testing, 3 (10): 147-156, September 2006
  5. Medullary carcinoma of the pancreas in a man with hereditary non polyposis colon cancer due to a mutation of the MSH2 mismatch repair gene. Niamh Banville, Robert Geraghty, Edward Fox, Dermot T Leahy, Andrew Green, Denise Keegan, Justin Geoghegan, Diarmuid O’Donoghue, John Hyland and Kieran Sheehan Human Pathology, 37: 1498-1502, 2006
  6. Trisomy 21 with agenesis of the corpus callosum and a liver haemangioma. A-M Murphy, C Brenner and SA Lynch Clinical Dysmorphology, 15 (3): 149-151, 2006
  7. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE and Lindahl T Nat Genet. 38 (8): 917-920, August 2006
  8. Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS): Identification of a novel, de novo PHF6 mutation in a female patient. Crawford J, Lower KM, Hennekam RC, Van Esch H, Megarbane A, Lynch SA, Turner G and Gecz J J Med Genet. 43 (3): 238-243, March 2006
  9. Diencephalic cachexia of infancy; Russells syndrome. Murphy AM, Drumm B, Brenner C and Lynch SA Clin Dysmorph 15 (4): 253-254, 2006
  10. Malpuech syndrome: facial features in the absence of clefting. Susan M Finn and S A Lynch Clin Dysmorph 15 (4): 243-244, 2006
  11. Elevated serum angiogenin levels in ALS. Cronin S, Greenway MJ, Ennis S, Kieran D, Green A, Prehn JH and Hardiman O Neurology 67 (10): 1833-1836 28 November 2006 PMID: 17130418
  12. Health of the world’s Roma population. Green A and Lynch SA Lancet 368 (9535): Aug. 12, 2006
  13. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO and Krakow D Am J Med Genet A 140 (16): 1726-1736, 15 August 2006

2005 Publications

  1. Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing. Chen B, O’Connell CD, Boone DJ, Amos J, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM and Barton DE et al Genetics in Medicine 7 (8): 534-549, 2005
  2. Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. O’Dwyer JP, Clabby C, Crown J, Barton DE and Hutchinson M Neurology 65: 331-33, 2005
  3. Reference Materials for Human Disease Molecular Genetic Test Kits: Overcoming ‘black box’ Diagnostics. Barton DE, Klein C and Dequeker E Bioworld Europe 2005
  4. Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. Schollen E, Dequeker E, McQuaid S, Vankeirsbilck B, Michils G, Harvey J, van den Akker E, van Schooten R, Clark Z, Schrooten S and Matthijs G (DDQA Collaborative Group) Hum Mutat. 25 (6): 583-592, June 2005
  5. Uroplakin III Is Not a Major Candidate Gene for Primary Vesicoureteral Reflux. Kelly H, Ennis S, Yoneda A, Bermingham C, Shields DC, Molony C, Green AJ, Puri P and Barton DE European Journal of Human Genetics, 13: 500-502, 2005
  6. Quality Control in Mutation Detection. Barton DE Guide to Mutation Detection Taylor GR and Day INM eds, Wiley, Hoboken, New Jersey ISBN: 0-471-23444-3, 2005
  7. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, Mannon J, Jafri H, Rashid Y, Barrow M, Trembath R, Woodruff G, Rossa E, Lynch S, Sheilds J, Newbury-Ecob R, Falconer A, Cockburn D, Karbani G, Malik S, Ahmed M, Roberts E, Taylor G and Woods CG J Med Genet. 42 (2): e10, February 2005
  8. Recurrence risk for psoriasis and psoriatic arthritis within sibships. Myers A, Kay LJ, Lynch SA and Walker DJ Rheumatology (Oxford), 44 (6): 773-776, June 2005
  9. Non-multifactorial neural tube defects. Lynch SA Am J Med Genet C Semin Med Genet. 135 (1): 69-76, 15 May 2005
  10. Genetic Conditions in the Irish Roma Gypsy Population. S O’Connell, K Butler, J McMenamin, M Waldron and AJ Green Irish Medical Journal 98 (10): 246-247, 2005
  11. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Botzenhart EM, Green A, Ilyina H, Konig R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rosler B and Kohlhase J Hum Mutat. 26 (3): 282, Sep 2005
  12. Interstitial deletion of chromosome 21q and schizophrenia susceptibility. Murtagh A, McTigue O, Hegarty AM, Stallings RL, Green AJ, Ramsay L and Corvin A Schizophr Res., 23 May 2005

2004 Publications

  1. Certified Reference Materials for Genetic Testing. Barton DE, Stacey G and Klein C Encyclopedia of Medical Genomics & Proteomics, Dekker, New York, 2004
  2. Detection of Five Common CFTR Mutations by Rapid-Cycle Real-Time Amplification Refractory Mutation System PCR. Dempsey E, Barton D and Ryan F Clin. Chem. 50 (4): 773-775, 2004
  3. Who supports the support workers? Cross sectional survey of support workers experience and views. S McDonnell and SA Lynch Eur J Hum Genet. 12 (3): 251-254, March 2004
  4. Gene-gene interactions in Folate-related genes and risk of Neural tube defects in a UK population. CL Relton, CS Wilding, MS Pearce, AJ Laffling, PA Jonas, SA Lynch, EJ Tawn and J Burn J Med Genet 41: 256-260, 2004
  5. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause (ARC) arthrogryposis-renal dysfunction-cholestasis syndrome. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA and Maher ER Nat Genet. 36 (4): 400-404, April 2004
  6. Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the Northern United Kingdom. Wilding C, Relton CL, Sutton MJ, Jonas PA, Lynch SA, Tawn EJ and Burn J Birth Defects Research 70: 483-485, 2004
  7. Widespread capillary malformation associated with global developmental delay and megalencephaly. SN Leech, AEM Taylor, V Ramesh and SA Lynch Clin Dysmorp 13 (3): 169-172, 2004
  8. NBCCS secondary to an interstitial chromosome 9q deletion. Haniffa MA, Leech SN, Lynch SA and Simpson NB Clin Exp Dermatol. 29 (5): 542-544, September 2004
  9. Antley-Bixler syndrome with radioulnar synostosis. Hurley ME, White MJ, Green AJ and Kelleher J Pediatr Radiol. 34 (2): 148-151, February 2004
  10. A novel candidate region for ALS on chromosome 14q11.2. Greenway MJ, Alexander MD, Ennis S, Traynor BJ, Corr B, Frost E, Green A and Hardiman O Neurology 63 (10): 1936-1938, 23 November 2004
  11. Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19. Shahwan A, Green AJ, Carey A, Stallings RL, O’Flaherty OC and King MD Epilepsia. 45 (8): 997-1000, August 2004
  12. Li-Fraumeni Syndrome with adrenocortical tumours producing oestrogens in a young man and testosterone in his 18 months old daughter, a case report. O’Connell J, Green A, Crotty T, O’Shea D and McKenna TJ Endocrinologist 14 (3): 133-137, May 2004
  13. Oligonucleotide microarray analysis of gene expression in neuroblastoma displaying loss of chromosome 11q. McArdle L, McDermott M, Purcell R, Grehan D, O’Meara A, Breatnach F, Catchpoole D, Culhane AC, Jeffery I, Gallagher WM and Stallings RL Carcinogenesis 25 (9): 1599-1609, Sep 2004
  14. Molecular cytogenetic analysis of recurrent unbalanced t(11;17) in neuroblastoma. Stallings RL, Carty P, McArdle L, Mullarkey M, McDermott M, Breatnach F and O’Meara A Cancer Genet Cytogenet. 154 (1): 44-51, 2004
  15. Evolution of unbalanced gain of distal chromosome 2p in neuroblastoma. Stallings RL, Carty P, McArdle L, Mullarkey M, McDermott M, O’Meara A, Ryan E, Catchpoole D and Breatnach F Cytogenet Genome Res. 106 (1): 49-54, 2004. PMID: 15218241
  16. Trisomy 6 in a child with acute megakaryoblastic leukaemia (AML M7). Simon J McCullough, Maryse Power, Aengus O’Marcaigh and Michael J Neat Cancer Genet and Cytogenet. 154: 190-192, 2004
  17. Clonal karyotypic abnormalities in Philadelphia negative cells of CML patients treated with imatinib: is it under-reported and does it have any clinical significance? Derville O’Shea, Gerard Crotty, Peig Carroll, Eibhlin Conneally, Shaun McCann and Michael J Neat Br J Haematol. 127: 367-369, 2004

2003 Publications

  1. Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. Scotet V, Barton DE, Watson JB, Audrezet MP, McDevitt T, McQuaid S, Shortt C, Braekeleer MD, Ferec C and Marechal CL Hum. Mutat. 22 (1): 105, 2003
  2. Predictive testing for BRCA1 and 2 mutations: a male contribution. Daly PA, Nolan C, Green A, Ormiston W, Cody N, McDevitt T, O’hIci B, Byrne D, McDermott E, Carney DN, O’Higgins N and Barton DE Ann. Oncol. 14 (4): 549-553, 2003
  3. Nail patella syndrome: A review of the phenotype aided by developmental biology. Sweeney E, Fryer A, Mountford R, Green A and McIntosh I J. Med. Genet. 40 (3): 153-162, Mar 2003
  4. Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system. Solari V, Ennis S, Yoneda A, Wong L, Messineo A, Hollwarth M.E, Green A and Puri P J. Pediatr. Surg. 38 (3): 497-501, Mar 2003
  5. Are gains of chromosomal regions 7q and 11p important abnormalities in neuroblastoma? Stallings RL, Howard J, Dunlop A, Mullarkey M, McDermott M, Breatnach F and O’Meara A Cancer Genet Cytogenet. 140 (2): 133-137, 15 Jan 2003
  6. Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3). Gallagher L, Becker K, Kearney G, Dunlop A, Stallings R, Green A, Fitzgerald M and Gill M.J Autism Dev Disord. 33 (1): 105-108, Feb 2003. PMID: 12708586
  7. Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. Enright F, Campbell P, Stallings RL, Hall K, Green AJ, Sweeney E, Barnes L and Watson R Pediatr Dermatol. 20 (2): 153-157, Mar/Apr 2003