Research & Publications

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DCG staff are actively involved in a number of research projects.  Recent publications by DCG staff members include:

1.      Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study. Nature 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 302 Collaborators including L Bradley, A Green and SA Lynch

2.      Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. 164 collaborators including A Green. Nat Genet. 2017 May 15. doi: 10.1038/ng.3863.

3.      Genetic Drivers of Kidney Defects in the DiGeorge Syndrome Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. PMID:28121514

4.      Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Dr. Kenda RB, Barton DE, Cordell HJScientific Reports 2017, 7:14595 DOI:10.1038/s41598-017-15062-9

5.      Incidence of Fragile X syndrome in Ireland. O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA. Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081.

6.      Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients. Eustace Ryan S, Ryan F, Barton D, O'Dwyer V, Neylan D. Eye Vis (Lond). 2015;2:18.

7.      Urinary Tract Effects of HPSE2 Mutations. Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; the UK VUR Study Group, Saggar A, Kinali M; the C Study Group, Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961.

8.      Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. MacMahon JM1, O'Sullivan MJ, McDermott M, Quinn F, Morris T, Green AJ, Betts DR, O'Connell SM. Horm Res Paediatr. 2016 Sep 10. PMID: 27614983

9.      Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. Casey J1, Jenkinson A, Magee A, Ennis S, Monavari A, Green A, Lynch SA, Crushell E, Hughes J. Clin Dysmorphol. 2016 Oct;25(4):146-51. PMID: 27295358

10.   ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DD, de Souza CF, Schwartz IV, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. J Inherit Metab Dis.2016 Sep;39(5):713-23.

11.   Maternal 47,XX,i(X)(q10) as a cause of false positive sex chromosome aneuploidy in noninvasive prenatal screening.DeMaio A, Green A, Daly S. Prenat Diagn. 2016 Jul;36(7):693-5. doi: 10.1002/pd.4838. Epub 2016 Jun 7. PMID:27152665

12.   Family Communication in Inherited Cardiovascular Conditions in Ireland.Whyte S, Green A, McAllister M, Shipman H. J Genet Couns. 2016 Jun 8. [Epub ahead of print] PMID:27271705

13.   Aggressive medullary thyroid cancer, an analysis of the Irish National Cancer Registry.Lennon P, Deady S, White N, Lambert D, Healy ML, Green A, Kinsella J, Timon C, O' Neill JP. Ir J Med Sci. 2016 Apr 15.  PMID: 27083464

14.   Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. Carrigan M, Duignan E, Malone CP, Stephenson K, Saad T, McDermott C, Green A, Keegan D, Humphries P, Kenna PF, Farrar GJ. Sci Rep. 2016 Sep 14;6:33248.

15.   De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.Sleven H, Welsh SJ, Yu J, Churchill ME, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN; Deciphering Developmental Disorders study.; CAUSES study., Williams J, Clouston P, Hagman J, Németh AH. Am JHum Genet. 2016 Dec 22. pii: S0002-9297(16)30524-9. doi: 10.1016/j.ajhg.2016.11.020. PMID:28017370              

16.   Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series. Terri P McVeigh , Nuala Cody, Cliona Carroll, Marie Duff, Michael Farrell, Lisa Bradley, David Gallagher, Trudi McDevitt, Andrew J Green Cancer Genet. 2017 Aug;214-215:1-8

17.   MUTYH-Associated Polyposis: The Irish Experience. McVeigh TP, Duff M, Carroll C, O'Shea R, Bradley L, Farrell M, Gallagher DJ, Clabby C, Green AJ. Ir Med J. 2016 Dec 12;109(10):485

18.   Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers. Grainne M. O’Kane , Éanna Ryan, Terri P. McVeigh, Ben Creavin, John MP. Hyland, Diarmuid P. O’Donoghue, Denise Keegan, Robert Geraghty, Delia Flannery, Carmel Nolan, Emily Donovan, Brian J. Mehigan, Paul McCormick, Cian Muldoon, Michael Farrell, Conor Shields, Niall Mulligan, Michael John Kennedy, Andrew J. Green, Desmond C. Winter, Padraic MacMathuna, Kieran Sheahan & David J. Gallagher. Cancer Med. 2017 Jun;6(6):1465-1472

19.   Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. 162 collaborators Including A Green. Mol Autism. 2017 May 22;8:21. doi: 10.1186/s13229-017-0137-9