Associate Professor Eleni Giannoulatou

Associate Professor Eleni Giannoulatou

Conjoint Associate Professor

DPhil in Bioinformatics, University of Oxford, 2011

MPhil in Computational Biology, University of Cambridge, 2005

MEng in Computer Engineering and Informatics, University of Patras, 2004

 

Medicine & Health
School of Clinical Medicine

Eleni Giannoulatou graduated with a Masters of Computer Engineering and Informatics from the University of Patras, Greece in 2004. She next received her Master of Philosophy in Computational Biology from the University of Cambridge, UK and her Doctor of Philosophy in Bioinformatics from the University of Oxford, UK in 2011. She undertook postdoctoral work at the Wellcome Trust Centre for Human Genetics in Oxford as part of the Wellcome Trust Case Control Consortium and the Weatherall Institute of Molecular Medicine in Oxford. 

Associate Professor Giannoulatou joined the Victor Chang Cardiac Research Institute in 2013 as a member of the Bioinformatics and Systems Medicine Laboratory and in 2016 she started an independent research group.

A/Prof Giannoulatou’s research focuses on the development and application of statistical methods to answer genetic questions using high-throughput genomics data. Using the latest next-generation sequencing technologies, her team develops quantitative approaches to identify disease-causing DNA mutations and increase the current genetic diagnostic rate of cardiovascular disease.
 

Phone
(02) 9295 8669
Location
Victor Chang Cardiac Research Institute Lowy Packer Building 405 Liverpool St Darlinghurst NSW 2010 Australia
  • Book Chapters | 2016
    Giannoulatou E; Kamali AH; Yang A; Chen TY; Ho JWK, 2016, 'Quality Assurance in Genome-Scale Bioinformatics Analyses', in Wong KC (ed.), COMPUTATIONAL BIOLOGY AND BIOINFORMATICS: GENE REGULATION GENE RNA PROTEIN EPIGENETICS, CRC PRESS-TAYLOR & FRANCIS GROUP, pp. 259 - 278, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000414703600012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Book Chapters | 2016
    Wang X; McCormick HM; Djordjevic D; Giannoulatou E; Suter CM; Ho JWK, 2016, 'Epigenomic Analysis of Chromatin Organization and DNA Methylation', in Wong KC (ed.), COMPUTATIONAL BIOLOGY AND BIOINFORMATICS: GENE REGULATION GENE RNA PROTEIN EPIGENETICS, CRC PRESS-TAYLOR & FRANCIS GROUP, pp. 181 - 211, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000414703600009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
  • Journal articles | 2024
    Austin R; Brown JS; Casauria S; Madelli EO; Mattiske T; Boughtwood T; Metke A; Davis A; Horton AE; Winlaw D; Das D; Soka M; Giannoulatou E; Rath EM; Haan E; Blue GM; Vohra J; Atherton JJ; van Spaendonck-Zwarts K; Cox K; Burnett L; Wallis M; Haas M; Quinn MCJ; Pachter N; Poplawski NK; Stark Z; Bagnall RD; Weintraub RG; Pantaleo S-J; Lunke S; De Fazio P; Thompson T; James P; Chang Y; Fatkin D; Macciocca I; Ingles J; Dunwoodie SL; Semsarian C; McGaughran J; Ades L; Enriquez A; McLean A; Smyth R; Alankarage D; Fatkin D; McNamara J; Soka M; Morgan almog ; Fear V; Medi C; Stark Z; Al-Shinnag M; Fine M; Metke A; Sy R; Atherton JJ; Finlay K; Milnes D; Tang D; Austin R; Garza D; Milward M; Taylor J; Bagnall RD; Giannoulatou E; Morrish A; Taylor S; Barnett C; Gongolidis L; Morwood J; Tchan M; Blue GM; Gray B; Mountain H; Thompson T; Bodek S; Greer C; Mowat D; Thorpe J; Boggs K; Haan E; Ng C-A; Trainer A; Bogwitz M; Haas M; Nowak N; Trivedi G; Boughtwood T; Hanna B; Martinez NN; Valente G; Bray A; Harvey R; Ohanian M; van Spaendonck-Zwarts K; Brion M-J; Hayward J; O’Sullivan S; Vandenberg J; Brown J; Herrera C; Overkov A; Verma K; Richardson RB; Hill A; Pachter N; Vidgen M; Burnett L; Hollingsworth G; Patel C; Vohra J; Burns C; Hollway G; Perrin M; Waddel-Smith K; Cao M; Horton AE; Perry M; Wallis M; Carr W; Howting D; Pflaumer A; Weintraub RG; Casauria S; Ingles J; Phillips P; Wilson M; Chalinor H; Isbister J; Phuong T; Winlaw D; Chang Y; Jackson M; Pope-Couston R; Worgan L; Chapman G; James P; Poplawski NK; Wornham L; Charitou T; Jane-Pantaleo S; Punni P; Wu K; Chong B; Johnson R; Quinn MCJ; Yeates L; Collins F; Kelly A; Quinn M; Zentner D; Correnti G; King-Smith S; Rajagopalan S; Cox K; Kirk E; Raju H; Cunningham F; Kummerfeld S; Rath EM; Das D; Lassman T; Regan M; Davis J; Lipton J; Rogers J; Davis A; Lunke S; Ryan M; De Fazio P; Macciocca I; Sandaradura S; de Silva M; MacIntyre P; Schonrock N; Den Elzen N; Madelli EO; Scuffham P; Devery S; Mallawaarachchi A; Semsarian C; Dobbins J; Mansour J; Sherburn I; Dunwoodie SL; Martin E; Sherlock M-C; Dwyer N; Mathew J; Singer E; Elbracht-Leong S; Mattiske T; Smerdon C; Elliott D; McGaughran J; Smith J, 2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2, pp. 101842 - 101842, http://dx.doi.org/10.1016/j.gimo.2024.101842
    Journal articles | 2024
    Chang Y; Rath E; Singer E; Trivedi G; Soka M; Macciocca I; Ingles J; Semsarian C; McGaughran J; Fatkin D; Giannoulatou E; Bagnall R, 2024, 'Tiered Analysis of Australian Genomics Cardiovascular Genetic Disorders Flagship Genomes Increases the Diagnostic Yield of Genetic Testing', Heart, Lung and Circulation, 33, pp. S95 - S95, http://dx.doi.org/10.1016/j.hlc.2024.04.169
    Journal articles | 2024
    Claessen G; De Bosscher R; Janssens K; Young P; Dausin C; Claeys M; Claus P; Goetschalckx K; Bogaert J; Mitchell AM; Flannery MD; Elliott AD; Yu C; Ghekiere O; Robyns T; Van De Heyning CM; Sanders P; Kalman JM; Ohanian M; Soka M; Rath E; Giannoulatou E; Johnson R; Lacaze P; Herbots L; Willems R; Fatkin D; Heidbuchel H; La Gerche A; Van Soest S; Bekhuis Y; Pauwels R; De Paepe J; Hespel P; Dymarkowski S; Dresselaers T; Miljoen H; Favere K; Paelinck B; Vermeulen D; Witvrouwen I; Hansen D; Op'T Eijnde B; Thijs D; Vanvoorden P; Lefebvre K; D'Ambrosio P; Rowe S; Paratz E; Brosnan MJ; Prior DL, 2024, 'Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap with Dilated Cardiomyopathy', Circulation, 149, pp. 1405 - 1415, http://dx.doi.org/10.1161/CIRCULATIONAHA.122.063777
    Journal articles | 2024
    Gudkov M; Thibaut L; Giannoulatou E, 2024, 'Context-adjusted proportion of singletons (CAPS): a novel metric for assessing negative selection in the human genome', NAR Genomics and Bioinformatics, 6, http://dx.doi.org/10.1093/nargab/lqae111
    Journal articles | 2024
    Humphreys DT; Lewis A; Pan-Castillo B; Berti G; Mein C; Wozniak E; Gordon H; Gadhok R; Minicozzi A; ChinAleong J; Feakins R; Giannoulatou E; James LK; Stagg AJ; Lindsay JO; Silver A, 2024, 'Single cell sequencing data identify distinct B cell and fibroblast populations in stricturing Crohn's disease', Journal of Cellular and Molecular Medicine, 28, http://dx.doi.org/10.1111/jcmm.18344
    Journal articles | 2024
    Lewis A; Humphreys DT; Pan-Castillo B; Berti G; Felice C; Gordon H; Gadhok R; Nijhuis A; Mehta S S; Eleid L; Iqbal S; Armuzzi A; Minicozzi A; Giannoulatou E; Chinaleong J; Feakins R; Sagi-Kiss V; Barisic D; Koufaki MI; Bundy JG; Lindsay JO; Silver A, 2024, 'Epigenetic and Metabolic Reprogramming of Fibroblasts in Crohn's Disease Strictures Reveals Histone Deacetylases as Therapeutic Targets', Journal of Crohn's and Colitis, 18, pp. 895 - 907, http://dx.doi.org/10.1093/ecco-jcc/jjad209
    Journal articles | 2024
    McGrath-Cadell L; Hesselson S; Thompson JL; Iismaa SE; Tarr I; Muller DWM; Kovacic JC; Graham RM; Giannoulatou E, 2024, 'COL3A1 Variants in Spontaneous Coronary Artery Dissection', JACC: Advances, 3, http://dx.doi.org/10.1016/j.jacadv.2024.100986
    Journal articles | 2024
    Spencer L; Janssens K; Mitchell A; Ohanian M; Johnson R; Soka M; Young P; Giannoulatou E; Lacaze P; D'Ambrosio P; Rowe S; Van Puyvelde T; Claessens G; Fatkin D; La Gerche A, 2024, 'Genetic and Echocardiographic Determinants of Atrial Fibrillation in Athletes', Heart, Lung and Circulation, 33, pp. S129 - S129, http://dx.doi.org/10.1016/j.hlc.2024.06.018
    Journal articles | 2024
    Tarr I; Hesselson S; Troup M; Young P; Thompson JL; McGrath-Cadell L; Fatkin D; Dunwoodie SL; Muller DWM; Iismaa SE; Kovacic JC; Graham RM; Giannoulatou E, 2024, 'Polygenic Risk in Families with Spontaneous Coronary Artery Dissection', JAMA Cardiology, 9, pp. 254 - 261, http://dx.doi.org/10.1001/jamacardio.2023.5194
    Journal articles | 2024
    Thompson J-LM; Johnson R; Troup M; Rath EM; Young PE; Soka MJ; Ohanian M; Tarr IS; Giannoulatou E; Fatkin D, 2024, 'Polygenic Risk in Families With Dilated Cardiomyopathy.', Circ Genom Precis Med, pp. e004558, http://dx.doi.org/10.1161/CIRCGEN.124.004558
    Journal articles | 2024
    Wood KA; Tong RS; Motta M; Cordeddu V; Scimone ER; Bush SJ; Maxwell DW; Giannoulatou E; Caputo V; Traversa A; Mancini C; Ferrero GB; Benedicenti F; Grammatico P; Melis D; Steindl K; Brunetti-Pierri N; Trevisson E; Wilkie AO; Lin AE; Cormier-Daire V; Twigg SR; Tartaglia M; Goriely A, 2024, 'SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline', American Journal of Human Genetics, http://dx.doi.org/10.1016/j.ajhg.2024.07.006
    Journal articles | 2023
    Adlam D; Berrandou TE; Georges A; Nelson CP; Giannoulatou E; Henry J; Ma L; Blencowe M; Turley TN; Yang ML; Chopade S; Finan C; Braund PS; Sadeg-Sayoud I; Iismaa SE; Kosel ML; Zhou X; Hamby SE; Cheng J; Liu L; Tarr I; Muller DWM; d’Escamard V; King A; Brunham LR; Baranowska-Clarke AA; Debette S; Amouyel P; Olin JW; Patil S; Hesselson SE; Junday K; Kanoni S; Aragam KG; Butterworth AS; Bakker MK; Ruigrok YM; Tweet MS; Gulati R; Combaret N; Kadian-Dodov D; Kalman JM; Fatkin D; Hingorani AD; Saw J; Webb TR; Hayes SN; Yang X; Ganesh SK; Olson TM; Kovacic JC; Graham RM; Samani NJ; Bouatia-Naji N, 2023, 'Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation', Nature Genetics, 55, pp. 964 - 972, http://dx.doi.org/10.1038/s41588-023-01410-1
    Journal articles | 2023
    Al-Kaisey A; Wong GR; Young P; Chieng D; Hawson J; Anderson R; Sugumar H; Nalliah C; Prabhu M; Johnson R; Soka M; Tarr I; Bakshi A; Yu C; Lacaze P; Giannoulatou E; McLellan A; Lee G; Kistler PM; Fatkin D; Kalman JM, 2023, 'Polygenic risk scores are associated with atrial electrophysiologic substrate abnormalities and outcomes after atrial fibrillation catheter ablation', Heart Rhythm, 20, pp. 1188 - 1194, http://dx.doi.org/10.1016/j.hrthm.2023.02.011
    Journal articles | 2023
    Ballinger ML; Pattnaik S; Mundra PA; Zaheed M; Rath E; Priestley P; Baber J; Ray-Coquard I; Isambert N; Causeret S; van der Graaf WTA; Puri A; Duffaud F; Le Cesne A; Seddon B; Chandrasekar C; Schiffman JD; Brohl AS; James PA; Kurtz JE; Penel N; Myklebost O; Meza-Zepeda LA; Pickett H; Kansara M; Waddell N; Kondrashova O; Pearson JV; Barbour AP; Li S; Nguyen TL; Fatkin D; Graham RM; Giannoulatou E; Green MJ; Kaplan W; Ravishankar S; Copty J; Powell JE; Cuppen E; van Eijk K; Veldink J; Ahn JH; Kim JE; Lor Randall R; Tucker K; Judson I; Sarin R; Ludwig T; Genin E; Deleuze JF; Haber M; Marshall G; Cairns MJ; Blay JY; Thomas DM, 2023, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', Science, 379, pp. 253 - 260, http://dx.doi.org/10.1126/science.abj4784
    Journal articles | 2023
    Bax M; Junday K; Tarr I; Hesselson S; McGrath-Cadell L; Iismaa S; Giannoulatou E; Graham R, 2023, 'Proteomic Analysis Reveals TGFB Pathway Perturbation in Spontaneous Coronary Artery Dissection (SCAD) Patient iPSC Derived Endothelial Cells', Heart, Lung and Circulation, 32, pp. S416 - S416, http://dx.doi.org/10.1016/j.hlc.2023.06.585
    Journal articles | 2023
    Bernkopf M; Abdullah UB; Bush SJ; Wood KA; Ghaffari S; Giannoulatou E; Koelling N; Maher GJ; Thibaut LM; Williams J; Blair EM; Kelly FB; Bloss A; Burkitt-Wright E; Canham N; Deng AT; Dixit A; Eason J; Elmslie F; Gardham A; Hay E; Holder M; Homfray T; Hurst JA; Johnson D; Jones WD; Kini U; Kivuva E; Kumar A; Lees MM; Leitch HG; Morton JEV; Németh AH; Ramachandrappa S; Saunders K; Shears DJ; Side L; Splitt M; Stewart A; Stewart H; Suri M; Clouston P; Davies RW; Wilkie AOM; Goriely A, 2023, 'Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation', Nature Communications, 14, http://dx.doi.org/10.1038/s41467-023-36606-w
    Journal articles | 2023
    Gudkov M; Thibaut L; Khushi M; Blue GM; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2023, 'ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data', BMC Bioinformatics, 24, http://dx.doi.org/10.1186/s12859-023-05154-x
    Journal articles | 2023
    He WQ; Nassar N; Schneuer FJ; Lain SJ; Dunwoodie SL; Winlaw D; Giannoulatou E; Kirk E; Chapman G; Blue G; Sholler G, 2023, 'Examination of validity of identifying congenital heart disease from hospital discharge data without a gold standard: Using a data linkage approach', Paediatric and Perinatal Epidemiology, 37, pp. 303 - 312, http://dx.doi.org/10.1111/ppe.12976
    Journal articles | 2023
    Johnson R; Otway R; Chin E; Horvat C; Ohanian M; Wilcox JAL; Su Z; Prestes P; Smolnikov A; Soka M; Guo G; Rath E; Chakravorty S; Chrzanowski L; Hayward CS; Keogh AM; MacDonald PS; Giannoulatou E; Chang ACY; Oates EC; Charchar F; Seidman JG; Seidman CE; Hegde M; Fatkin D, 2023, 'DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies', Circulation: Genomic and Precision Medicine, 16, pp. 421 - 430, http://dx.doi.org/10.1161/CIRCGEN.123.004221
    Journal articles | 2023
    McGrath-Cadell L; Hesselson S; Thompson J; Iismaa S; Tarr I I; Muller D; Kovacic J; Graham R; Giannoulatou E, 2023, 'COL3A1 Mutations in Spontaneous Coronary Artery Dissection', Heart, Lung and Circulation, 32, pp. S126 - S126, http://dx.doi.org/10.1016/j.hlc.2023.06.757
    Journal articles | 2023
    Mcgrath-Cadell L; Hessleson S; Thompson JL; Iismaa SE; Tarr I; Muller DWM; Kovacic J; Graham RM; Giannoulatou E, 2023, 'COL3A1 mutations in spontaneous coronary artery dissection', European Heart Journal, 44, http://dx.doi.org/10.1093/eurheartj/ehad655.1395
    Journal articles | 2023
    Tsekoura M; Fousekis K; Roukounaki M; Giannoulatou E; Kolokithas G; Sakellaropoulou ; Gridelas A; Kastrinis A; Billis E; Tsepis E, 2023, 'Investigation of Physical Activity Levels and Associated Factors of Greek Older Adults During COVID-19 Pandemic: A Community-Based Cross-Sectional Study', , 1425, pp. 353 - 358, http://dx.doi.org/10.1007/978-3-031-31986-0_34
    Journal articles | 2022
    Al-Kaisey A; Wong G; Young P; Hawson J; Chieng D; Bakshi A; Lacaze P; Giannoulatou E; Kistler P; Fatkin D; Kalman J, 2022, 'Polygenic Risk Scores Identify Atrial Electrophysiological Substrate Abnormalities and Predict Atrial Fibrillation Recurrence Following Catheter Ablation', Heart, Lung and Circulation, 31, pp. S52 - S52, http://dx.doi.org/10.1016/j.hlc.2022.06.027
    Journal articles | 2022
    Bax M; Junday K; Iismaa S; Hesselson S; Tarr I; McGrath-Cadell L; Dunwoodie S; Giannoulatou E; Graham R, 2022, 'Induced Pluripotent Stem Cell-Derived Models of Spontaneous Coronary Artery Dissection', Heart, Lung and Circulation, 31, pp. S87 - S87, http://dx.doi.org/10.1016/j.hlc.2022.06.097
    Journal articles | 2022
    Bax M; Romanov V; Junday K; Giannoulatou E; Martinac B; Kovacic JC; Liu R; Iismaa SE; Graham RM, 2022, 'Arterial dissections: Common features and new perspectives', Frontiers in Cardiovascular Medicine, 9, http://dx.doi.org/10.3389/fcvm.2022.1055862
    Journal articles | 2022
    Blokland GAM; Grove J; Chen CY; Cotsapas C; Tobet S; Handa R; St Clair D; Lencz T; Mowry BJ; Periyasamy S; Cairns MJ; Tooney PA; Wu JQ; Kelly B; Kirov G; Sullivan PF; Corvin A; Riley BP; Esko T; Milani L; Jönsson EG; Palotie A; Ehrenreich H; Begemann M; Steixner-Kumar A; Sham PC; Iwata N; Weinberger DR; Gejman PV; Sanders AR; Buxbaum JD; Rujescu D; Giegling I; Konte B; Hartmann AM; Bramon E; Murray RM; Pato MT; Lee J; Melle I; Molden E; Ophoff RA; McQuillin A; Bass NJ; Adolfsson R; Malhotra AK; Martin NG; Fullerton JM; Mitchell PB; Schofield PR; Forstner AJ; Degenhardt F; Schaupp S; Comes AL; Kogevinas M; Guzman-Parra J; Reif A; Streit F; Sirignano L; Cichon S; Grigoroiu-Serbanescu M; Hauser J; Lissowska J; Mayoral F; Müller-Myhsok B; Swiatkowska B; Schulze TG; Nöthen MM; Rietschel M; Kelsoe J; Leboyer M; Jamain S; Etain B; Bellivier F; Vincent JB; Alda M; O'Donovan C; Cervantes P; Biernacka JM; Frye M; McElroy SL; Scott LJ; Stahl EA; Landén M; Hamshere ML; Smeland OB; Djurovic S; Vaaler AE; Andreassen OA; Baune BT; Air TM; Preisig M; Uher R; Levinson DF; Weissman MM; Potash JB; Shi J; Knowles JA; Perlis RH; Lucae S; Schofield P; Carr V; Shannon Weickert C; Green M; Scott R; Giannoulatou E, 2022, 'Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders', Biological Psychiatry, 91, pp. 102 - 117, http://dx.doi.org/10.1016/j.biopsych.2021.02.972
    Journal articles | 2022
    Blue GM; Ip EKK; Troup M; Dale RC; Sholler GF; Harvey RP; Dunwoodie SL; Giannoulatou E; Winlaw DS, 2022, 'Insights into the genetic architecture underlying complex, critical congenital heart disease.', American Heart Journal, 254, pp. 166 - 171, http://dx.doi.org/10.1016/j.ahj.2022.09.006
    Journal articles | 2022
    Blue GM; Mekel M; Das D; Troup M; Rath E; Ip E; Gudkov M; Perumal G; Harvey RP; Sholler GF; Gecz J; Kirk EP; Liu J; Giannoulatou E; Hong H; Dunwoodie SL; Winlaw DS, 2022, 'Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes', American Heart Journal, 244, pp. 1 - 13, http://dx.doi.org/10.1016/j.ahj.2021.10.185
    Journal articles | 2022
    Ip EKK; Troup M; Xu C; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2022, 'Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application', Frontiers in Genetics, 13, http://dx.doi.org/10.3389/fgene.2022.692257
    Journal articles | 2022
    Kobiela A; Frackowiak JE; Biernacka A; Hovhannisyan L; Bogucka AE; Panek K; Paul AA; Lukomska J; Wang X; Giannoulatou E; Krolicka A; Zielinski J; Deptula M; Pikula M; Gabrielsson S; Ogg GS; Gutowska-Owsiak D, 2022, 'Exposure of Keratinocytes to Candida Albicans in the Context of Atopic Milieu Induces Changes in the Surface Glycosylation Pattern of Small Extracellular Vesicles to Enhance Their Propensity to Interact With Inhibitory Siglec Receptors', Frontiers in Immunology, 13, http://dx.doi.org/10.3389/fimmu.2022.884530
    Journal articles | 2022
    Ridone P; Ishida T; Lin A; Humphreys DT; Giannoulatou E; Sowa Y; Baker MAB, 2022, 'The rapid evolution of flagellar ion selectivity in experimental populations of E. coli', Science Advances, 8, http://dx.doi.org/10.1126/sciadv.abq2492
    Journal articles | 2022
    Tarr I; Hesselson S; Iismaa SE; Rath E; Monger S; Troup M; Mishra K; Wong CMY; Hsu PC; Junday K; Humphreys DT; Adlam D; Webb TR; Baranowska-Clarke AA; Hamby SE; Carss KJ; Samani NJ; Bax M; McGrath-Cadell L; Kovacic JC; Dunwoodie SL; Fatkin D; Muller DWM; Graham RM; Giannoulatou E, 2022, 'Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing', Circulation: Genomic and Precision Medicine, 15, pp. 267 - 277, http://dx.doi.org/10.1161/CIRCGEN.121.003527
    Journal articles | 2022
    Yang A; Alankarage D; Cuny H; Ip EKK; Almog M; Lu J; Das D; Enriquez A; Szot JO; Humphreys DT; Blue GM; Ho JWK; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2022, 'CHDgene: A Curated Database for Congenital Heart Disease Genes', Circulation: Genomic and Precision Medicine, 15, pp. E003539 - E003539, http://dx.doi.org/10.1161/CIRCGEN.121.003539
    Journal articles | 2021
    Alankarage D; Szot JO; Pachter N; Slavotinek A; Selleri L; Shieh JT; Winlaw D; Giannoulatou E; Chapman G; Dunwoodie SL, 2021, 'Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease', Human Molecular Genetics, 29, pp. 1068 - 1082, http://dx.doi.org/10.1093/HMG/DDZ231
    Journal articles | 2021
    Alvarez MEV; Chivers M; Borovska I; Monger S; Giannoulatou E; Kralovicova J; Vorechovsky I, 2021, 'Transposon clusters as substrates for aberrant splice-site activation', RNA Biology, 18, pp. 354 - 367, http://dx.doi.org/10.1080/15476286.2020.1805909
    Journal articles | 2021
    Bax M; Junday K; Hesselson S; Iismaa S; Tarr I; McGrath-Cadell L; Dunwoodie S; Fatkin D; Kovacic J; Muller D; Giannoulatou E; Graham R, 2021, 'Modelling Spontaneous Coronary Artery Dissection With iPSC-Derived Vascular Cells', Heart, Lung and Circulation, 30, pp. S131 - S131, http://dx.doi.org/10.1016/j.hlc.2021.06.089
    Journal articles | 2021
    Chatzopoulos K; Kotoula V; Koliou GA; Giannoulatou E; Papadopoulou K; Karavasilis V; Pazarli E; Pervana S; Kafiri G; Tsoulfas G; Chrisafi S; Sgouramali H; Papakostas P; Pectasides D; Hytiroglou P; Pentheroudakis G; Fountzilas G, 2021, 'Genotype-phenotype associations in colorectal adenocarcinomas and their matched metastases', Human Pathology, 107, pp. 104 - 116, http://dx.doi.org/10.1016/j.humpath.2020.10.009
    Journal articles | 2021
    Fountzilas E; Kotoula V; Koliou GA; Liontos M; Papadopoulou K; Giannoulatou E; Papanikolaou A; Tikas I; Chrisafi S; Mauri D; Chatzopoulos K; Fostira F; Pectasides D; Oikonomopoulos G; Aivazi D; Andrikopoulou A; Visvikis A; Aravantinos G; Zagouri F; Fountzilas G, 2021, 'Tumor Genotyping and Homologous Recombination Repair Gene Variants in Patients With Epithelial Ovarian Cancer: Is Pathogenic Enough?', Frontiers in Oncology, 11, http://dx.doi.org/10.3389/fonc.2021.683057
    Journal articles | 2021
    Iismaa SE; Hesselson S; McGrath-Cadell L; Muller DW; Fatkin D; Giannoulatou E; Kovacic J; Graham RM, 2021, 'Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: Vasculopathies With a Predilection for Women', Heart Lung and Circulation, 30, pp. 27 - 35, http://dx.doi.org/10.1016/j.hlc.2020.05.110
    Journal articles | 2021
    Kalisch-Smith JI; Ved N; Szumska D; Munro J; Troup M; Harris SE; Rodriguez-Caro H; Jacquemot A; Miller JJ; Stuart EM; Wolna M; Hardman E; Prin F; Lana-Elola E; Aoidi R; Fisher EMC; Tybulewicz VLJ; Mohun TJ; Lakhal-Littleton S; De Val S; Giannoulatou E; Sparrow DB, 2021, 'Maternal iron deficiency perturbs embryonic cardiovascular development in mice', Nature Communications, 12, http://dx.doi.org/10.1038/s41467-021-23660-5
    Journal articles | 2021
    Kotoula V; Chatzopoulos K; Papadopoulou K; Giannoulatou E; Koliou GA; Karavasilis V; Pazarli E; Pervana S; Kafiri G; Tsoulfas G; Chrisafi S; Sgouramali H; Papakostas P; Pectasides D; Hytiroglou P; Pentheroudakis G; Fountzilas G, 2021, 'Genotyping data of routinely processed matched primary/metastatic tumor samples', Data in Brief, 34, http://dx.doi.org/10.1016/j.dib.2020.106646
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    McGrath-Cadell L; Hesselson S; Tarr I; Iismaa S; Bax M; Junday K; Dunwoodie S; Fatkin D; Kovacic J; Muller D; Giannoulatou E; Graham B, 2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a Family History of Aortic Artery Dissection—A Case Series', Heart, Lung and Circulation, 30, pp. S252 - S252, http://dx.doi.org/10.1016/j.hlc.2021.06.350
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    McGrath-Cadell L; Hesselson S; Tarr I; Iismaa SE; Bax M; Junday K; Dunwoodie SE; Fatkin D; Kovacic J; Muller DWM; Giannoulatou E; Graham RM, 2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a family history of aortic artery dissection, a case series', European Heart Journal, 42, http://dx.doi.org/10.1093/eurheartj/ehab724.2787
    Journal articles | 2021
    McGrath-Cadell L; Iismaa SE; Hesselson S; Muller DW; Fatkin D; Giannoulatou E; Kovacic JC; Graham RM, 2021, 'Recent Updates on Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia', International Journal of Integrative Cardiology, 3, http://dx.doi.org/10.47275/2690-862x-121
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    Ridone P; Ishida T; Lin A; Humphreys D; Giannoulatou E; Sowa Y; Baker M, 2021, 'The rapid evolution of flagellar ion-selectivity in experimental populations ofE. coli', , http://dx.doi.org/10.1101/2021.01.26.427765
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    Tarr I; Hesselson S; Iismaa S; Troup M; Young P; Mishra K; Wong C; Junday K; Humphreys D; Dunwoodie S; Fatkin D; Muller D; Graham RM; Giannoulatou E, 2021, 'Abstract 11949: Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', Circulation, 144, pp. a11949 - a11949, http://dx.doi.org/10.1161/circ.144.suppl_1.11949
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    Blue G; Ip E; Sholler G; Harvey R; Giannoulatou E; Dunwoodie S; Winlaw D, 2020, '584 Genetic Signatures Associated With CHD Severity Are Specific to High-Confidence CHD Genes.', Heart, Lung and Circulation, 29, pp. S300 - S300, http://dx.doi.org/10.1016/j.hlc.2020.09.591
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    Carss KJ; Baranowska AA; Armisen J; Webb TR; Hamby SE; Premawardhana D; Al-Hussaini A; Wood A; Wang Q; Deevi SVV; Vitsios D; Lewis SH; Kotecha D; Bouatia-Naji N; Hesselson S; Iismaa SE; Tarr I; McGrath-Cadell L; Muller DW; Dunwoodie SL; Fatkin D; Graham RM; Giannoulatou E; Samani NJ; Petrovski S; Haefliger C; Adlam D, 2020, 'Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing', Circulation: Genomic and Precision Medicine, 13, pp. E003030, http://dx.doi.org/10.1161/CIRCGEN.120.003030
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    Chapman G; Moreau JLM; I P E; Szot JO; Iyer KR; Shi H; Yam MX; O'Reilly VC; Enriquez A; Greasby JA; Alankarage D; Martin EMMA; Hanna BC; Edwards M; Monger S; Blue GM; Winlaw DS; Ritchie HE; Grieve SM; Giannoulatou E; Sparrow DB; Dunwoodie SL, 2020, 'Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants', Human Molecular Genetics, 29, pp. 566 - 579, http://dx.doi.org/10.1093/hmg/ddz270
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    Dickinson M; Kliszczak AE; Giannoulatou E; Peppa D; Pellegrino P; Williams I; Drakesmith H; Borrow P, 2020, 'Dynamics of Transforming Growth Factor (TGF)-β Superfamily Cytokine Induction During HIV-1 Infection Are Distinct From Other Innate Cytokines', Frontiers in Immunology, 11, http://dx.doi.org/10.3389/fimmu.2020.596841
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    Fountzilas E; Kotoula V; Koliou GA; Giannoulatou E; Gogas H; Papadimitriou C; Tikas I; Zhang J; Papadopoulou K; Zagouri F; Christodoulou C; Koutras A; Makatsoris T; Chrisafi S; Linardou H; Varthalitis I; Papatsibas G; Razis E; Papakostas P; Samantas E; Aravantinos G; Bafaloukos D; Kosmidis P; Koumarianou A; Psyrri A; Pentheroudakis G; Pectasides D; Futreal A; Fountzilas G; Tsimberidou AM, 2020, 'Pathogenic mutations and overall survival in 3,084 patients with cancer: The Hellenic Cooperative oncology group precision medicine initiative', Oncotarget, 11, pp. 1 - 14, http://dx.doi.org/10.18632/oncotarget.27338
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    Ip EKK; Hadinata C; Ho JWK; Giannoulatou E, 2020, 'Dv-trio: A family-based variant calling pipeline using DeepVariant', Bioinformatics, 36, pp. 3549 - 3551, http://dx.doi.org/10.1093/bioinformatics/btaa116
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    Kalisch-Smith J; Ved N; Szumska D; Munro J; Troup M; Harris S; Jacquemot A; Miller J; Stuart E; Wolna M; Hardman E; Prin F; Lana-Elola E; Aoidi R; Fisher E; Tybulewicz V; Mohun T; Lakhal-Littleton S; Giannoulatou E; Sparrow D, 2020, 'Maternal iron deficiency perturbs embryonic cardiovascular development', , http://dx.doi.org/10.1101/2020.08.03.230615
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    Martin EMMA; Enriquez A; Sparrow DB; Humphreys DT; McInerney-Leo AM; Leo PJ; Duncan EL; Iyer KR; Greasby JA; Ip E; Giannoulatou E; Sheng D; Wohler E; Dimartino C; Amiel J; Capri Y; Lehalle D; Mory A; Wilnai Y; Lebenthal Y; Gharavi AG; Krzemień GG; Miklaszewska M; Steiner RD; Raggio C; Blank R; Baris Feldman H; Milo Rasouly H; Sobreira NLM; Jobling R; Gordon CT; Giampietro PF; Dunwoodie SL; Chapman G, 2020, 'Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice', Human Molecular Genetics, 29, pp. 3662 - 3678, http://dx.doi.org/10.1093/hmg/ddaa258
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    Nikolaidi A; Kotoula V; Koliou GA; Giannoulatou E; Papadopoulou K; Zagouri F; Pentheroudakis G; Gogas H; Bobos M; Chatzopoulos K; Oikonomopoulos G; Pectasides D; Saloustros E; Arnogiannaki N; Nicolaou I; Papakostas P; Bompolaki I; Aravantinos G; Athanasiadis I; Fountzilas G, 2020, 'Tumor mutational patterns and infiltrating lymphocyte density in young and elderly patients with breast cancer', Cancer Genomics and Proteomics, 17, pp. 181 - 193, http://dx.doi.org/10.21873/cgp.20179
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    Pectasides E; Chatzidakis I; Kotoula V; Koliou GA; Papadopoulou K; Giannoulatou E; Giannouzakos VG; Bobos M; Papavasileiou C; Chrisafi S; Florou A; Pectasides D; Fountzilas G, 2020, 'Prognostic Biomarkers in Early-stage Gastric Adenocarcinoma Treated with Adjuvant Chemoradiotherapy', Cancer Genomics and Proteomics, 17, pp. 277 - 290, http://dx.doi.org/10.21873/cgp.20188
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    Razis E; Kotoula V; Koliou GA; Papadopoulou K; Vrettou E; Giannoulatou E; Tikas I; Labropoulos SV; Rigakos G; Papaemmanoyil S; Romanidou O; Bourkoula E; Nomikos P; Iliadis G; Nasioulas G; Selviaridis P; Polyzoidis K; Fountzilas G, 2020, 'Is There an Independent Role of TERT and NF1 in High Grade Gliomas?', Translational Oncology, 13, pp. 346 - 354, http://dx.doi.org/10.1016/j.tranon.2019.10.016
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    Wang Q; Ye J; Fang D; Lv L; Wu W; Shi D; Li Y; Yang L; Bian X; Wu J; Jiang X; Wang K; Wang Q; Hodson MP; Thibaut LM; Ho JWK; Giannoulatou E; Li L, 2020, 'Multi-omic profiling reveals associations between the gut mucosal microbiome, the metabolome, and host DNA methylation associated gene expression in patients with colorectal cancer', BMC Microbiology, 20, http://dx.doi.org/10.1186/s12866-020-01762-2
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    Ho JWK; Giannoulatou E, 2019, 'Big data: the elements of good questions, open data, and powerful software', Biophysical Reviews, 11, http://dx.doi.org/10.1007/s12551-019-00500-x
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    Horvat C; Johnson R; Lam L; Munro J; Mazzarotto F; Roberts AM; Herman DS; Parfenov M; Haghighi A; McDonough B; DePalma SR; Keogh AM; Macdonald PS; Hayward CS; Roberts A; Barton PJR; Felkin LE; Giannoulatou E; Cook SA; Seidman JG; Seidman CE; Fatkin D, 2019, 'A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy', Genetics in Medicine, 21, pp. 133 - 143, http://dx.doi.org/10.1038/s41436-018-0036-2
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    Iglesias AI; Mishra A; Vitart V; Bykhovskaya Y; Höhn R; Springelkamp H; Cuellar-Partida G; Gharahkhani P; Bailey JNC; Willoughby CE; Li X; Yazar S; Nag A; Khawaja AP; Polašek O; Siscovick D; Mitchell P; Tham YC; Haines JL; Kearns LS; Hayward C; Shi Y; van Leeuwen EM; Taylor KD; Wang JJ; Rochtchina E; Attia J; Scott R; Holliday EG; Wong TY; Baird PN; Xie J; Inouye M; Viswanathan A; Sim X; Bonnemaijer P; Rotter JI; Martin NG; Zeller T; Mills RA; Souzeau E; Staffieri SE; Jonas JB; Schmidtmann I; Boutin T; Kang JH; Lucas SEM; Beutel ME; Wilson JF; Donnelly P; Barroso I; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Deloukas P; Duncanson A; Jankowski J; Markus HS; Mathew CG; Palmer CNA; Plomin R; Rautanen A; Sawcer SJ; Trembath RC; Wood NW; Spencer CCA; Band G; Bellenguez C; Freeman C; Hellenthal G; Giannoulatou E; Pirinen M; Pearson R; Strange A; Su Z; Vukcevic D; Langford C; Hunt SE; Edkins S; Gwilliam R; Blackburn H; Bumpstead SJ; Dronov S; Gillman M; Gray E; Hammond N; Jayakumar A; McCann OT; Liddle J; Potter SC; Ravindrarajah R; Ricketts M; Waller M; Weston P; Widaa S; Whittaker P; Allingham RR; Brilliant MH, 2019, 'Erratum to: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (Nature Communications, (2018), 9, 1, (1864), 10.1038/s41467-018-03646-6)', Nature Communications, 10, http://dx.doi.org/10.1038/s41467-018-07819-1
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    Ip E; Chapman G; Winlaw D; Dunwoodie SL; Giannoulatou E, 2019, 'VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants', Genomics, Proteomics and Bioinformatics, 17, pp. 540 - 545, http://dx.doi.org/10.1016/j.gpb.2019.11.001
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    Kotoula V; Lakis S; Tikas I; Giannoulatou E; Lazaridis G; Papadopoulou K; Manoussou K; Efstratiou I; Papanikolaou A; Fostira F; Vlachos I; Tarlatzis B; Fountzilas G, 2019, 'Pathogenic BRCA1 mutations may be necessary but not sufficient for tissue genomic heterogeneity: Deep sequencing data from ovarian cancer patients', Gynecologic Oncology, 152, pp. 375 - 386, http://dx.doi.org/10.1016/j.ygyno.2018.11.016
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    Kotoula V; Tsakiri K; Koliou GA; Lazaridis G; Papadopoulou K; Giannoulatou E; Tikas I; Christodoulou C; Chatzopoulos K; Bobos M; Pentheroudakis G; Tsolaki E; Batistatou A; Kotsakis A; Koutras A; Linardou H; Razis E; Res E; Pectasides D; Fountzilas G, 2019, 'Relapsed and De Novo Metastatic HER2-positive Breast Cancer Treated With Trastuzumab: Tumor Genotypes and Clinical Measures Associated With Patient Outcome', Clinical Breast Cancer, 19, pp. 113 - 125.e4, http://dx.doi.org/10.1016/j.clbc.2018.10.014
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    Lazaridis G; Kotoula V; Vrettou E; Kostopoulos I; Manousou K; Papadopoulou K; Giannoulatou E; Bobos M; Sotiropoulou M; Pentheroudakis G; Efstratiou I; Papoudou-Bai A; Psyrri A; Christodoulou C; Gogas H; Koutras A; Timotheadou E; Pectasides D; Zagouri F; Fountzilas G, 2019, 'Opposite Prognostic Impact of Single PTEN-loss and PIK3CA Mutations in Early High-risk Breast Cancer', Cancer Genomics and Proteomics, 16, pp. 195 - 206, http://dx.doi.org/10.21873/cgp.20125
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    Lewis A; Nijhuis A; Berti G; Felice C; Jeffrey R; Iqbal S; Pomeranc AB; Aldelemi S; Mehta S; Giannoulatou E; Feakins R; Armuzzi A; Lindsay JO; Silver A, 2019, 'DOP20 Drugs that modulate histone acetylation disrupt TGF-β-signalling and reduce collagen I expression in models of stricturing Crohn’s disease', Journal of Crohn's and Colitis, 13, pp. S037 - S038, http://dx.doi.org/10.1093/ecco-jcc/jjy222.055
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    McGrath-Cadell L; Hesselson S; Iismaa S; Mishra K; Wong C; Fatkin D; Dunwoodie S; Harvey R; Holloway C; Muller D; Giannoulatou E; Graham R, 2019, 'Familial Clustering of Spontaneous Coronary Artery Dissection', Heart, Lung and Circulation, 28, pp. S330 - S330, http://dx.doi.org/10.1016/j.hlc.2019.06.454
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    McGrath-Cadell L; Hesselson S; Iismaa SE; Mishra K; Wong CMY; Fatkin D; Dunwoodie SL; Harvey R; Holloway CJ; Muller DWM; Giannoulatou E; Graham RM, 2019, 'P5540Familial clustering of spontaneous coronary artery dissection', European Heart Journal, 40, http://dx.doi.org/10.1093/eurheartj/ehz746.0486
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    Monger S; Troup M; Ip E; Dunwoodie SL; Giannoulatou E, 2019, 'Spliceogen: An integrative, scalable tool for the discovery of splice-altering variants', Bioinformatics, 35, pp. 4405 - 4407, http://dx.doi.org/10.1093/bioinformatics/btz263
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    Wang Q; Kotoula V; Hsu PC; Papadopoulou K; Ho JWK; Fountzilas G; Giannoulatou E, 2019, 'Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data', BMC Medical Genomics, 12, http://dx.doi.org/10.1186/s12920-019-0636-y
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    Wang Q; Wang K; Wu W; Giannoulatou E; Ho JWK; Li L, 2019, 'Host and microbiome multi-omics integration: applications and methodologies', Biophysical Reviews, 11, pp. 55 - 65, http://dx.doi.org/10.1007/s12551-018-0491-7
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    Blue GM; Ip E; Walker K; Kirk EP; Loughran-Fowlds A; Sholler GF; Dunwoodie SL; Harvey RP; Giannoulatou E; Badawi N; Winlaw DS, 2018, 'Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease', American Heart Journal, 201, pp. 33 - 39, http://dx.doi.org/10.1016/j.ahj.2018.03.021
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    Fountzilas G; Psyrri A; Giannoulatou E; Tikas I; Manousou K; Rontogianni D; Ciuleanu E; Ciuleanu T; Resiga L; Zaramboukas T; Papadopoulou K; Bobos M; Chrisafi S; Tsolaki E; Markou K; Giotakis E; Koutras A; Psoma E; Kalogera-Fountzila A; Skondra M; Bamia C; Pectasides D; Kotoula V, 2018, 'Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe', International Journal of Cancer, 142, pp. 66 - 80, http://dx.doi.org/10.1002/ijc.31023
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    Iglesias AI; Mishra A; Vitart V; Bykhovskaya Y; Höhn R; Springelkamp H; Cuellar-Partida G; Gharahkhani P; Bailey JNC; Willoughby CE; Li X; Yazar S; Nag A; Khawaja AP; Polašek O; Siscovick D; Mitchell P; Tham YC; Haines JL; Kearns LS; Hayward C; Shi Y; Van Leeuwen EM; Taylor KD; Wang JJ; Rochtchina E; Attia J; Scott R; Holliday EG; Baird PN; Xie J; Inouye M; Viswanathan A; Sim X; Bonnemaijer P; Rotter JI; Martin NG; Zeller T; Mills RA; Staffieri SE; Jonas JB; Schmidtmann I; Boutin T; Kang JH; Lucas SEM; Wong TY; Beutel ME; Wilson JF; Allingham RR; Brilliant MH; Budenz DL; Christen WG; Fingert J; Friedman DS; Gaasterland D; Gaasterland T; Hauser MA; Kraft P; Lee RK; Lichter PR; Liu Y; Loomis SJ; Moroi SE; Pericak-Vance MA; Realini A; Richards JE; Schuman JS; Scott WK; Singh K; Sit AJ; Vollrath D; Weinreb RN; Wollstein G; Zack DJ; Zhang K; Donnelly P; Barroso I; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Deloukas P; Duncanson A; Jankowski J; Markus HS; Mathew CG; Palmer CNA; Plomin R; Rautanen A; Sawcer SJ; Trembath RC; Wood NW; Spencer CCA; Band G; Bellenguez C; Freeman C; Hellenthal G; Giannoulatou E; Pirinen M, 2018, 'Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases', Nature Communications, 9, http://dx.doi.org/10.1038/s41467-018-03646-6
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    Maher G; Ralph H; Ding Z; Koelling N; Mlcochova H; Giannoulatou E; Dhami P; Paul D; Stricker S; Beck S; McVean G; Wilkie AOM; Goriely A, 2018, 'Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes', , http://dx.doi.org/10.1101/314815
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    Maher GJ; Ralph HK; Ding Z; Koelling N; Mlcochova H; Giannoulatou E; Dhami P; Paul DS; Stricker SH; Beck S; McVean G; Wilkie AOM; Goriely A, 2018, 'Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes', Genome Research, 28, pp. 1779 - 1790, http://dx.doi.org/10.1101/gr.239186.118
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    Papaxoinis G; Kotoula V; Giannoulatou E; Koliou GA; Karavasilis V; Lakis S; Koureas A; Bobos M; Chalaralambous E; Daskalaki E; Chatzopoulos K; Tsironis G; Pazarli E; Chrisafi S; Samantas E; Kaklamanos IG; Varthalitis I; Konstantara A; Syrigos KN; Pentheroudakis G; Pectasides D; Fountzilas G, 2018, 'Phase II study of panitumumab combined with capecitabine and oxaliplatin as first-line treatment in metastatic colorectal cancer patients: clinical results including extended tumor genotyping', Medical Oncology, 35, http://dx.doi.org/10.1007/s12032-018-1160-1
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    Rigoni A; Poulsom R; Jeffery R; Mehta S; Lewis A; Yau C; Giannoulatou E; Feakins R; Lindsay JO; Colombo MP; Silver A, 2018, 'Separation of Dual Oxidase 2 and Lactoperoxidase Expression in Intestinal Crypts and Species Differences May Limit Hydrogen Peroxide Scavenging during Mucosal Healing in Mice and Humans', Inflammatory Bowel Diseases, 24, pp. 136 - 148, http://dx.doi.org/10.1093/ibd/izx024
    Journal articles | 2018
    Ruderfer DM; Ripke S; McQuillin A; Boocock J; Stahl EA; Pavlides JMW; Mullins N; Charney AW; Ori APS; Loohuis LMO; Domenici E; Di Florio A; Papiol S; Kalman JL; Trubetskoy V; Adolfsson R; Agartz I; Agerbo E; Akil H; Albani D; Albus M; Alda M; Alexander M; Alliey-Rodriguez N; Als TD; Amin F; Anjorin A; Arranz MJ; Awasthi S; Bacanu SA; Badner JA; Baekvad-Hansen M; Bakker S; Band G; Barchas JD; Barroso I; Bass N; Bauer M; Baune BT; Begemann M; Bellenguez C; Belliveau RA; Bellivier F; Bender S; Bene J; Bergen SE; Berrettini WH; Bevilacqua E; Biernacka JM; Bigdeli TB; Black DW; Blackburn H; Blackwell JM; Blackwood DHR; Pedersen CB; Boehnke M; Boks M; Borglum AD; Bramon E; Breen G; Brown MA; Bruggeman R; Buccola NG; Buckner RL; Budde M; Bulik-Sullivan B; Bumpstead SJ; Bunney W; Burmeister M; Buxbaum JD; Bybjerg-Grauholm J; Byerley W; Cahn W; Cai G; Cairns MJ; Campion D; Cantor RM; Carr VJ; Carrera N; Casas JP; Casas M; Catts SV; Cervantes P; Chambert KD; Chan RCK; Chen EYH; Chen RYL; Cheng W; Cheung EFC; Chong SA; Clarke TK; Cloninger CR; Cohen D; Cohen N; Coleman JRI; Collier DA; Cormican P; Coryell W; Craddock N; Craig DW; Shannon Weickert C; Giannoulatou E; Schofield P; Weickert T; Mitchell P; Green M; Fullerton J; Hammond N, 2018, 'Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes', Cell, 173, pp. 1705 - 1715.e16, http://dx.doi.org/10.1016/j.cell.2018.05.046
    Journal articles | 2018
    Strange G; Lau EM; Giannoulatou E; Corrigan C; Kotlyar E; Kermeen F; Williams T; Celermajer DS; Dwyer N; Whitford H; Wrobel JP; Feenstra J; Lavender M; Whyte K; Collins N; Steele P; Proudman S; Thakkar V; Keating D; Keogh A, 2018, 'Survival of Idiopathic Pulmonary Arterial Hypertension Patients in the Modern Era in Australia and New Zealand', Heart Lung and Circulation, 27, pp. 1368 - 1375, http://dx.doi.org/10.1016/j.hlc.2017.08.018
    Journal articles | 2018
    Szot JO; Cuny H; Blue GM; Humphreys DT; Ip E; Harrison K; Sholler GF; Giannoulatou E; Leo P; Duncan EL; Sparrow DB; Ho JWK; Graham RM; Pachter N; Chapman G; Winlaw DS; Dunwoodie SL, 2018, 'A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data', Circulation. Genomic and precision medicine, 11, pp. e001978, http://dx.doi.org/10.1161/CIRCGEN.117.001978
    Journal articles | 2017
    Blue GM; Kirk EP; Giannoulatou E; Sholler GF; Dunwoodie SL; Harvey RP; Winlaw DS, 2017, 'Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide', Journal of the American College of Cardiology, 69, pp. 859 - 870, http://dx.doi.org/10.1016/j.jacc.2016.11.060
    Journal articles | 2017
    Cosgrove D; Harold D; Mothersill O; Anney R; Hill MJ; Bray NJ; Blokland G; Petryshen T; Wellcome Trust Case Control Consortium ; Richards A; Mantripragada K; Owen M; O'Donovan MC; Gill M; Corvin A; Morris DW; Donohoe G, 2017, 'MiR-137-derived polygenic risk: effects on cognitive performance in patients with schizophrenia and controls.', Transl Psychiatry, 7, pp. e1012, http://dx.doi.org/10.1038/tp.2016.286
    Journal articles | 2017
    Giannoulatou E; Maher GJ; Ding Z; Gillis AJM; Dorssers LCJ; Hoischen A; Meyts ERD; McVean G; Wilkie AOM; Looijenga LHJ; Goriely A, 2017, 'Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline', PLoS ONE, 12, pp. e0178169, http://dx.doi.org/10.1371/journal.pone.0178169
    Journal articles | 2017
    Hancock G; Morón-López S; Kopycinski J; Puertas MC; Giannoulatou E; Rose A; Salgado M; Hayton EJ; Crook A; Morgan C; Angus B; Chen F; Yang H; Martinez-Picado J; Hanke T; Dorrell L, 2017, 'Evaluation of the immunogenicity and impact on the latent HIV-1 reservoir of a conserved region vaccine, MVA.HIVconsv, in antiretroviral therapy-treated subjects:', Journal of the International AIDS Society, 20, pp. 21171, http://dx.doi.org/10.7448/IAS.20.1.21171
    Journal articles | 2017
    Kotoula V; Giannoulatou E; Papadopoulou K; Tikas I; Manousou K; Bobos M; Lakis S; Lazaridis G; Efstratiou I; Zagouri F; Pentheroudakis G; Gogas H; Christodoulou C; Koutras A; Psyrri A; Papandreou C; Papakostas P; Bafaloukos D; Pectasides D; Fountzilas G, 2017, 'Intrinsic tumor features underlying clinical subtype discordance in early breast cancer', Annals of Oncology, 28, pp. v55 - v56, http://dx.doi.org/10.1093/annonc/mdx362.033
    Journal articles | 2017
    Lau EMT; Giannoulatou E; Celermajer DS; Humbert M, 2017, 'Epidemiology and treatment of pulmonary arterial hypertension', Nature Reviews Cardiology, 14, pp. 603 - 614, http://dx.doi.org/10.1038/nrcardio.2017.84
    Journal articles | 2017
    Lewis A; Felice C; Kumagai T; Lai C; Singh K; Jeffery RR; Feakins R; Giannoulatou E; Armuzzi A; Jawad N; Lindsay JO; Silver A, 2017, 'The miR-200 family is increased in dysplastic lesions in ulcerative colitis patients', PLoS ONE, 12, pp. e0173664, http://dx.doi.org/10.1371/journal.pone.0173664
    Journal articles | 2017
    McCormick H; Young PE; Hur SSJ; Booher K; Chung H; Cropley JE; Giannoulatou E; Suter CM, 2017, 'Isogenic mice exhibit sexually-dimorphic DNA methylation patterns across multiple tissues', BMC Genomics, 18, pp. 966, http://dx.doi.org/10.1186/s12864-017-4350-x
    Journal articles | 2017
    Munro JE; Dunwoodie SL; Giannoulatou E, 2017, 'SVPV: A structural variant prediction viewer for paired-end sequencing datasets', Bioinformatics, 33, pp. 2032 - 2033, http://dx.doi.org/10.1093/bioinformatics/btx117
    Journal articles | 2017
    Shi H; Enriquez A; Rapadas M; Martin EMMA; Wang R; Moreau J; Lim CK; Szot JO; Ip E; Hughes JN; Sugimoto K; Humphreys DT; McInerney-Leo AM; Leo PJ; Maghzal GJ; Halliday J; Smith J; Colley A; Mark PR; Collins F; Sillence DO; Winlaw DS; Ho JWK; Guillemin GJ; Brown MA; Kikuchi K; Thomas PQ; Stocker R; Giannoulatou E; Chapman G; Duncan EL; Sparrow DB; Dunwoodie SL, 2017, 'NAD deficiency, congenital malformations, and niacin supplementation', New England Journal of Medicine, 377, pp. 544 - 552, http://dx.doi.org/10.1056/NEJMoa1616361
    Journal articles | 2017
    Wang XW; Wang JJ; Gutowska-Owsiak D; Salimi M; Selvakumar TA; Gwela A; Chen LY; Wang YJ; Giannoulatou E; Ogg G, 2017, 'Deficiency of filaggrin regulates endogenous cysteine protease activity, leading to impaired skin barrier function', Clinical and Experimental Dermatology, 42, pp. 622 - 631, http://dx.doi.org/10.1111/ced.13113
    Journal articles | 2016
    Al-Zyoud WA; Hynson RMG; Ganuelas LA; Coster ACF; Duff AP; Baker MAB; Stewart AG; Giannoulatou E; Ho JWK; Gaus K; Liu D; Lee LK; Böcking T; Baker M, 2016, 'Binding of transcription factor GabR to DNA requires recognition of DNA shape at a location distinct from its cognate binding site', Nucleic Acids Research, 44, pp. 1411 - 1420, http://dx.doi.org/10.1093/nar/gkv1466
    Journal articles | 2016
    Bodea CA; Neale BM; Ripke S; Barclay M; Peyrin-Biroulet L; Chamaillard M; Colombel JF; Cottone M; Croft A; D'Incà R; Halfvarson J; Hanigan K; Henderson P; Hugot JP; Karban A; Kennedy NA; Khan MA; Lémann M; Levine A; Massey D; Milla M; Montgomery GW; Ng SME; Oikonomou I; Peeters H; Proctor DD; Rahier JF; Roberts R; Rutgeerts P; Seibold F; Stronati L; Taylor KM; Törkvist L; Ublick K; Van Limbergen J; Van Gossum A; Vatn MH; Zhang H; Zhang W; Andrews JM; Bampton PA; Florin TH; Gearry R; Krishnaprasad K; Lawrance IC; Mahy G; Radford-Smith G; Simms LA; Amininijad L; Cleynen I; Dewit O; Franchimont D; Georges M; Laukens D; Theatre E; Vermeire S; Aumais G; Baidoo L; Barrie AM; Beck K; Bernard EJ; Binion DG; Bitton A; Brant SR; Cho JH; Cohen A; Croitoru K; Datta LW; Deslandres C; Duerr RH; Dutridge D; Ferguson J; Fultz J; Goyette P; Greenberg GR; Haritunians T; Jobin G; Katz S; Lahaie RG; McGovern DP; Nelson L; Ning K; Paré P; Regueiro MD; Rioux JD; Ruggiero E; Schumm LP; Schwartz M; Scott R; Sharma Y; Silverberg MS; Spears D; Steinhart AH; Stempak JM; Swoger JM; Tsagarelis C; Zhang C; Zhao H, 2016, 'A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies', American Journal of Human Genetics, 98, pp. 857 - 868, http://dx.doi.org/10.1016/j.ajhg.2016.02.025
    Journal articles | 2016
    Cropley J; Eaton S; Aiken A; Young P; Giannoulatou E; Ho JWK; Buckland M; Keam S; Hutvagner G; Humphreys D; Langley K; Henstridge D; Martin D; Febbraio M; Suter C, 2016, 'Grand paternal inheritance of an acquired metabolic trait induced by ancestral obesity is associated with sperm RNA', , http://dx.doi.org/10.1101/042101
    Journal articles | 2016
    Cropley JE; Eaton SA; Aiken A; Young PE; Giannoulatou E; Ho JWK; Buckland ME; Keam SP; Hutvagner G; Humphreys DT; Langley KG; Henstridge DC; Martin DIK; Febbraio MA; Suter CM, 2016, 'Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity', Molecular Metabolism, 5, pp. 699 - 708, http://dx.doi.org/10.1016/j.molmet.2016.06.008
    Journal articles | 2016
    Fountzila E; Kotoula V; Zagouri F; Giannoulatou E; Kouvatseas G; Pentheroudakis G; Koletsa T; Bobos M; Papadopoulou K; Samantas E; Demiri E; Miliaras S; Christodoulou C; Chrisafi S; Razis E; Fostira F; Pectasides D; Zografos G; Fountzilas G, 2016, 'Patient-private disease evolution and heterogeneity in bilateral breast cancer', Annals of Oncology, 27, pp. vi54, http://dx.doi.org/10.1093/annonc/mdw364.38
    Journal articles | 2016
    Fountzilas E; Kotoula V; Zagouri F; Giannoulatou E; Kouvatseas G; Pentheroudakis G; Koletsa T; Bobos M; Papadopoulou K; Samantas E; Demiri E; Miliaras S; Christodoulou C; Chrisafi S; Razis E; Fostira F; Pectasides D; Zografos G; Fountzilas G, 2016, 'Disease evolution and heterogeneity in bilateral breast cancer', American Journal of Cancer Research, 6, pp. 2611 - 2630
    Journal articles | 2016
    Fountzilas G; Giannoulatou E; Alexopoulou Z; Zagouri F; Timotheadou E; Papadopoulou K; Lakis S; Bobos M; Poulios C; Sotiropoulou M; Lyberopoulou A; Gogas H; Pentheroudakis G; Pectasides D; Koutras A; Christodoulou C; Papandreou C; Samantas E; Papakostas P; Kosmidis P; Bafaloukos D; Karanikiotis C; Dimopoulos MA; Kotoula V, 2016, 'TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting', Oncotarget, 7, pp. 32731 - 32753, http://dx.doi.org/10.18632/oncotarget.9022
    Journal articles | 2016
    Fountzilas G; Psyrri A; Giannoulatou E; Kouvatseas G; Rontogianni D; Ciuleanu E; Ciuleanu TE; Resiga L; Zaramboukas T; Bobos M; Chrisafi S; Tsolaki E; Papadopoulou K; Markou K; Charalambakis N; Koutras A; Kalogera-Fountzila A; Skondra M; Pectasides D; Kotoula V, 2016, 'Mutation profiles of nasopharyngeal carcinomas in South-Eastern European patients', Annals of Oncology, 27, pp. vi333, http://dx.doi.org/10.1093/annonc/mdw376.18
    Journal articles | 2016
    Kotoula V; Karavasilis V; Zagouri F; Kouvatseas G; Giannoulatou E; Gogas H; Lakis S; Pentheroudakis G; Bobos M; Papadopoulou K; Tsolaki E; Pectasides D; Lazaridis G; Koutras A; Aravantinos G; Christodoulou C; Papakostas P; Markopoulos C; Zografos G; Papandreou C; Fountzilas G, 2016, 'Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes', Breast Cancer Research and Treatment, 158, pp. 307 - 321, http://dx.doi.org/10.1007/s10549-016-3883-z
    Journal articles | 2016
    Kotoula V; Lakis S; Giannoulatou E; Kouvatseas G; Lazaridis G; Tikas I; Efstratiou I; Chrisafi S; Charalambous E; Papanikolaou A; Fostira F; Tarlatzis B; Fountzilas G, 2016, 'Impact of genomic heterogeneity and mutation patterns on the outcome of patients with epithelial ovarian cancer (EOC)', Annals of Oncology, 27, pp. vi301, http://dx.doi.org/10.1093/annonc/mdw374.22
    Journal articles | 2016
    Kotoula V; Razis E; Giannoulatou E; Vrettou E; Charalambous E; Kouvatseas G; Tikas I; Papadopoulos S; Papaemmanoyil S; Rigakos G; Zaramboukas T; Romanidou O; Iliadis G; Nomikos P; Selviaridis P; Polyzoidis K; Fountzilas G, 2016, 'MPTH-32. MUTATION CHARACTERISTICS IN HIGH-GRADE GLIOMAS', Neuro-Oncology, 18, pp. vi112 - vi113, http://dx.doi.org/10.1093/neuonc/now212.469
    Journal articles | 2016
    Maher GJ; McGowan SJ; Giannoulatou E; Verrill C; Goriely A; Wilkie AOM, 2016, 'Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes', Proceedings of the National Academy of Sciences of the United States of America, 113, pp. 2454 - 2459, http://dx.doi.org/10.1073/pnas.1521325113
    Journal articles | 2016
    Pentheroudakis G; Kotoula V; Kourvelos V; Charalambous E; Karavasilis V; Giannoulatou E; Tsoulfas G; Pazarli E; Glantzounis G; Papakostas P; Samantas E; Pectasides D; Fountzilas G, 2016, 'Mutational profiles in paired primary tumours and metastases in colorectal cancer patients: an NGS study of the Hellenic Cooperative Oncology Group', Annals of Oncology, 27, pp. vi172, http://dx.doi.org/10.1093/annonc/mdw370.71
    Journal articles | 2016
    Rautanen A; Pirinen M; Mills TC; Rockett KA; Strange A; Ndungu AW; Naranbhai V; Gilchrist JJ; Bellenguez C; Freeman C; Band G; Bumpstead SJ; Edkins S; Giannoulatou E; Gray E; Dronov S; Hunt SE; Langford C; Pearson RD; Su Z; Vukcevic D; Macharia AW; Uyoga S; Ndila C; Mturi N; Njuguna P; Mohammed S; Berkley JA; Mwangi I; Mwarumba S; Kitsao BS; Lowe BS; Morpeth SC; Khandwalla I; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Duncanson A; Jankowski J; Markus HS; Mathew CG; Palmer CNA; Plomin R; Sawcer SJ; Trembath RC; Viswanathan AC; Wood NW; Deloukas P; Peltonen L; Williams TN; Scott JAG; Chapman SJ; Donnelly P; Hill AVS; Spencer CCA, 2016, 'Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children', American Journal of Human Genetics, 98, pp. 1092 - 1100, http://dx.doi.org/10.1016/j.ajhg.2016.03.025
    Journal articles | 2016
    Robinson PC; Leo PJ; Pointon JJ; Harris J; Cremin K; Bradbury LA; Donnelly P; Barroso I; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Deloukas P; Duncanson A; Jankowski J; Markus HS; Mathew CG; Palmer CNA; Plomin R; Rautanen A; Sawcer SJ; Trembath RC; Viswanathan AC; Wood NW; Spencer CCA; Band G; Bellenguez C; Freeman C; Hellenthal G; Giannoulatou E; Pirinen M; Pearson R; Strange A; Su Z; Vukcevic D; Langford C; Hunt SE; Edkins S; Gwilliam R; Blackburn H; Bumpstead SJ; Dronov S; Gillman M; Gray E; Hammond N; Jayakumar A; McCann OT; Liddle J; Potter SC; Ravindrarajah R; Ricketts M; Waller M; Weston P; Widaa S; Whittaker P; Mathew CG; Brown MA; McCloskey E; Eisman J; Jones G; Nicholson G; Eastell R; Sambrook P; Prince R; Dennison E; Reid I; Wark J; Stebbings S; Harrison AA; Evans DM; Duncan EL; Wordsworth BP, 2016, 'The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis', Genes and Immunity, 17, pp. 46 - 51, http://dx.doi.org/10.1038/gene.2015.49
    Journal articles | 2016
    Robinson PC; Leo PJ; Pointon JJ; Harris J; Cremin K; Bradbury LA; Stebbings S; Harrison AA; Duncan EL; Evans DM; Wordsworth PB; Brown MA; Donnelly P; Barroso I; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Deloukas P; Duncanson A; Jankowski J; Markus HS; Mathew CG; Palmer CN; Plomin R; Rautanen A; Sawcer SJ; Trembath RC; Viswanathan AC; Wood NW; Spencer CC; Band G; Bellenguez C; Freeman C; Hellenthal G; Giannoulatou E; Pirinen M; Pearson R; Strange A; Su Z; Vukcevic D; Donnelly P; Langford C; Hunt SE; Edkins S; Gwilliam R; Blackburn H; Bumpstead SJ; Dronov S; Gillman M; Gray E; Hammond N; Jayakumar A; McCann OT; Liddle J; Potter SC; Ravindrarajah R; Ricketts M; Waller M; Weston P; Widaa S; Whittaker P; Barroso I; Deloukas P; Mathew CG; Blackwell JM; Brown MA; Corvin A; Spencer CCA; McCloskey E; Eisman J; Jones G; Nicholson G; Eastell R; Sambrook P; Prince R; Dennison E; Reid I; Wark J, 2016, 'Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease', NPJ GENOMIC MEDICINE, 3, http://dx.doi.org/10.1038/npjgenmed.2016.8
    Journal articles | 2016
    Walton SJ; Lewis A; Jeffery R; Thompson H; Feakins R; Giannoulatou E; Yau C; Lindsay JO; Clark SK; Silver A, 2016, 'Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours', Oncoscience, 3, pp. 173 - 185, http://dx.doi.org/10.18632/oncoscience.312
    Journal articles | 2016
    Kotoula V; Lakis S; Vlachos IS; Giannoulatou E; Zagouri F; Alexopoulou Z; Gogas H; Pectasides D; Aravantinos G; Efstratiou I, 2016, 'Tumor infiltrating lymphocytes affect the outcome of patients with operable triple-negative breast cancer in combination with mutated amino acid classes', , http://dx.doi.org/10.1371/journal.pone.0163138
    Journal articles | 2015
    Darton TC; Blohmke CJ; Giannoulatou E; Waddington CS; Jones C; Sturges P; Webster C; Drakesmith H; Pollard AJ; Armitage AE, 2015, 'Rapidly Escalating Hepcidin and Associated Serum Iron Starvation Are Features of the Acute Response to Typhoid Infection in Humans', PLoS Neglected Tropical Diseases, 9, http://dx.doi.org/10.1371/journal.pntd.0004029
    Journal articles | 2015
    Djordjevic D; Deshpande V; Szczesnik T; Yang A; Humphreys DT; Giannoulatou E; Ho JWK, 2015, 'Decoding the complex genetic causes of heart diseases using systems biology', Biophysical Reviews, 7, pp. 141 - 159
    Journal articles | 2015
    Kamali AH; Giannoulatou E; Chen TY; Charleston MA; McEwan AL; Ho JWK, 2015, 'How to test bioinformatics software?', Biophysical Reviews, 7, pp. 343 - 352, http://dx.doi.org/10.1007/s12551-015-0177-3
    Journal articles | 2015
    Woll PS; Kjaellquist U; Chowdhury O; Doolittle H; Wedge DC; Thongjuea S; Erlandsson R; Ngara M; Anderson K; Deng Q; Mead AJ; Stenson L; Giustacchini A; Duarte S; Giannoulatou E; Taylor S; Karimi M; Scharenberg C; Mortera-Blanco T; Macaulay IC; Clark S-A; Dybedal I; Josefsen D; Fenaux P; Hokland P; Holm MS; Cazzola M; Malcovati L; Tauro S; Bowen D; Boultwood J; Pellagatti A; Pimanda JE; Unnikrishnan A; Vyas P; Goehring G; Schlegelberger B; Tobiasson M; Kvalheim G; Constantinescu SN; Nerlov C; Nilsson L; Campbell PJ; Sandberg R; Papaemmanuil E; Hellstroem-Lindberg E; Linnarsson S; Jacobsen SEW, 2015, 'Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo (vol 25, pg 794, 2014)', CANCER CELL, 27, pp. 603 - 605, http://dx.doi.org/10.1016/j.ccell.2015.03.003
    Journal articles | 2015
    Woll PS; Kjällquist U; Chowdhury O; Doolittle H; Wedge DC; Thongjuea S; Erlandsson R; Ngara M; Anderson K; Deng Q; Mead AJ; Stenson L; Giustacchini A; Duarte S; Giannoulatou E; Taylor S; Karimi M; Scharenberg C; Mortera-Blanco T; Macaulay IC; Clark SA; Dybedal I; Josefsen D; Fenaux P; Hokland P; Holm MS; Cazzola M; Malcovati L; Tauro S; Bowen D; Boultwood J; Pellagatti A; Pimanda JE; Unnikrishnan A; Vyas P; Göhring G; Schlegelberger B; Tobiasson M; Kvalheim G; Constantinescu SN; Nerlov C; Nilsson L; Campbell PJ; Sandberg R; Papaemmanuil E; Hellström-Lindberg E; Linnarsson S; Jacobsen SEW, 2015, 'Erratum to Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo, [Cancer Cell, 25, 2014, 794-808]', Cancer Cell, 27, pp. 603 - 605, http://dx.doi.org/10.1016/j.ccell.2015.03.003
    Journal articles | 2014
    Armitage AE; Stacey AR; Giannoulatou E; Marshall E; Sturges P; Chatha K; Smith NMG; Huang XJ; Xu XN; Pasricha SR; Lie N; Wu H; Webster C; Prentice AM; Pellegrino P; Williams I; Norris PJ; Drakesmith H; Borrow P, 2014, 'Distinct patterns of hepcidin and iron regulation during HIV-1, HBV, and HCV infections', Proceedings of the National Academy of Sciences of the United States of America, 111, pp. 12187 - 12192, http://dx.doi.org/10.1073/pnas.1402351111
    Journal articles | 2014
    Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JWK; Hilton DCK; White SM; Sholler GF; Harvey RP; Winlaw DS, 2014, 'Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease', Journal of the American College of Cardiology, 64, pp. 2498 - 2506, http://dx.doi.org/10.1016/j.jacc.2014.09.048
    Journal articles | 2014
    Giannoulatou E; Park S-H; Humphreys DT; Ho JWK, 2014, 'Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie', BMC bioinformatics, 15, pp. S15 - S15
    Journal articles | 2014
    Hughes JR; Roberts N; Mcgowan S; Hay D; Giannoulatou E; Lynch M; De Gobbi M; Taylor S; Gibbons R; Higgs DR, 2014, 'Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment', Nature Genetics, 46, pp. 205 - 212, http://dx.doi.org/10.1038/ng.2871
    Journal articles | 2014
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    Journal articles | 2014
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    Tsoi LC; Spain SL; Knight J; Ellinghaus E; Stuart PE; Capon F; Ding J; Li Y; Tejasvi T; Gudjonsson JE; Kang HM; Allen MH; McManus R; Novelli G; Samuelsson L; Schalkwijk J; Ståhle M; Burden AD; Smith CH; Cork MJ; Estivill X; Bowcock AM; Krueger GG; Weger W; Worthington J; Tazi-Ahnini R; Nestle FO; Hayday A; Hoffmann P; Winkelmann J; Wijmenga C; Langford C; Edkins S; Andrews R; Blackburn H; Strange A; Band G; Pearson RD; Vukcevic D; Spencer CCA; Deloukas P; Mrowietz U; Schreiber S; Weidinger S; Koks S; Kingo K; Esko T; Metspalu A; Lim HW; Voorhees JJ; Weichenthal M; Wichmann HE; Chandran V; Rosen CF; Rahman P; Gladman DD; Griffiths CEM; Reis A; Kere J; Nnair RP; Franke A; Barker JN; Abecasis GR; Eelder JT; Ttrembath R; Duffin KC; Helms C; Goldgar D; Paschall J; Malloy MJ; Pullinger CR; Kane JP; Gardner J; Perlmutter A; Miner A; Feng BJ; Hiremagalore R; Ike RW; Christophers E; Henseler T; Ruether A; Schrodi SJ; Prahalad S; Guthery SL; Fischer J; Liao W; Kwok P; Menter A; Lathrop GM; Wise C; Begovich AB; Onoufriadis A; Weale ME; Hofer A; Salmhofer W; Wolf P; Kainu K; Saarialho-Kere U; Suomela S; Badorf P, 2012, 'Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity', Nature Genetics, 44, pp. 1341 - 1348, http://dx.doi.org/10.1038/ng.2467
    Journal articles | 2011
    Sawcer S; Hellenthal G; Pirinen M; Spencer CCA; Patsopoulos NA; Moutsianas L; Dilthey A; Su Z; Freeman C; Hunt SE; Edkins S; Gray E; Booth DR; Potter SC; Goris A; Band G; Oturai AB; Strange A; Saarela J; Bellenguez C; Fontaine B; Gillman M; Hemmer B; Gwilliam R; Zipp F; Jayakumar A; Martin R; Leslie S; Hawkins S; Giannoulatou E; D'Alfonso S; Blackburn H; Boneschi FM; Liddle J; Harbo HF; Perez ML; Spurkland A; Waller MJ; Mycko MP; Ricketts M; Comabella M; Hammond N; Kockum I; McCann OT; Ban M; Whittaker P; Kemppinen A; Weston P; Hawkins C; Widaa S; Zajicek J; Dronov S; Robertson N; Bumpstead SJ; Barcellos LF; Ravindrarajah R; Abraham R; Alfredsson L; Ardlie K; Aubin C; Baker A; Baker K; Baranzini SE; Bergamaschi L; Bergamaschi R; Bernstein A; Berthele A; Boggild M; Bradfield JP; Brassat D; Broadley SA; Buck D; Butzkueven H; Capra R; Carroll WM; Cavalla P; Celius EG; Cepok S; Chiavacci R; Clerget-Darpoux F; Clysters K; Comi G; Cossburn M; Cournu-Rebeix I; Cox MB; Cozen W; Cree BAC; Cross AH; Cusi D; Daly MJ; Davis E; De Bakker PIW; Debouverie M; D'Hooghe MB; Dixon K; Dobosi R; Dubois B; Ellinghaus D; Elovaara I; Esposito F, 2011, 'Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis', Nature, 476, pp. 214 - 219, http://dx.doi.org/10.1038/nature10251
    Journal articles | 2010
    Craddock N; Hurles ME; Cardin N; Pearson RD; Plagnol V; Robson S; Vukcevic D; Barnes C; Conrad DF; Giannoulatou E; Holmes C; Marchini JL; Stirrups K; Tobin MD; Wain LV; Yau C; Aerts J; Ahmad T; Andrews TD; Arbury H; Attwood A; Auton A; Ball SG; Balmforth AJ; Barrett JC; Barroso I; Barton A; Bennett AJ; Bhaskar S; Blaszczyk K; Bowes J; Brand OJ; Braund PS; Bredin F; Breen G; Brown MJ; Bruce IN; Bull J; Burren OS; Burton J; Byrnes J; Caesar S; Clee CM; Coffey AJ; Connell JMC; Cooper JD; Dominiczak AF; Downes K; Drummond HE; Dudakia D; Dunham A; Ebbs B; Eccles D; Edkins S; Edwards C; Elliot A; Emery P; Evans DM; Evans G; Eyre S; Farmer A; Ferrier IN; Feuk L; Fitzgerald T; Flynn E; Forbes A; Forty L; Franklyn JA; Freathy RM; Gibbs P; Gilbert P; Gokumen O; Gordon-Smith K; Gray E; Green E; Groves CJ; Grozeva D; Gwilliam R; Hall A; Hammond N; Hardy M; Harrison P; Hassanali N; Hebaishi H; Hines S; Hinks A; Hitman GA; Hocking L; Howard E; Howard P; Howson JMM; Hughes D; Hunt S; Isaacs JD; Jain M; Jewell DP; Johnson T; Jolley JD; Jones IR; Jones LA, 2010, 'Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls', Nature, 464, pp. 713 - 720, http://dx.doi.org/10.1038/nature08979
    Journal articles | 2008
    Giannoulatou E; Yau C; Colella S; Ragoussis J; Holmes CC, 2008, 'GenoSNP: A variational Bayes within-sample SNP genotyping algorithm that does not require a reference population', Bioinformatics, 24, pp. 2209 - 2214, http://dx.doi.org/10.1093/bioinformatics/btn386
  • Preprints | 2024
    Gudkov M; Thibaut L; Giannoulatou E, 2024, Improving estimates of negative selection in human genome using CAPS, http://dx.doi.org/10.1101/2024.01.23.576817
    Preprints | 2024
    Shah A; Monger S; Troup M; Ip EKK; Giannoulatou E, 2024, Systematic evaluation ofde novomutation calling tools using whole genome sequencing data, http://dx.doi.org/10.1101/2024.08.28.610208
    Conference Papers | 2023
    Ballinger ML; Pattnaik S; Mundra PA; Zaheed M; Rath E; Priestley P; Baber J; Ray-Coquard I; Isambert N; Causeret S; van der Graaf WTA; Puri A; Duffaud F; Le Cesne A; Seddon B; Chandrasekar C; Schiffman JD; Brohl AS; James PA; Kurtz JE; Penel N; Myklebost O; Meza-Zepeda LA; Pickett H; Kansara M; Waddell N; Kondrashova O; Pearson JV; Barbour AP; Li S; Nguyen TL; Fatkin D; Graham RM; Giannoulatou E; Green MJ; Kaplan W; Ravishankar S; Copty J; Powell JE; Cuppen E; van Eijk K; Veldink J; Ahn JH; Kim JE; Lor Randall R; Tucker K; Judson I; Sarin R; Ludwig T; Genin E; Deleuze JF; Haber M; Marshall G; Cairns MJ; Blay JY; Thomas DM, 2023, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', in Science, pp. 253 - 260, http://dx.doi.org/10.1126/science.abj4784
    Preprints | 2023
    Humphreys DT; Lewis A; Pan-Castillo B; Berti G; Mein C; Wozniak E; Gordon H; Gadhok R; Minicozzi A; ChinAleong J; Feakins R; Giannoulatou E; James LK; Stagg AJ; Lindsay JO; Silver A, 2023, Single cell sequencing data identify distinct B cell and fibroblast populations in stricturing Crohn’s disease, , http://dx.doi.org/10.1101/2023.09.04.556163
    Conference Abstracts | 2022
    Adiam D; Berrandou TE; Georges A; Nelson CP; Giannoulatou E; Ma L; Blencowe M; Turley T; Yang M-L; Iismaa S; Tarr I; Muller D; Hesselson S; Junday K; Fatkin D; Combaret N; Saw J; Webb T, 2022, 'GWAS Meta-Analysis in SCAD, a Women Predominant Ischemic Heart Disease, Reveals Common Variants and Genes Related to Artery Integrity and Tissue-Mediated Coagulation', in Circulation, Lippincott, Williams & Wilkins, IL, Chicago, Vol. 146, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, IL, Chicago, 05 November 2022 - 06 November 2022, https://www.ahajournals.org/doi/10.1161/circ.146.suppl_1.12681
    Preprints | 2022
    Adlam D; Berrandou T-E; Georges A; Nelson CP; Giannoulatou E; Henry J; Ma L; Blencowe M; Turley TN; Yang M-L; Braund PS; Sadeg-Sayoud I; Iismaa SE; Kosel ML; Zhou X; Hamby SE; Cheng J; Liu L; Tarr I; Muller DWM; d’Escamard V; King A; Brunham LR; Baranowska-Clarke AA; Debette S; Amouyel P; Olin JW; Patil S; Hesselson SE; Junday K; Kanoni S; Aragam K; Butterworth AS; Tweet MS; Gulati R; Combaret N; Kadian-Dodov D; Kalman J; Fatkin D; Saw J; Webb TR; Hayes SN; Yang X; Ganesh SK; Olson TM; Kovacic JC; Graham RM; Samani NJ; Bouatia-Naji N, 2022, Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation, http://dx.doi.org/10.1101/2022.07.05.22277238
    Preprints | 2022
    Bernkopf M; Abdullah UB; Bush SJ; Wood K; Ghaffari S; Giannoulatou E; Koelling N; Maher GJ; Thibault LM; Williams J; Blair EM; Kelly FB; Bloss A; Burkitt-Wright E; Canham N; Deng AT; Dixit A; Eason J; Elmslie F; Gardham A; Hay E; Holder M; Homfray T; Hurst JA; Johnson D; Jones WD; Kini U; Kivuva E; Kumar A; Lees MM; Leitch HG; Morton JEV; Németh AH; Ramachandrappa S; Saunders K; Shears DJ; Side L; Splitt M; Stewart A; Stewart H; Suri M; Clouston P; Davies RW; Wilkie AOM; Goriely A, 2022, The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation, , http://dx.doi.org/10.1101/2022.07.26.501520
    Conference Abstracts | 2022
    Thomas DM, 2022, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', in CANCER SCIENCE, WILEY, Vol. 113, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000778583800159&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2021
    Dai P; Hollway G; Ohnesorg T; Hobbs M; Reeves J; Gray P; Wong M; Copty J; Enthoven K; Kummerfeld S; Monger S; Giannoulatou E; Lin M-W; Young M-A; Tangye S; Burnett L; Tri GP, 2021, 'RE-ANALYSIS OF WHOLE GENOME SEQUENCING DATA IN PATIENTS WITH UNDIAGNOSED INBORN ERRORS OF IMMUNITY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 51, pp. 23 - 23, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713717300054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Presentations | 2021
    Gudkov M; Thibaut L; Giannoulatou E, 2021, 'Quantifying negative selection on synonymous variants', presented at ABACBS/COMBINE, Virtual, 23 November 2021
    Conference Abstracts | 2021
    Tarr I; Hesselson S; Iismaa S; Troup M; Young P; Mishra K; Wong C; Junday K; Humphreys D; Dunwoodie S; Fatkin D; Muller D; Graham RM; Giannoulatou E, 2021, 'Abstract 11949: Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', in Circulation, Ovid Technologies (Wolters Kluwer Health), Vol. 144, http://dx.doi.org/10.1161/circ.144.suppl_1.11949
    Conference Papers | 2021
    Tarr I; Hesselson S; Iismaa S; Troup M; Young P; Mishra K; Wong C; Junday K; Humphreys D; Dunwoodie S; Fatkin D; Muller D; Graham RM; Giannoulatou E, 2021, 'Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000752020004372&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2019
    Blue GM; Ip E; Sholler GF; Harvey RP; Giannoulatou E; Dunwoodie SL; Winlaw DS, 2019, 'Whole Genome Sequencing Provides Insight Into the Genetic Composition Underlying CHD Severity', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, PA, Philadelphia, presented at Scientific Sessions of the American-Heart-Association, PA, Philadelphia, 16 November 2019 - 18 November 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000529998004425&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2019
    Kotoula V; Fountzilas E; Koliou G-A; Papadopoulou K; Giannoulatou E; Tikas I; Zagouri F; Christodoulou C; Pentheroudakis G; Koutras A; Pectasides D; Fountzilas G, 2019, 'Abstract 486: Pathogenic drivers and their comutations in genes frequently altered in cancer', in Cancer Research, American Association for Cancer Research (AACR), pp. 486 - 486, http://dx.doi.org/10.1158/1538-7445.am2019-486
    Conference Papers | 2019
    Kotoula V; Fountzilas E; Koliou G-A; Papadopoulou K; Giannoulatou E; Tikas I; Zagouri F; Christodoulou C; Pentheroudakis G; Koutras A; Pectasides D; Fountzilas G, 2019, 'Abstract 486: Pathogenic drivers and their comutations in genes frequently altered in cancer', in Clinical Research (Excluding Clinical Trials), American Association for Cancer Research, presented at Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA, http://dx.doi.org/10.1158/1538-7445.sabcs18-486
    Conference Abstracts | 2019
    Lewis A; Nijhuis A; Berti G; Felice C; Jeffrey R; Iqbal S; Pomeranc AB; Aldelemi S; Mehta S; Giannoulatou E; Feakins R; Armuzzi A; Lindsay JO; Silver A, 2019, 'Drugs that modulate histone acetylation disrupt TGF-beta-signalling and reduce collagen I expression in models of stricturing Crohn's disease', in JOURNAL OF CROHNS & COLITIS, OXFORD UNIV PRESS, Vol. 13, pp. S38 - S38, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000460544500056&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    McGrath-Cadell L; Hesselson S; Iismaa SE; Mishra K; Wong CMY; Fatkin D; Dunwoodie SL; Harvey R; Holloway CJ; Muller DWM; Giannoulatou E; Graham RM, 2019, 'Familial clustering of spontaneous coronary artery dissection', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, FRANCE, Paris, Vol. 40, pp. 3414 - 3414, presented at Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, FRANCE, Paris, 31 August 2019 - 04 September 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000507313003083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2018
    Fountzila E; Kotoula V; Koliou GA; Giannoulatou E; Gogas H; Papadimitriou C; Tikas IS; Papadopoulou K; Zagouri F; Christodoulou C; Koutras A; Razis E; Papakostas P; Samantas E; Aravantinos G; Psyrri A; Pectasides DG; Futreal A; Tsimberidou AM; Fountzilas G, 2018, 'Actionable mutations and overall survival in 3,211 patients with cancer: The Hellenic cooperative oncology group precision medicine initiative', in Annals of oncology : official journal of the European Society for Medical Oncology, pp. viii664, http://dx.doi.org/10.1093/annonc/mdy303.046
    Conference Abstracts | 2018
    Maher GJ; Ralph HK; Ding Z; Koelling N; Mlcochova H; Giannoulatou E; Dhami P; McVean G; Wilkie AOM; Goriely A, 2018, 'Assessing the landscape of selfish de novo mutations in human testes', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 825 - 825, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313106156&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Razis E; Kotoula V; Koliou G-A; Vrettou E; Giannoulatou E; Tikas IS; Labropoulos SV; Papadopoulou K; Rigakos G; Papaemmanoyil S; Romanidou O; Nomikos P; Iliadis G; Selviaridis P; Polyzoidis K; Fountzilas G, 2018, 'Evaluation of the significance of TERT mutations in the presence of NF1 mutations in high grade glioma', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, Vol. 36, http://dx.doi.org/10.1200/JCO.2018.36.15_suppl.e14058
    Conference Papers | 2017
    Al-Aghbari J; Giannoulatou E; Corrigan C; Strange G; Celemajer D; Wrobel J; Whyte K; Kotlyar E; Dwyer N; Feenstra J; Kermeen F; Williams T; Keogh AM; Lau E, 2017, 'OUTCOMES OF IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION IN THE ERA OF COMBINATION THERAPY: A REPORT FROM THE PHSANZ REGISTRY', in Respirology, Wiley, International Convention Centre, Sydney, Australia, pp. 77 - 78, presented at 22nd Congress of the Asian Pacific Society of Respirology, International Convention Centre, Sydney, Australia, 23 November 2017 - 26 November 2017, http://dx.doi.org/10.1111/resp.13206_184
    Conference Abstracts | 2017
    Al-Aghbari J; Giannoulatou E; Corrigan C; Strange G; Celermajer D; Wrobel J; Whyte K; Eugene K; Dwyer N; Feenstra J; Kermeen F; Williams T; Keogh A; Lau E, 2017, 'OUTCOMES OF IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION IN THE ERA OF COMBINATION THERAPY: A REPORT FROM THE PHSANZ REGISTRY', in RESPIROLOGY, WILEY, Vol. 22, pp. 77 - 77, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000415925700183&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2017
    Blue GM; Ip E; Walker K; Kirk EP; Loughran-Fowlds A; Sholler GF; Dunwoodie SL; Harvey RP; Giannoulatou E; Badawi N; Winlaw DS, 2017, 'Genetic Variants Explaining Neurodevelopmental Disorders in Patients With Congenital Heart Disease - Are We Ready for the Clinic?', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, CA, Anaheim, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, CA, Anaheim, 11 November 2017 - 15 November 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000437035905488&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2017
    International Multiple Sclerosis Genetics Consortium ; Patsopoulos NA; Baranzini SE; Santaniello A; Shoostari P; Cotsapas C; Wong G; Beecham AH; James T; Replogle J; Vlachos I; McCabe C; Pers T; Brandes A; White C; Keenan B; Cimpean M; Winn P; Panteliadis IP; Robbins A; Andlauer TFM; Zarzycki O; Dubois B; Goris A; Sondergaard B; Sellebjerg F; Sorensen S; Ullum H; Thoerner W; Saarela J; Rebeix C; Damotte V; Fontaine B; Noel G; Lathrop M; Vukusik S; Berthele A; Biberacher V; Buck D; Gasperi C; Graetz C; Grummel V; Hemmer B; Hoshi M; Knier B; Korn T; Lill CM; Luessi F; Mühlau M; Zipp F; Dardiotis E; Agliardi C; Amoroso A; Barizzone N; Benedetti MD; Bernardinelli L; Cavalla P; Clarelli F; Comi G; Cusi D; Esposito F; Ferrè L; Galimberti D; Guaschino C; Leone MA; Martinelli V; Moiola L; Salvetti M; Sorosina M; Vecchio D; Zauli A; Santoro S; Zuccalà M; Mescheriakova J; Duijn V; Bos SD; Celius EG; Spurkland A; Comabella M; Montalban X; Alfredsson L; Bomfim I; Gomez-Cabrero D; Hillert J; Jagodic M; Lindén M; Piehl F; Jelčić I; Martin R; Sospedra M; Baker A; Ban M; Hawkins C; Hysi P; Kalra S; Karpe F; Khadake J; Lachance G; Molyneux P; Neville M; Thorpe J; Bradshaw E; Caillier SJ; Calabresi P; Cree BAC; Cross A; Davis M; Bakker PWID; Delgado S; Dembele M; Edwards K; Fitzgerald K; Frohlich IY; Gourraud PA; Haines JL; Hakonarson H; Kimbrough D; Isobe N; Konidari I; Lathi E; Lee MH; Li T; An D; Zimmer A; Lo A; Madireddy L; Manrique CP; Mitrovic M; Olah M; Patrick E; Pericak-Vance MA; Piccio L; Schaefer C; Weiner H; Lage K; Compston A; Hafler D; Harbo HF; Hauser SL; Stewart G; D’Alfonso S; Hadjigeorgiou G; Taylor B; Barcellos LF; Booth D; Hintzen R; Kockum I; Martinelli-Boneschi F; McCauley JL; Oksenberg JR; Oturai A; Sawcer S; Ivinson AJ; Olsson T; Jager PLD; Barclay M; Peyrin-Biroulet L; Chamaillard M; Colombe J-F; Cottone M; Croft A; D’Incà R; Halfvarson J; Hanigan K; Henderson P; Hugot J-P; Karban A; Kennedy N; Khan MA; Lémann M; Levine A; Massey D; Milla M; Montgomery G; Evelyn Ng SM; Oikonomou I; Peeters H; Proctor D; Rahier J-F; Roberts R; Rutgeerts P; Seibold F; Stronati L; Taylor K; Törkvist L; Ublick K; Limbergen JV; Gossum AV; Vatn M; Zhang H; Zhang W; Australia and New Zealand IBDGC ; Belgium Genetic Consortium ; Initiative on Crohn and Colitis ; NIDDK IBDGC ; United Kingdom IBDGC ; Wellcome Trust Case Control Consortium , 2017, The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility, , http://dx.doi.org/10.1101/143933
    Conference Papers | 2017
    Kendrick Y; Crawshaw A; Lockstone H; Giannoulatou E; Argoud K; Taylor S; Ho LP, 2017, 'TRANSCRIPTOMIC STUDIES REVEAL MONOCYTE-RELATED GENES AS MAJOR CONTRIBUTOR TO DISEASE ACTIVITY IN PULMONARY SARCOIDOSIS', in THORAX, BMJ PUBLISHING GROUP, ENGLAND, London, pp. A48 - A49, presented at Winter Meeting of the British-Thoracic-Society, ENGLAND, London, 06 December 2017 - 08 December 2017, http://dx.doi.org/10.1136/thoraxjnl-2017-210983.83
    Conference Abstracts | 2017
    Kotoula V; Giannoulatou E; Papadopoulou K; Tikas I; Manousou K; Bobos M; Lakis S; Lazaridis G; Efstratiou I; Zagouri F; Pentheroudakis G; Gogas H; Christodoulou C; Koutras A; Psyrri A; Papandreou C; Papakostas P; Bafaloukos D; Pectasides D; Fountzilas G, 2017, 'Intrinsic tumor features underlying clinical subtype discordance in early breast cancer', in ANNALS OF ONCOLOGY, OXFORD UNIV PRESS, SPAIN, Madrid, Vol. 28, presented at 42nd European-Society-for-Medical-Oncology Congress (ESMO), SPAIN, Madrid, 08 September 2017 - 12 September 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000411324000110&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2017
    Ruderfer D; Ripke S; McQuillin A; Boocock J; Stahl E; Pavlides JW; Mullins N; Charney A; Ori A; Loohuis LO; Domenici E; Di Florio A; Papiol S; Kalman J; Adolfsson R; Agartz I; Agerbo E; Akil H; Albani D; Albus M; Alda M; Alexander M; Allardyce J; Alliey-Rodriguez N; Als T; Amin F; Anjorin A; Arranz M; Awasthi S; Bacanu S; Badner J; Baekvad-Hansen M; Bakker S; Band G; Barchas J; Barroso I; Bass N; Bauer M; Baune B; Begemann M; Bellenguez C; Belliveau R; Bellivier F; Bender S; Bene J; Bergen S; Berrettini W; Bevilacqua E; Biernacka J; Bigdeli T; Black D; Blackburn H; Blackwell J; Blackwood DHR; Pedersen CB; Boehnke M; Boks M; Borglum A; Bramon E; Breen G; Brown M; Bruggeman R; Buccola N; Buckner R; Budde M; Bulik-Sullivan B; Bumpstead S; Bunney W; Burmeister M; Buxbaum J; Bybjerg-Grauholm J; Byerley W; Cahn W; Cai G; Cairns M; Campion D; Cantor R; Carr V; Carrera N; Casas J; Casas M; Catts S; Cervantes P; Chambert K; Chan RCK; Chen EYH; Chen RYL; Cheng W; Cheung EFC; Chong SA; Clarke T-K; Cloninger R; Cohen D; Cohen N; Coleman J; Collier D; Cormican P; Coryell W; Craddock N; Craig D; Crespo-Facorro B; Crowley J; Cruceanu C; Curtis D; Czerski P; Dale A; Daly M; Dannlowski U; Darvasi A; Davidson M; Davis K; de Leeuw C; Degenhardt F; Favero JD; DeLisi L; Deloukas P; Demontis D; DePaulo R; di Forti M; Dikeos D; Dinan T; Djurovic S; Dobbyn A; Donnelly P; Donohoe G; Drapeau E; Dronov S; Duan J; Dudbridge F; Duncanson A; Edenberg H; Edkins S; Ehrenreich H; Eichhammer P; Elvsashagen T; Eriksson J; Escott-Price V; Esko T; Essioux L; Etain B; Fan CC; Farh K-H; Farrell M; Flickinger M; Foroud T; Forty L; Frank J; Franke L; Fraser C; Freedman R; Freeman C; Freimer N; Friedman J; Fromer M; Frye M; Fullerton J; Gade K; Garnham J; Gaspar H; Gejman P; Genovese G; Georgieva L; Giambartolomei C; Giannoulatou E; Giegling I; Gill M; Gillman M; Pedersen MG; Giusti-Rodriguez P; Godard S; Goes F; Goldstein J; Gopal S; Gordon S; Gordon-Smith K; Gratten J; Gray E; Green E; Green M; Greenwood T; Grigoroiu-Serbanescu M; Grove J; Guan W; Gurling H; Parra JG; Gwilliam R; de Haan L; Hall J; Hall M-H; Hammer C; Hammond N; Hamshere M; Hansen M; Hansen T; Haroutunian V; Hartmann A; Hauser J; Hautzinger M; Heilbronner U; Hellenthal G; Henskens F; Herms S; Hipolito M; Hirschhorn J; Hoffmann P; Hollegaard M; Hougaard D; Huang H; Huckins L; Hultman C; Hunt S; Ikeda M; Iwata N; Iyegbe C; Jablensky A; Jamain S; Jankowski J; Jayakumar A; Joa I; Jones I; Jones L; Jonsson E; Julia A; Jureus A; Kahler A; Kahn R; Kalaydjieva L; Kandaswamy R; Karachanak-Yankova S; Karjalainen J; Karlsson R; Kavanagh D; Keller M; Kelly B; Kelsoe J; Kennedy J; Kh A, 2017, Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes, http://dx.doi.org/10.1101/173435
    Conference Papers | 2016
    Kotoula V; Giannoulatou E; Alexopoulou Z; Karavasilis V; Kotsakis A; Dionysopoulos D; Christodoulou C; Tsolaki E; Bobos M; Charalambous E; Pentheroudakis GE; Makatsoris T; Chrisafi S; Pectasides DG; Psyrri A; Papakostas P; Razis E; Bafaloukos D; Georgoulias V; Fountzilas G, 2016, 'Tumor infiltrating lymphocytes and hydrophobic amino acid changes in HER2-positive metastatic breast cancer.', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, IL, Chicago, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 03 June 2016 - 07 June 2016, http://dx.doi.org/10.1200/JCO.2016.34.15_suppl.592
    Conference Abstracts | 2016
    Kotoula V; Giannoulatou E; Kouvatseas G; Tikas I; Lazaridis G; Charalambous E; Efstratiou I; Bobos M; Tsolaki E; Zagouri F; Christodoulou C; Pentheroudakis G; Koutras A; Papakostas P; Kosmidis PA; Pectasides D; Fountzilas G, 2016, 'Mutation characteristics and tumor infiltrating lymphocytes in early and metastatic HER2-positive breast cancer', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, TX, San Antonio, Vol. 77, presented at San Antonio Breast Cancer Symposium, TX, San Antonio, 06 December 2016 - 10 December 2016, http://dx.doi.org/10.1158/1538-7445.SABCS16-P6-09-07
    Conference Abstracts | 2016
    Kotoula V; Lakis S; Papadopoulou K; Vlachos I; Giannoulatou E; Alexopoulou Z; Timotheadou E; Efstratiou I; Zagouri F; Pentheroudakis G; Gogas H; Miliaras S; Sotiropoulou M; Zografos G; Pectasides D; Fountzilas G, 2016, 'A role for mutated hydrophobic amino acids in patients with triple-negative breast cancer', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, LA, New Orleans, Vol. 76, presented at AACR 107th Annual Meeting on Bioinformatics and Systems Biology, LA, New Orleans, 16 April 2016 - 20 April 2016, http://dx.doi.org/10.1158/1538-7445.AM2016-538
    Conference Abstracts | 2016
    Kotoula V; Razis E; Giannoulatou E; Vrettou E; Charalambous E; Kouvatseas G; Tikas I; Papadopoulos S; Papaemmanoyil S; Rigakos G; Zaramboukas T; Romanidou O; Iliadis G; Nomikos P; Selviaridis P; Polyzoidis K; Fountzilas G, 2016, 'MUTATION CHARACTERISTICS IN HIGH-GRADE GLIOMAS', in NEURO-ONCOLOGY, OXFORD UNIV PRESS INC, AZ, Scottsdale, Vol. 18, pp. 112 - 113, presented at 21st Annual Scientific Meeting and Education Day of the Society-for-Neuro-Oncology, AZ, Scottsdale, 17 November 2016 - 20 November 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000398604102195&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2016
    Troup M; Yang A; Kamali AH; Giannoulatou E; Chen TY; Ho JWK, 2016, 'A cloud-based framework for applying metamorphic testing to a bioinformatics pipeline', in Proceedings - International Conference on Software Engineering, pp. 33 - 36, http://dx.doi.org/10.1145/2896971.2896975

A/Prof Giannoulatou has been awarded a Heart Foundation Future Leader Fellowship, a NSW Health Early-Mid Career Fellowship and a NSW Health Early-Mid Career Researcher Cardiovascular Grant. She is currently co-investigator in multiple funded grants including: 3 NHMRC Project Grants (2 as CIB and 1 as CIC), a NHMRC Synergy Grant (CIC) and a MRFF Project Grant. 

Key Research Areas

•    Bioinformatics & Statistical Genetics
•    Analysis of high-throughput genomic datasets (whole genome/exome sequencing, RNA-seq)
•    Genetics of Cardiovascular Disease such as Congenital Heart Disease, Spontaneous Coronary Artery Dissection and Dilated Cardiomyopathy


Research Overview

High-throughput genome sequencing technologies have revolutionised our understanding of human genetic diseases. What is currently needed is new computational approaches to match these recent advances in sequencing technology. This will enable researchers to explore massive datasets more easily and translate the insights contained within to help realise a future where personalized medicine based on individual genomes is the norm.

A/Prof Giannoulatou and her team analyse large amounts of genomic data to identify genetic causes of disease and understand fundamental mechanisms in biology. The main focus of her team is to identify the genetic causes of cardiovascular disease such as congenital heart disease, spontaneous coronary artery dissection and dilated cardiomyopathy.

There are 4 key projects underway in the Computational Genomics Laboratory, led by A/Prof Eleni Giannoulatou;

1. Identification of genetic causes of Congenital Heart Disease

 Congenital heart disease (CHD) defines a large set of structural and functional deficits that arise during cardiac embryogenesis affecting 8 out of 1,000 live births. The cause of 80% of the CHD cases remains unknown. We develop quantitative approaches to analyse large sequencing datasets aiming to understand the genetic mechanisms underlying CHD. This project is part of a large collaborative study with Prof Sally Dunwoodie.

2. Development of novel bioinformatics methodology to increase the current diagnostic rate of genetic diseases

We develop state-of-the-art computational methods to analyse genomic data.  These include variant calling and variant prioritisation methodology, identification of splice-altering variants and robust detection of copy number variation, among others. Applications include in-house medical genomics projects such as the Congenital Heart Disease whole genome sequencing project as well as other large genomic studies.

3. Exploring the genetic architecture of Spontaneous Coronary Artery Dissection
 
Spontaneous coronary artery dissection (SCAD) is an emergency condition that occurs when a tear forms in one of the blood vessels in the heart. If not diagnosed and treated quickly, it can cause heart attack or sudden death. SCAD predominantly affects young healthy women with no obvious risk factors. To date no obvious cause of this acute disease has been identified. A/Prof Giannoulatou is leading the genomic analysis of a large collaborative project with Prof Bob Graham aiming to discover the genetic causes of SCAD. 

4. Bioinformatics of the Australian Genomics Health Alliance Cardiovascular Flagship Data

A/Prof Giannoulatou is the co-lead of the Bioinformatics/Secondary Analysis of the genome data recruited and sequenced by the Australian Genomics Health Alliance (AGHA) Cardiovascular Flagship. Through this initiative, her team collaborates and interacts with a large multi-disciplinary group consisting of clinicians, geneticists and functional genomics experts to deliver the most accurate diagnosis to congenital heart disease and dilated cardiomyopathy patients.