Items where Author is "Giannoulatou, Eleni"

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Gudkov, Mikhail and Thibaut, Loïc and Khushi, Matloob and Blue, Gillian M. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2023) ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data. BMC Bioinformatics, 24 (1). ISSN 1471-2105

Adlam, David and Berrandou, Takiy-Eddine and Georges, Adrien and Nelson, Christopher P. and Giannoulatou, Eleni and Henry, Joséphine and Ma, Lijiang and Blencowe, Montgomery and Turley, Tamiel N. and Yang, Min-Lee and Chopade, Sandesh and Finan, Chris and Braund, Peter S. and Sadeg-Sayoud, Ines and Iismaa, Siiri E. and Kosel, Matthew L. and Zhou, Xiang and Hamby, Stephen E. and Cheng, Jenny and Liu, Lu and Tarr, Ingrid and Muller, David W. M. and d’Escamard, Valentina and King, Annette and Brunham, Liam R. and Baranowska-Clarke, Ania A. and Debette, Stéphanie and Amouyel, Philippe and Olin, Jeffrey W. and Patil, Snehal and Hesselson, Stephanie E. and Junday, Keerat and Kanoni, Stavroula and Aragam, Krishna G. and Butterworth, Adam S. and Bakker, Mark K. and Ruigrok, Ynte M. and Tweet, Marysia S. and Gulati, Rajiv and Combaret, Nicolas and Kadian-Dodov, Daniella and Kalman, Jonathan M. and Fatkin, Diane and Hingorani, Aroon D. and Saw, Jacqueline and Webb, Tom R. and Hayes, Sharonne N. and Yang, Xia and Ganesh, Santhi K. and Olson, Timothy M. and Kovacic, Jason C. and Graham, Robert M. and Samani, Nilesh J. and Bouatia-Naji, Nabila (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 (6). pp.964-972. ISSN 1061-4036

Ballinger, Mandy L. and Pattnaik, Swetansu and Mundra, Piyushkumar A. and Zaheed, Milita and Rath, Emma and Priestley, Peter and Baber, Jonathan and Ray-Coquard, Isabelle and Isambert, Nicholas and Causeret, Sylvain and van der Graaf, Winette T. A. and Puri, Ajay and Duffaud, Florence and Le Cesne, Axel and Seddon, Beatrice and Chandrasekar, Coonoor and Schiffman, Joshua D. and Brohl, Andrew S. and James, Paul A. and Kurtz, Jean-Emmanuel and Penel, Nicolas and Myklebost, Ola and Meza-Zepeda, Leonardo A. and Pickett, Hilda and Kansara, Maya and Waddell, Nicola and Kondrashova, Olga and Pearson, John V. and Barbour, Andrew P. and Li, Shuai and Nguyen, Tuong L. and Fatkin, Diane and Graham, Robert M. and Giannoulatou, Eleni and Green, Melissa J. and Kaplan, Warren and Ravishankar, Shyamsundar and Copty, Joseph and Powell, Joseph E. and Cuppen, Edwin and van Eijk, Kristel and Veldink, Jan and Ahn, Jin-Hee and Kim, Jeong Eun and Randall, R. Lor and Tucker, Kathy and Judson, Ian and Sarin, Rajiv and Ludwig, Thomas and Genin, Emmanuelle and Deleuze, Jean-Francois and Haber, Michelle and Marshall, Glenn and Cairns, Murray J. and Blay, Jean-Yves and Thomas, David M. (2023) Heritable defects in telomere and mitotic function selectively predispose to sarcomas. Science, 379 (6629). pp.253-260. ISSN 0036-8075

Bernkopf, Marie and Abdullah, Ummi B. and Bush, Stephen J. and Wood, Katherine A. and Ghaffari, Sahar and Giannoulatou, Eleni and Koelling, Nils and Maher, Geoffrey J. and Thibaut, Loïc M. and Williams, Jonathan and Blair, Edward M. and Kelly, Fiona Blanco and Bloss, Angela and Burkitt-Wright, Emma and Canham, Natalie and Deng, Alexander T. and Dixit, Abhijit and Eason, Jacqueline and Elmslie, Frances and Gardham, Alice and Hay, Eleanor and Holder, Muriel and Homfray, Tessa and Hurst, Jane A. and Johnson, Diana and Jones, Wendy D. and Kini, Usha and Kivuva, Emma and Kumar, Ajith and Lees, Melissa M. and Leitch, Harry G. and Morton, Jenny E. V. and Németh, Andrea H. and Ramachandrappa, Shwetha and Saunders, Katherine and Shears, Deborah J. and Side, Lucy and Splitt, Miranda and Stewart, Alison and Stewart, Helen and Suri, Mohnish and Clouston, Penny and Davies, Robert W. and Wilkie, Andrew O. M. and Goriely, Anne (2023) Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature Communications, 14 (1). ISSN 2041-1723

Bax, Monique and Romanov, Valentin and Junday, Keerat and Giannoulatou, Eleni and Martinac, Boris and Kovacic, Jason C. and Liu, Renjing and Iismaa, Siiri E. and Graham, Robert M. (2022) Arterial dissections: Common features and new perspectives. Frontiers in Cardiovascular Medicine, 9. ISSN 2297-055X

Ip, Eddie K. K. and Troup, Michael and Xu, Colin and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application. Frontiers in Genetics, 13. ISSN 1664-8021

Yang, Andrian and Alankarage, Dimuthu and Cuny, Hartmut and Ip, Eddie K.K. and Almog, Moran and Lu, Jessica and Das, Debjani and Enriquez, Annabelle and Szot, Justin O. and Humphreys, David T. and Blue, Gillian M. and Ho, Joshua W.K. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) CHDgene: A Curated Database for Congenital Heart Disease Genes. Circulation: Genomic and Precision Medicine, 15 (3). ISSN 2574-8300

Tarr, Ingrid and Hesselson, Stephanie and Iismaa, Siiri E. and Rath, Emma and Monger, Steven and Troup, Michael and Mishra, Ketan and Wong, Claire M.Y. and Hsu, Pei-Chen and Junday, Keerat and Humphreys, David T. and Adlam, David and Webb, Tom R. and Baranowska-Clarke, Anna A. and Hamby, Stephen E. and Carss, Keren J. and Samani, Nilesh J. and Bax, Monique and McGrath-Cadell, Lucy and Kovacic, Jason C. and Dunwoodie, Sally L. and Fatkin, Diane and Muller, David W.M. and Graham, Robert M. and Giannoulatou, Eleni (2022) Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing. Circulation: Genomic and Precision Medicine, 15 (4). ISSN 2574-8300

Blue, Gillian M. and Ip, Eddie K.K. and Troup, Michael and Dale, Russell C. and Sholler, Gary F. and Harvey, Richard P. and Dunwoodie, Sally L. and Giannoulatou, Eleni and Winlaw, David S. (2022) Insights into the genetic architecture underlying complex, critical congenital heart disease. American Heart Journal, 254. pp.166-171. ISSN 00028703

Blue, Gillian M. and Mekel, Mauk and Das, Debjani and Troup, Michael and Rath, Emma and Ip, Eddie and Gudkov, Mikhail and Perumal, Gopinath and Harvey, Richard P. and Sholler, Gary F. and Gecz, Jozef and Kirk, Edwin P. and Liu, Jinfen and Giannoulatou, Eleni and Hong, Haifa and Dunwoodie, Sally L. and Winlaw, David S. (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. ISSN 00028703

Ridone, Pietro and Ishida, Tsubasa and Lin, Angela and Humphreys, David T. and Giannoulatou, Eleni and Sowa, Yoshiyuki and Baker, Matthew A. B. (2022) The rapid evolution of flagellar ion selectivity in experimental populations of E. coli. Science Advances, 8 (47). ISSN 2375-2548

Iismaa, Siiri E. and Hesselson, Stephanie and McGrath-Cadell, Lucy and Muller, David W. and Fatkin, Diane and Giannoulatou, Eleni and Kovacic, Jason and Graham, Robert M. (2021) Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: Vasculopathies With a Predilection for Women. Heart, Lung and Circulation. ISSN 14439506

Chatzopoulos, Kyriakos and Kotoula, Vassiliki and Koliou, Georgia-Angeliki and Giannoulatou, Eleni and Papadopoulou, Kyriaki and Karavasilis, Vasilios and Pazarli, Elissavet and Pervana, Stavroula and Kafiri, Georgia and Tsoulfas, Georgios and Chrisafi, Sofia and Sgouramali, Helen and Papakostas, Pavlos and Pectasides, Dimitrios and Hytiroglou, Prodromos and Pentheroudakis, George and Fountzilas, George (2021) Genotype-phenotype associations in colorectal adenocarcinomas and their matched metastases. Human Pathology, 107. pp.104-116. ISSN 00468177

Kotoula, Vassiliki and Chatzopoulos, Kyriakos and Papadopoulou, Kyriaki and Giannoulatou, Eleni and Koliou, Georgia-Angeliki and Karavasilis, Vasilios and Pazarli, Elissavet and Pervana, Stavroula and Kafiri, Georgia and Tsoulfas, Georgios and Chrisafi, Sofia and Sgouramali, Helen and Papakostas, Pavlos and Pectasides, Dimitrios and Hytiroglou, Prodromos and Pentheroudakis, George and Fountzilas, George (2021) Genotyping data of routinely processed matched primary/metastatic tumor samples. Data in Brief, 34. p. 106646. ISSN 23523409

Kalisch-Smith, Jacinta I. and Ved, Nikita and Szumska, Dorota and Munro, Jacob and Troup, Michael and Harris, Shelley E. and Rodriguez-Caro, Helena and Jacquemot, Aimée and Miller, Jack J. and Stuart, Eleanor M. and Wolna, Magda and Hardman, Emily and Prin, Fabrice and Lana-Elola, Eva and Aoidi, Rifdat and Fisher, Elizabeth M. C. and Tybulewicz, Victor L. J. and Mohun, Timothy J. and Lakhal-Littleton, Samira and De Val, Sarah and Giannoulatou, Eleni and Sparrow, Duncan B. (2021) Maternal iron deficiency perturbs embryonic cardiovascular development in mice. Nature Communications, 12 (1). ISSN 2041-1723

Alvarez, Maria Elena Vilar and Chivers, Martin and Borovska, Ivana and Monger, Steven and Giannoulatou, Eleni and Kralovicova, Jana and Vorechovsky, Igor (2021) Transposon clusters as substrates for aberrant splice-site activation. RNA Biology, 18 (3). pp.354-367. ISSN 1547-6286

Fountzilas, Elena and Kotoula, Vassiliki and Koliou, Georgia-Angeliki and Liontos, Michalis and Papadopoulou, Kyriaki and Giannoulatou, Eleni and Papanikolaou, Alexios and Tikas, Ioannis and Chrisafi, Sofia and Mauri, Davide and Chatzopoulos, Kyriakos and Fostira, Florentia and Pectasides, Dimitrios and Oikonomopoulos, Georgios and Aivazi, Dimitra and Andrikopoulou, Angeliki and Visvikis, Anastasios and Aravantinos, Gerasimos and Zagouri, Flora and Fountzilas, George (2021) Tumor Genotyping and Homologous Recombination Repair Gene Variants in Patients With Epithelial Ovarian Cancer: Is Pathogenic Enough? Frontiers in Oncology, 11. ISSN 2234-943X

Chapman, Gavin and Moreau, Julie L M and Ip, Eddie and Szot, Justin O and Iyer, Kavitha R and Shi, Hongjun and Yam, Michelle X and O’Reilly, Victoria C and Enriquez, Annabelle and Greasby, Joelene A and Alankarage, Dimuthu and Martin, Ella M M A and Hanna, Bernadette C and Edwards, Matthew and Monger, Steven and Blue, Gillian M and Winlaw, David and Ritchie, Helen E and Grieve, Stuart M and Giannoulatou, Eleni and Sparrow, Duncan B and Dunwoodie, Sally L (2020) Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants. Human Molecular Genetics. ISSN 0964-6906

Dickinson, Matthew and Kliszczak, Anna E. and Giannoulatou, Eleni and Peppa, Dimitra and Pellegrino, Pierre and Williams, Ian and Drakesmith, Hal and Borrow, Persephone (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. ISSN 1664-3224

Alankarage, Dimuthu and Szot, Justin O and Pachter, Nick and Slavotinek, Anne and Selleri, Licia and Shieh, Joseph T and Winlaw, David and Giannoulatou, Eleni and Chapman, Gavin and Dunwoodie, Sally L (2020) Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. ISSN 0964-6906

Martin, Ella M M A and Enriquez, Annabelle and Sparrow, Duncan B and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Duncan, Emma L and Iyer, Kavitha R and Greasby, Joelene A and Ip, Eddie and Giannoulatou, Eleni and Sheng, Delicia and Wohler, Elizabeth and Dimartino, Clémantine and Amiel, Jeanne and Capri, Yline and Lehalle, Daphné and Mory, Adi and Wilnai, Yael and Lebenthal, Yael and Gharavi, Ali G and Krzemień, Grażyna G and Miklaszewska, Monika and Steiner, Robert D and Raggio, Cathy and Blank, Robert and Baris Feldman, Hagit and Milo Rasouly, Hila and Sobreira, Nara L M and Jobling, Rebekah and Gordon, Christopher T and Giampietro, Philip F and Dunwoodie, Sally L and Chapman, Gavin (2020) Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29 (22). pp.3662-3678. ISSN 0964-6906

Razis, Evangelia and Kotoula, Vassiliki and Koliou, Georgia-Angeliki and Papadopoulou, Kyriaki and Vrettou, Eleni and Giannoulatou, Eleni and Tikas, Ioannis and Labropoulos, Stefanos V. and Rigakos, Georgios and Papaemmanoyil, Styliani and Romanidou, Ourania and Bourkoula, Eugenia and Nomikos, Panagiotis and Iliadis, Georgios and Nasioulas, George and Selviaridis, Panagiotis and Polyzoidis, Konstantinos and Fountzilas, George (2020) Is There an Independent Role of TERT and NF1 in High Grade Gliomas? Translational Oncology, 13 (2). pp.346-354. ISSN 19365233

Wang, Qing and Ye, Jianzhong and Fang, Daiqiong and Lv, Longxian and Wu, Wenrui and Shi, Ding and Li, Yating and Yang, Liya and Bian, Xiaoyuan and Wu, Jingjing and Jiang, Xianwan and Wang, Kaicen and Wang, Qiangqiang and Hodson, Mark P. and Thibaut, Loïc M. and Ho, Joshua W. K. and Giannoulatou, Eleni and Li, Lanjuan (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 (S1). p. 83. ISSN 1471-2180

Fountzilas, Elena and Kotoula, Vassiliki and Koliou, Georgia-Angeliki and Giannoulatou, Eleni and Gogas, Helen and Papadimitriou, Christos and Tikas, Ioannis and Zhang, Jianhua and Papadopoulou, Kyriaki and Zagouri, Flora and Christodoulou, Christos and Koutras, Angelos and Makatsoris, Thomas and Chrisafi, Sofia and Linardou, Helena and Varthalitis, Ioannis and Papatsibas, George and Razis, Evangelia and Papakostas, Pavlos and Samantas, Epaminontas and Aravantinos, Gerasimos and Bafaloukos, Dimitrios and Kosmidis, Paris and Koumarianou, Anna and Psyrri, Amanda and Pentheroudakis, Georgios and Pectasides, Dimitrios and Futreal, Andrew and Fountzilas, George and Tsimberidou, Apostolia M. (2020) Pathogenic mutations and overall survival in 3,084 patients with cancer: the Hellenic Cooperative Oncology Group Precision Medicine Initiative. Oncotarget, 11 (1). pp.1-14. ISSN 1949-2553

Carss, Keren J. and Baranowska, Anna A. and Armisen, Javier and Webb, Tom R. and Hamby, Stephen E. and Premawardhana, Diluka and Al-Hussaini, Abtehale and Wood, Alice and Wang, Quanli and Deevi, Sri V. V. and Vitsios, Dimitrios and Lewis, Samuel H. and Kotecha, Deevia and Bouatia-Naji, Nabila and Hesselson, Stephanie and Iismaa, Siiri E. and Tarr, Ingrid and McGrath-Cadell, Lucy and Muller, David W. and Dunwoodie, Sally L. and Fatkin, Diane and Graham, Robert M. and Giannoulatou, Eleni and Samani, Nilesh J. and Petrovski, Slavé and Haefliger, Carolina and Adlam, David (2020) Spontaneous Coronary Artery Dissection. Circulation: Genomic and Precision Medicine, 13 (6). ISSN 2574-8300

Giannoulatou, Eleni and Ho, Joshua W K and Hadinata, Clinton and Ip, Eddie K K and Valencia, Alfonso (2020) dv-trio: a family-based variant calling pipeline using DeepVariant. Bioinformatics. ISSN 1367-4803

Kotoula, Vassiliki and Lakis, Sotirios and Tikas, Ioannis and Giannoulatou, Eleni and Lazaridis, Georgios and Papadopoulou, Kyriaki and Manoussou, Kyriaki and Efstratiou, Ioannis and Papanikolaou, Alexios and Fostira, Florentia and Vlachos, Ioannis and Tarlatzis, Basil and Fountzilas, George (2019) Pathogenic BRCA1 mutations may be necessary but not sufficient for tissue genomic heterogeneity: Deep sequencing data from ovarian cancer patients. Gynecologic Oncology, 152 (2). pp.375-386. ISSN 00908258 (Not OA)

Ho, Joshua W. K. and Giannoulatou, Eleni (2019) Big data: the elements of good questions, open data, and powerful software. Biophysical Reviews, ePub. ISSN 1867-2450 (Not OA)

Wang, Qing and Wang, Kaicen and Wu, Wenrui and Giannoulatou, Eleni and Ho, Joshua W K and Li, Lanjuan (2019) Host and microbiome multi-omics integration: applications and methodologies. Biophysical Reviews. ISSN 1867-2450 (Not OA)

Adlam, David and Kovacic, Jason C and Iismaa, Siiri E and Al-Hussaini, Abtehale and Wong, Claire Mei Yi and Giannoulatou, Eleni and Sweeting, Michael and Muller, David and Wood, Alice and McGrath-Cadell, Lucy and Fatkin, Diane and Dunwoodie, Sally L and Harvey, Richard and Holloway, Cameron and Empana, Jean-Philippe and Graham, Robert M and Motreff, Pascal and Meneveau, Nicolas and Gilard, Martine and Rioufol, Gilles and Range, Grégoire and Brunel, Philippe and Delarche, Nicolas and Filippi, Emmanuelle and Le Bivic, Louis and Harbaoui, Brahim and Benamer, Hakim and Cayla, Guillaume and Varenne, Olivier and Manzo-Silberman, Stephane Peggy and Silvain, Johanne and Spaulding, Christian and Caussin, Christophe and Gerbaud, Edouard and Valy, Yann and Koning, René and Lhermusier, Thibault and Champin, Stanislas and Salengro, Emmanuel and Fluttaz, Arnaud and Zabalawi, Amer and Cottin, Yves and Teiger, Emmanuel and Saint-Etienne, Christophe and Ducrocq, Grégory and Marliere, Stéphanie and Boiffard, Emmanuel and Aubry, Pierre and Georges, Jean Louis and Benamer, Hakim and Bresson, Didier and De Poli, Fabien and Karrillon, Gaëtan and Roule, Vincent and Bali, Laurent and Valla, Mathieu and Gerbay, Antoine and Houpe, David and Dubreuil, Olivier and Monnier, Arsène and Mayaud, Norbert and Manchuelle, Aurélie and Commeau, Philippe and Bedossa, Marc and Nikpay, Majid and Goel, Anuj and Won, Hong-Hee and Hall, Leanne M. and Willenborg, Christina and Kanoni, Stavroula and Saleheen, Danish and Kyriakou, Theodosios and Nelson, Christopher P. and Hopewell, Jemma C. and Webb, Thomas R. and Zeng, Lingyao and Dehghan, Abbas and Alver, Maris and Armasu, Sebastian M and Auro, Kirsi and Bjonnes, Andrew and Chasman, Daniel I. and Chen, Shufeng and Ford, Ian and Franceschini, Nora and Gieger, Christian and Grace, Christopher and Gustafsson, Stefan and Huang, Jie and Hwang, Shih-Jen and Kim, Yun Kyoung and Kleber, Marcus E. and Lau, King Wai and Lu, Xiangfeng and Lu, Yingchang and Lyytikäinen, Leo P. and Mihailov, Evelin and Morrison, Alanna and Pervjakova, Natalia and Qu, Liming and Rose, Lynda M. and Salfati, Elias and Saxena, Richa and Scholz, Markus and Smith, Albert V. and Tikkanen, Emmi and Uitterlinden, Andre and Yang, Xueli and Zhang, Weihua and Zhao, Wei and de Andrade, Mariza and de Vries, Paul S. and van Zuydam, Natalie R. and Anand, Sonia S. and Bertram, Lars and Beutner, Frank and Dedoussis, George and Frossard, Philippe and Gauguier, Dominique and Goodall, Alison H. and Gottesman, Omri and Haber, Marc and Han, Bok-Ghee and Huang, Jianfeng and Jalilzadeh, Shapour and Kessler, Thorsten and Thiery, Joachim and Zalloua, Pierre A. and O'Donnell, Christopher J. and Reilly, Muredach P. and Assimes, Themistocles L. and Thompson, John R. and Erdmann, Jeanette and Clarke, Robert and Watkins, Hugh and Kathiresan, Sekar and McPherson, Ruth and Deloukas, Panos and Schunkert, Heribert and Samani, Nilesh J. and Farrall, Martin (2019) Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection. Journal of the American College of Cardiology, 73 (1). pp.58-66. ISSN 1558-3597 (Not OA)

Horvat, Claire and Johnson, Renee and Lam, Lien and Munro, Jacob and Mazzarotto, Francesco and Roberts, Angharad M and Herman, Daniel S and Parfenov, Michael and Haghighi, Alireza and McDonough, Barbara and DePalma, Steven R and Keogh, Anne M and Macdonald, Peter S and Hayward, Christopher S and Roberts, Amy and Barton, Paul J R and Felkin, Leanne E and Giannoulatou, Eleni and Cook, Stuart A and Seidman, Jonathan G and Seidman, Christine E and Fatkin, Diane (2019) A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. Genetics in Medicine, 21 (1). pp.133-143. ISSN 1098-3600 (Not OA)

Wang, Qing and Kotoula, Vassiliki and Hsu, Pei-Chen and Papadopoulou, Kyriaki and Ho, Joshua W. K. and Fountzilas, George and Giannoulatou, Eleni (2019) Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data. BMC Medical Genomics, 12 (S9). ISSN 1755-8794

Ip, Eddie and Chapman, Gavin and Winlaw, David and Dunwoodie, Sally L. and Giannoulatou, Eleni (2019) VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. Genomics, Proteomics & Bioinformatics. ISSN 16720229

Maher, Geoffrey J and Ralph, Hannah K and Ding, Zhihao and Koelling, Nils and Mlcochova, Hana and Giannoulatou, Eleni and Dhami, Pawan and Paul, Dirk S. and Stricker, Stefan H. and Beck, Stephan and McVean, Gilean and Wilkie, Andrew O.M. and Goriely, Anne (2018) Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes. Genome Research, 28 (12). pp.1779-1790. ISSN 1088-9051 (PMC OA)

Kotoula, Vassiliki and Tsakiri, Kalliopi and Koliou, Georgia-Angeliki and Lazaridis, Georgios and Papadopoulou, Kyriaki and Giannoulatou, Eleni and Tikas, Ioannis and Christodoulou, Christos and Chatzopoulos, Kyriakos and Bobos, Mattheos and Pentheroudakis, George and Tsolaki, Eleftheria and Batistatou, Anna and Kotsakis, Athanassios and Koutras, Angelos and Linardou, Helena and Razis, Evangelia and Res, Eleni and Pectasides, Dimitrios and Fountzilas, George (2018) Relapsed and De Novo Metastatic HER2-positive Breast Cancer Treated With Trastuzumab: Tumor Genotypes and Clinical Measures Associated With Patient Outcome. Clinical Breast Cancer, ePub. ISSN 1526-8209 (Not OA)

Strange, Geoff and Lau, Edmund M T and Giannoulatou, Eleni and Corrigan, Carolyn and Kotlyar, Eugene and Kermeen, Fiona and Williams, Trevor and Celermajer, David S and Dwyer, Nathan and Whitford, Helen and Wrobel, Jeremy P and Feenstra, John and Lavender, Melanie and Whyte, Kenneth and Collins, Nicholas and Steele, Peter and Proudman, Susanna and Thakkar, Vivek and Keating, Dominic and Keogh, Anne (2018) Survival of Idiopathic Pulmonary Arterial Hypertension Patients in the Modern Era in Australia and New Zealand. Heart Lung and Circulation, 27 (11). pp.1368-1375. ISSN 14439506 (PP OA)

Alankarage, Dimuthu and Ip, Eddie and Szot, Justin O and Munro, Jacob and Blue, Gillian M and Harrison, Katrina and Cuny, Hartmut and Enriquez, Annabelle and Troup, Michael and Humphreys, David T and Wilson, Meredith and Harvey, Richard P and Sholler, Gary F and Graham, Robert M and Ho, Joshua W K and Kirk, Edwin P and Pachter, Nicholas and Chapman, Gavin and Winlaw, David S and Giannoulatou, Eleni and Dunwoodie, Sally L (2018) Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genetics in Medicine, ePub. ISSN 1098-3600 (Not OA)

Papaxoinis, George and Kotoula, Vassiliki and Giannoulatou, Eleni and Koliou, Georgia-Angeliki and Karavasilis, Vasilios and Lakis, Sotirios and Koureas, Andreas and Bobos, Mattheos and Chalaralambous, Elpida and Daskalaki, Emily and Chatzopoulos, Kyriakos and Tsironis, George and Pazarli, Elisavet and Chrisafi, Sofia and Samantas, Epaminontas and Kaklamanos, Ioannis G. and Varthalitis, Ioannis and Konstantara, Athina and Syrigos, Konstantinos N. and Pentheroudakis, George and Pectasides, Dimitrios and Fountzilas, George (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 (7). p. 101. ISSN 1357-0560 (Not OA)

Blue, Gillian M and Ip, Eddie and Walker, Karen and Kirk, Edwin P and Loughran-Fowlds, Alison and Sholler, Gary F and Dunwoodie, Sally L and Harvey, Richard P and Giannoulatou, Eleni and Badawi, Nadia and Winlaw, David S (2018) Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. American Heart Journal, 201. pp.33-39. ISSN 00028703 (Not OA)

Szot, Justin O and Cuny, Hartmut and Blue, Gillian M and Humphreys, David T and Ip, Eddie and Harrison, Katrina and Sholler, Gary F and Giannoulatou, Eleni and Leo, Paul J and Duncan, Emma L and Sparrow, Duncan B and Ho, Joshua W K and Graham, Robert M and Pachter, Nicholas S and Chapman, Gavin and Winlaw, David S and Dunwoodie, Sally L (2018) A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11 (3). pp. e001978. ISSN (Not OA)

Fountzilas, George and Psyrri, Amanda and Giannoulatou, Eleni and Tikas, Ioannis and Manousou, Kyriaki and Rontogianni, Dimitra and Ciuleanu, Elisabeta and Ciuleanu, Tudor and Resiga, Liliana and Zaramboukas, Thomas and Papadopoulou, Kyriaki and Bobos, Mattheos and Chrisafi, Sofia and Tsolaki, Eleftheria and Markou, Konstantinos and Giotakis, Evangelos and Koutras, Angelos and Psoma, Elsa and Kalogera-Fountzila, Anna and Skondra, Maria and Bamia, Christina and Pectasides, Dimitrios and Kotoula, Vassiliki (2018) Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe. International Journal of Cancer, 142 (1). pp.66-80. ISSN 00207136 (Not OA)

Rigoni, Alice and Poulsom, Richard and Jeffery, Rosemary and Mehta, Shameer and Lewis, Amy and Yau, Christopher and Giannoulatou, Eleni and Feakins, Roger and Lindsay, James O and Colombo, Mario P and Silver, Andrew (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 (1). pp.136-148. ISSN 1078-0998 (Not OA)

McCormick, Helen and Young, Paul E and Hur, Suzy S J and Booher, Keith and Chung, Hunter and Cropley, Jennifer E and Giannoulatou, Eleni and Suter, Catherine M (2017) Isogenic mice exhibit sexually-dimorphic DNA methylation patterns across multiple tissues. BMC Genomics, 18 (1). pp.1-9. ISSN 1471-2164 (OA)

Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M M A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L (2017) NAD Deficiency, Congenital Malformations, and Niacin Supplementation. The New England Journal of Medicine, 377 (6). pp.544-552. ISSN 1533-4406 (OA)

Munro, Jacob E and Dunwoodie, Sally L and Giannoulatou, Eleni (2017) SVPV: a structural variant prediction viewer for paired-end sequencing datasets. Bioinformatics, 33 (13). pp.2032-2033. ISSN 1367-4811 (OA)

Lau, Edmund M T and Giannoulatou, Eleni and Celermajer, David S and Humbert, Marc (2017) Epidemiology and treatment of pulmonary arterial hypertension. Nature Reviews. Cardiology, 14. pp.603-614. ISSN 1759-5010 (Not OA)

Giannoulatou, Eleni and Maher, Geoffrey J and Ding, Zhihao and Gillis, Ad J. M and Dorssers, Lambert C. J and Hoischen, Alexander and Rajpert-De Meyts, Ewa and McVean, Gilean and Wilkie, Andrew O. M. and Looijenga, Leendert H. J. and Goriely, Anne (2017) Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. PloS One, 12 (5). pp. e0178169. ISSN 1932-6203 (Gold OA)

Hancock, Gemma and Morón-López, Sara and Kopycinski, Jakub and Puertas, Maria C and Giannoulatou, Eleni and Rose, Annie and Salgado, Maria and Hayton, Emma-Jo and Crook, Alison and Morgan, Catharine and Angus, Brian and Chen, Fabian and Yang, Hongbing and Martinez-Picado, Javier and Hanke, Tomas and Dorrell, Lucy (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 (1). pp.1-11. ISSN 1758-2652 (OA)

Lewis, Amy and Felice, Carla and Kumagai, Tomoko and Lai, Cecilia and Singh, Kriti and Jeffery, Rosemary R and Feakins, Roger and Giannoulatou, Eleni and Armuzzi, Alessandro and Jawad, Noor and Lindsay, James O and Silver, Andrew (2017) The miR-200 family is increased in dysplastic lesions in ulcerative colitis patients. PloS One, 12 (3). pp. e0173664. ISSN 1932-6203 (Gold OA)

Blue, Gillian M and Kirk, Edwin P and Giannoulatou, Eleni and Sholler, Gary F and Dunwoodie, Sally L and Harvey, Richard P and Winlaw, David S (2017) Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide. Journal of the American College of Cardiology, 69 (7). pp.859-870. ISSN 1558-3597 (OA)

Fountzilas, Elena and Kotoula, Vassiliki and Zagouri, Flora and Giannoulatou, Eleni and Kouvatseas, George and Pentheroudakis, George and Koletsa, Triantafyllia and Bobos, Mattheos and Papadopoulou, Kyriaki and Samantas, Epaminontas and Demiri, Efterpi and Miliaras, Spyros and Christodoulou, Christos and Chrisafi, Sofia and Razis, Evangelia and Fostira, Florentia and Pectasides, Dimitrios and Zografos, George and Fountzilas, George (2016) Disease evolution and heterogeneity in bilateral breast cancer. American Journal of Cancer Research, 6 (11). pp.2611-2630. ISSN 2156-6976 (PMC OA)

Kotoula, Vassiliki and Lakis, Sotiris and Vlachos, Ioannis S and Giannoulatou, Eleni and Zagouri, Flora and Alexopoulou, Zoi and Gogas, Helen and Pectasides, Dimitrios and Aravantinos, Gerasimos and Efstratiou, Ioannis and Pentheroudakis, George and Papadopoulou, Kyriaki and Chatzopoulos, Kyriakos and Papakostas, Pavlos and Sotiropoulou, Maria and Nicolaou, Irene and Razis, Evangelia and Psyrri, Amanda and Kosmidis, Paris and Papadimitriou, Christos and Fountzilas, George (2016) Tumor Infiltrating Lymphocytes Affect the Outcome of Patients with Operable Triple-Negative Breast Cancer in Combination with Mutated Amino Acid Classes. PloS One, 11 (9). pp. e0163138. ISSN 1932-6203 (Gold OA)

Kotoula, Vassiliki and Karavasilis, Vasilios and Zagouri, Flora and Kouvatseas, George and Giannoulatou, Eleni and Gogas, Helen and Lakis, Sotiris and Pentheroudakis, George and Bobos, Mattheos and Papadopoulou, Kyriaki and Tsolaki, Eleftheria and Pectasides, Dimitrios and Lazaridis, Georgios and Koutras, Angelos and Aravantinos, Gerasimos and Christodoulou, Christos and Papakostas, Pavlos and Markopoulos, Christos and Zografos, George and Papandreou, Christos and Fountzilas, George (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 (2). pp.307-321. ISSN 1573-7217 (PP OA)

Cropley, Jennifer E and Eaton, Sally A and Aiken, Alastair and Young, Paul E and Giannoulatou, Eleni and Ho, Joshua W K and Buckland, Michael E and Keam, Simon P and Hutvagner, Gyorgy and Humphreys, David T and Langley, Katherine G and Henstridge, Darren C and Martin, David I K and Febbraio, Mark A and Suter, Catherine M (2016) Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity. Molecular Metabolism, 5 (8). pp.699-708. ISSN 2212-8778 (OA)

Walton, Sarah-Jane and Lewis, Amy and Jeffery, Rosemary and Thompson, Hannah and Feakins, Roger and Giannoulatou, Eleni and Yau, Christopher and Lindsay, James O and Clark, Susan K and Silver, Andrew (2016) Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours. Oncoscience, 3 (5-6). pp.173-85. ISSN 2331-4737 (OA)

Troup, Michael and Yang, Andrian and Kamali, Amir Hossein and Giannoulatou, Eleni and Chen, Tsong Yueh and Ho, Joshua W K (2016) A cloud-based framework for applying metamorphic testing to a bioinformatics pipeline. Proceedings of the First International Workshop on Metamorphic Testing (PP OA). pp.33-36.

Wang, X and McCormick, H and Djordjevic, Djordje and Giannoulatou, Eleni and Suter, Catherine M and Ho, Joshua W K (2016) Epigenomic analysis of chromatin organization and DNA methylation. Computational Biology and Bioinformatics: Gene Regulation, BOOK. ISSN 9781498724975 - CAT# K25752 (Book chapter - OA not required)

Giannoulatou, Eleni and Kamali, Amir Hossein and Yang, Andrian and Chen, Tsong Yueh and Ho, Joshua W K (2016) Quality assurance in genome-scale bioinformatics analyses (Book Chapter). Computational Biology & Bioinformatics: Gene Regulation, BOOK. ISSN 9781498724975 - CAT# K25752 (Book Chapter)

Fountzilas, George and Giannoulatou, Eleni and Alexopoulou, Zoi and Zagouri, Flora and Timotheadou, Eleni and Papadopoulou, Kyriaki and Lakis, Sotiris and Bobos, Mattheos and Poulios, Christos and Sotiropoulou, Maria and Lyberopoulou, Aggeliki and Gogas, Helen and Pentheroudakis, George and Pectasides, Dimitrios and Koutras, Angelos and Christodoulou, Christos and Papandreou, Christos and Samantas, Epaminontas and Papakostas, Pavlos and Kosmidis, Paris and Bafaloukos, Dimitrios and Karanikiotis, Charisios and Dimopoulos, Meletios-Athanassios and Kotoula, Vassiliki (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 (22). pp.32731-32753. ISSN 1949-2553 (OA)

Maher, Geoffrey J and McGowan, Simon J and Giannoulatou, Eleni and Verrill, Clare and Goriely, Anne and Wilkie, Andrew O M (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 (9). pp.2454-9. ISSN 1091-6490 (OA)

Al-Zyoud, Walid A and Hynson, Robert M G and Ganuelas, Lorraine A and Coster, Adelle C F and Duff, Anthony P and Baker, Matthew A B and Stewart, Alastair G and Giannoulatou, Eleni and Ho, Joshua W K and Gaus, Katharina and Liu, Dali and Lee, Lawrence K and Böcking, Till (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 (3). pp.1411-20. ISSN 1362-4962 (PMC OA)

Monger, Steven and Troup, Michael and Ip, Eddie and Dunwoodie, Sally L and Giannoulatou, Eleni and Birol, Inanc (2016) Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants. Bioinformatics. ISSN 1367-4803

Kamali, Amir Hossein and Giannoulatou, Eleni and Chen, Tsong Yueh and Charleston, Michael A. and McEwan, Alistair L. and Ho, Joshua W K (2015) How to test bioinformatics software? Biophysical Reviews, 7 (3). pp.343-352. ISSN 1867-2450 (PP OA)

Darton, Thomas C and Blohmke, Christoph J and Giannoulatou, Eleni and Waddington, Claire S and Jones, Claire and Sturges, Pamela and Webster, Craig and Drakesmith, Hal and Pollard, Andrew J and Armitage, Andrew E (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 (9). pp. e0004029. ISSN 1935-2735 (Gold OA)

Djordjevic, Djordje and Deshpande, Vinita and Szczesnik, Tomasz and Yang, Andrian and Humphreys, David T and Giannoulatou, Eleni and Ho, Joshua W K (2015) Decoding the complex genetic causes of heart diseases using systems biology. Biophys Rev, 7. pp.141-159. ISSN (PP OA)

Blue, Gillian M and Kirk, Edwin P and Giannoulatou, Eleni and Dunwoodie, Sally L and Ho, Joshua W K and Hilton, Desiree C K and White, Susan M and Sholler, Gary F and Harvey, Richard P and Winlaw, David S (2014) Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. Journal of the American College of Cardiology, 64 (23). pp.2498-506. ISSN 1558-3597 (OA)

Giannoulatou, Eleni and Park, Shin-Ho and Humphreys, David T and Ho, Joshua W K (2014) Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie. BMC Bioinformatics, 15 Sup. pp. S15. ISSN 1471-2105 (PMC OA)

This list was generated on Fri Feb 23 05:48:49 2024 AEDT.