Professor Maureen J O'Sullivan

• McHugh J, Storey L, Bacon L, O'Marcaigh A, O'Sullivan M, Smith O, Paediatric follicular lymphoma., 2013Journal Article, 2013
• Kenny, Colin and McDonagh, Naomi and Lazaro, Antonio and O'Meara, Elaine and Klinger, Rut and O'Connor, Darran and Roche, Fiona and Hokamp, Karsten and O'Sullivan, Maureen J, Dysregulated mitogen-activated protein kinase signalling as an oncogenic basis for clear cell sarcoma of the kidney, The Journal of pathology, 244, (3), 2018, p334 - 345Journal Article, 2018, DOI , URL
• Foley, R.W. and Aworanti, O.M. and Gorman, L. and McGovern, B. and O'Sullivan, M. and Smith, O.P. and Twomey, E. and Gillick, J., Unusual childhood presentations of abdominal non-Hodgkin's lymphoma, Pediatrics International, 58, (4), 2016, p304-307Journal Article, 2016, DOI , URL
• Coyle, R. and Slattery, K. and Ennis, L. and O'Sullivan, M.J. and Zisterer, D.M. , The XIAP inhibitor embelin sensitises malignant rhabdoid tumour cells to TRAIL treatment via enhanced activation of the extrinsic apoptotic pathway, International Journal of Oncology, 55, (1), 2019, p191-202Journal Article, 2019, DOI , URL
• Phelan J.J., McQuaid, K., Kenny C., Gogan K.M., Cox D.J., Basdeo S.A., O'Leary S., Tazoll S.C., Ó Maoldomhnaigh C., O'Sullivan M.P., O'Neill LA, O'Sullivan M.J. & Keane J., Desferrioxamine supports metabolic function in primary human macrophages infected with Mycobacterium tuberculosis, Frontiers in Immunology, 2020Journal Article, 2020, DOI , URL , TARA - Full Text
• Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S, Kleiner G, Leahy TR, O'Sullivan M, Makiya M, O'Regan G, Pittaluga S, Niemela J, Stoddard J, Rosenzweig SD, Raffeld M, Klion AD, Milner JD., Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea., Blood, 129, (5), 2017, p650-653Journal Article, 2017, DOI
• Uwineza A, Gill H, Buckley P, Owens C, Capra M, O'Sullivan C, McDermott M, Brett F, Farrell M, Pears J, O'Sullivan MJ., Rhabdoid tumor: the Irish experience 1986-2013., Cancer genetics, 207, (9), 2014, p398-402Journal Article, 2014, DOI
• Hawkes CP, Betts DR, O'Brien J, O'Sullivan MJ, Capra M., Congenital sacrococcygeal PNET and chemotherapy., Indian journal of medical and paediatric oncology : official journal of Indian Society of Medical & Paediatric Oncology, 33, (3), 2012, p182-184Journal Article, 2012, DOI , URL
• Sasaki, E. and Phelan, E. and O'Regan, M. and Kassim, A.H. and Miletin, J. and McMahon, C. and O'Sullivan, M.J. and Baptista, J. and Lynch, S.A., HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckelâ€"Gruber in a Romani family, Clinical Genetics, 101, (1), 2022, p142-143Journal Article, 2022, DOI , URL
• Kenny C, O'Meara E, Ula" M, Hokamp K, O'Sullivan MJ., Global Chromatin Changes Resulting from Single-Gene Inactivation-The Role of SMARCB1 in Malignant Rhabdoid Tumor., Cancers, 13, (11), 2021Journal Article, 2021, DOI
• Hannon Barroeta, P. and Magnano, S. and O'Sullivan, M.J. and Zisterer, D.M., Evaluation of targeting autophagy for the treatment of malignant rhabdoid tumours, Cancer Treatment and Research Communications, 32, (100584), 2022Journal Article, 2022, DOI , URL
• Coyle, R. and O'Sullivan, M.J. and Zisterer, D.M., Targeting inhibitor of apoptosis proteins (IAPs) with IAP inhibitors sensitises malignant rhabdoid tumour cells to cisplatin, Cancer Treatment and Research Communications, 32, (100579), 2022Journal Article, 2022, DOI , URL
• Marek-Yagel D, Stenke E, Pode-Shakked B, Dunne C, Crushell E, Bryce-Smith A, McDermott M, O'Sullivan MJ, Veber A, Krishnamurthy M, Wells JM, Anikster Y, Bourke B., Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy., Human genetics, 2022Journal Article, 2022, DOI
• Shi Y, Yuan J, Rraklli V, Maxymovitz E, Cipullo M, Liu M, Li S, Westerlund I, Bedoya-Reina OC, Bullova P, Rorbach J, Juhlin CC, Stenman A, Larsson C, Kogner P, O'Sullivan MJ, Schlisio S, Holmberg J., Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors., Nucleic acids research, 49, (5), 2021, p2509-2521Journal Article, 2021, DOI
• McCarthy P, Harford J, O'Marcaigh A, Malone A, Evans P, Sills A, Storey L, Rooney S, Betts D, O'Sullivan MJ, McDermott M, Bond J, Trinquand A, Smith OP., Ongoing excellent outcomes with reduced toxicities following integration of molecular targeted therapies in pediatric anaplastic large cell lymphoma., Leukemia & lymphoma, 62, (8), 2021, p1995-1999Journal Article, 2021, DOI
• Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S, European Working Group of MDS in Children (EWOG-MDS), Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW., Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes., Nature medicine, 27, (10), 2021, p1806-1817Journal Article, 2021, DOI
• Kenny C, Grehan D, Ulas M, Banga GB, Coulomb A, Vokuhl C, O'Sullivan MJ., Immunophenotype-Genotype Correlations in Clear Cell Sarcoma of Kidney-An Evaluation of Diagnostic Ancillary Studies., Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 23, (5), 2020, p345-351Journal Article, 2020, DOI
• Xue Y, Zhu X, Meehan B, Venneti S, Martinez D, Morin G, Maïga RI, Chen H, Papadakis AI, Johnson RM, O'Sullivan MJ, Erdreich-Epstein A, Gotlieb WH, Park M, Judkins AR, Pelletier J, Foulkes WD, Rak J, Huang S., SMARCB1 loss induces druggable cyclin D1 deficiency via upregulation of MIR17HG in atypical teratoid rhabdoid tumors., The Journal of pathology, 252, (1), 2020, p77-87Journal Article, 2020, DOI
• Sandys N, Loomes C, Keane A, Hussey S, Broderick A, McDermott M, O'Sullivan M, Bourke B., Columnar Lined Esophagus/Gastric Metaplasia Requires Careful Follow-up., Journal of pediatric gastroenterology and nutrition, 71, (4), 2020, pe136Journal Article, 2020, DOI
• Wu MK, Vujanic GM, Fahiminiya S, Watanabe N, Thorner PS, O'Sullivan MJ, Fabian MR, Foulkes WD., Anaplastic sarcomas of the kidney are characterized by DICER1 mutations., Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 31, (1), 2018, p169-178Journal Article, 2018, DOI
• Stenke E, Stallard L, Cooper S, Dominik A, Pilkington A, Sugrue S, O'Sullivan M, McDermott M, Quinn S, Broderick A, Bourke B, Hussey S., Mucosal atrophy predicts poorer outcomes in pediatric ulcerative colitis- a national inception cohort study., Journal of pediatric gastroenterology and nutrition, 2023, pe003746Journal Article, 2023, DOI
• Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S, European Working Group of MDS in Children (EWOG-MDS), Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW., Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes., Nature medicine, 27, (12), 2021, p2248Journal Article, 2021, DOI
• MacMahon JM, O'Sullivan MJ, McDermott M, Quinn F, Morris T, Green AJ, Betts DR, O'Connell SM., Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome., Hormone research in paediatrics, 87, (2), 2017, p130-135Journal Article, 2017, DOI
• McGovern E, McNally P, O'Sullivan M, Phelan E, Sumner K, Best DH, McMahon CJ., Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension., Cardiology in the young, 26, (4), 2016, p663-668Journal Article, 2016, DOI
• Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Herminé A, Perotti D, de Camargo B, Bergeron C, Acha García T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O'Sullivan MJ., The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney., Genes, chromosomes & cancer, 55, (2), 2016, p143-147Journal Article, 2016, DOI
• Karlsson J, Valind A, Jansson C, O'Sullivan MJ, Holmquist Mengelbier L, Gisselsson D., Aberrant epigenetic regulation in clear cell sarcoma of the kidney featuring distinct DNA hypermethylation and EZH2 overexpression., Oncotarget, 7, (10), 2016, p11127-11136Journal Article, 2016, DOI
• Kenny C, Bausenwein S, Lazaro A, Furtwängler R, Gooskens SL, van den Heuvel Eibrink M, Vokuhl C, Leuschner I, Graf N, Gessler M, O'Sullivan MJ., Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story., The Journal of pathology, 238, (5), 2016, p617-620Journal Article, 2016, DOI
• Wu MK, Cotter MB, Pears J, McDermott MB, Fabian MR, Foulkes WD, O'Sullivan MJ., Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney., Human pathology, 53, 2016, p114-120Journal Article, 2016, DOI
• Chagtai T, Zill C, Dainese L, Wegert J, Savola S, Popov S, Mifsud W, Vujani" G, Sebire N, Le Bouc Y, Ambros PF, Kager L, O'Sullivan MJ, Blaise A, Bergeron C, Mengelbier LH, Gisselsson D, Kool M, Tytgat GA, van den Heuvel-Eibrink MM, Graf N, van Tinteren H, Coulomb A, Gessler M, Williams RD, Pritchard-Jones K., Gain of 1q As a Prognostic Biomarker in Wilms Tumors (WTs) Treated With Preoperative Chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 Trial: A SIOP Renal Tumours Biology Consortium Study., Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 34, (26), 2016, p3195-3203Journal Article, 2016, DOI
• O'Sullivan M., Pediatric soft tissue tumor pathology: A happy morpho-molecular union., Seminars in diagnostic pathology, 33, (6), 2016, p377-395Journal Article, 2016, DOI
• Harvey H, Piskareva O, Creevey L, Alcock LC, Buckley PG, O'Sullivan MJ, Segura MF, Gallego S, Stallings RL, Bray IM., Modulation of chemotherapeutic drug resistance in neuroblastoma SK-N-AS cells by the neural apoptosis inhibitory protein and miR-520f., International journal of cancer, 136, (7), 2015, p1579-1588Journal Article, 2015, DOI
• Wegert J, Ishaque N, Vardapour R, Geörg C, Gu Z, Bieg M, Ziegler B, Bausenwein S, Nourkami N, Ludwig N, Keller A, Grimm C, Kneitz S, Williams RD, Chagtai T, Pritchard-Jones K, van Sluis P, Volckmann R, Koster J, Versteeg R, Acha T, O'Sullivan MJ, Bode PK, Niggli F, Tytgat GA, van Tinteren H, van den Heuvel-Eibrink MM, Meese E, Vokuhl C, Leuschner I, Graf N, Eils R, Pfister SM, Kool M, Gessler M., Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors., Cancer cell, 27, (2), 2015, p298-311Journal Article, 2015, DOI
• Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW., A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency., Human genetics, 134, (8), 2015, p869-879Journal Article, 2015, DOI
• Kelly LC, Lázaro A, O'Sullivan MJ., What Do We Know about the Role of miRNAs in Pediatric Sarcoma?, International journal of molecular sciences, 16, (7), 2015, p16593-16621Journal Article, 2015, DOI
• Yoshimi A, van den Heuvel-Eibrink MM, Baumann I, Schwarz S, Simonitsch-Klupp I, de Paepe P, Campr V, Kerndrup GB, O'Sullivan M, Devito R, Leguit R, Hernandez M, Dworzak M, de Moerloose B, Stary J, Hasle H, Smith OP, Zecca M, Catala A, Schmugge M, Locatelli F, Führer M, Fischer A, Guderle A, Nöllke P, Strahm B, Niemeyer CM., Comparison of horse and rabbit antithymocyte globulin in immunosuppressive therapy for refractory cytopenia of childhood., Haematologica, 99, (4), 2014, p656-663Journal Article, 2014, DOI
• Karlsson J, Holmquist Mengelbier L, Ciornei CD, Naranjo A, O'Sullivan MJ, Gisselsson D., Clear cell sarcoma of the kidney demonstrates an embryonic signature indicative of a primitive nephrogenic origin., Genes, chromosomes & cancer, 53, (5), 2014, p381-391Journal Article, 2014, DOI
• Lynn M, Shah N, Conroy J, Ennis S, Morris T, Betts D, O'Sullivan M., A study of alveolar rhabdomyosarcoma copy number alterations by single nucleotide polymorphism analysis., Applied immunohistochemistry & molecular morphology : AIMM, 22, (3), 2014, p213-221Journal Article, 2014, DOI
• O'Meara E, Stack D, Phelan S, McDonagh N, Kelly L, Sciot R, Debiec-Rychter M, Morris T, Cochrane D, Sorensen P, O'Sullivan MJ., Identification of an MLL4-GPS2 fusion as an oncogenic driver of undifferentiated spindle cell sarcoma in a child., Genes, chromosomes & cancer, 53, (12), 2014, p991-998Journal Article, 2014, DOI
• Tareen F, McDowell DT, O'Sullivan M, Mortell A., Urachal carcinoid--a new presentation., European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, 23, (3), 2013, pe1-2Journal Article, 2013, DOI
• Killian JK, Kim SY, Miettinen M, Smith C, Merino M, Tsokos M, Quezado M, Smith WI, Jahromi MS, Xekouki P, Szarek E, Walker RL, Lasota J, Raffeld M, Klotzle B, Wang Z, Jones L, Zhu Y, Wang Y, Waterfall JJ, O'Sullivan MJ, Bibikova M, Pacak K, Stratakis C, Janeway KA, Schiffman JD, Fan JB, Helman L, Meltzer PS., Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor., Cancer discovery, 3, (6), 2013, p648-657Journal Article, 2013, DOI
• Fam HK, Walton C, Mitra SA, Chowdhury M, Osborne N, Choi K, Sun G, Wong PC, O'Sullivan MJ, Turashvili G, Aparicio S, Triche TJ, Bond M, Pallen CJ, Boerkoel CF., TDP1 and PARP1 deficiency are cytotoxic to rhabdomyosarcoma cells., Molecular cancer research : MCR, 11, (10), 2013, p1179-1192Journal Article, 2013, DOI
• Trayer J, Browne F, O'Sullivan M, Leahy TR., Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome., Journal of clinical immunology, 43, (7), 2023, p1537-1539Journal Article, 2023, DOI
• Hannon Barroeta, P. and O†Sullivan, M.J. and Zisterer, D.M., The role of the Nrf2/GSH antioxidant system in cisplatin resistance in malignant rhabdoid tumours, Journal of Cancer Research and Clinical Oncology, 149, (11), 2023, p8379-8391Journal Article, 2023, DOI , URL
• , Fibroma of the peroneus longus tendon sheath in a child: a case report, Journal of orthopaedic surgery (Hong Kong), 2013Journal Article, 2013, DOI
• , Persistent complete response after single-agent sunitinib treatment in a case of TFE translocation positive relapsed metastatic pediatric renal cell carcinoma, Journal of pediatric hematology/oncology, 2013Journal Article, 2013, DOI
• , 17th Meeting of the Irish Society of Human Genetics, Friday 5th September 2014.: Trinity Centre for Health Sciences, St James's Hospital, Dublin, The Ulster medical journal, 2014Journal Article, 2014
• , Low-grade fibrosarcoma (hyalinizing spindle cell tumor with giant rosettes) with pulmonary metastases at presentation: case report and review of the literature, International journal of surgical pathology, 2002Journal Article, 2002, DOI
• , Practical application of molecular genetic testing as an aid to the surgical pathologic diagnosis of sarcomas: a prospective study, The American journal of surgical pathology, 2002Journal Article, 2002, DOI
• , Histopathological characterization of small cell osteosarcoma with immunohistochemistry and molecular genetic support. A study of 10 cases, Histopathology, 2010Journal Article, 2010, DOI
• , Multiple gastric stromal tumors in a child without syndromic association lacks common KIT or PDGFRalpha mutations, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2005Journal Article, 2005, DOI
• , Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV, The Journal of molecular diagnostics : JMD, 2007Journal Article, 2007, DOI
• , Familial adenomatous polyposis: from bedside to benchside, American journal of clinical pathology, 1998Journal Article, 1998, DOI
• Perotti D, Williams RD, Wegert J, Brzezinski J, Maschietto M, Ciceri S, Gisselsson D, Gadd S, Walz AL, Furtwaengler R, Drost J, Al-Saadi R, Pritchard-Jones K, Hallmark discoveries in the biology of Wilms tumour., Nature reviews. Urology, 2023Journal Article, 2023, DOI
• Hayes BD, O'Sullivan MJ, Intranodal hybrid benign nerve sheath tumor., Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 14, (4), 2011, p313-7Journal Article, 2011
• "Cytogenetics and Molecular Genetics" [chapter 5] in, editor(s)Orkin, Fisher, Look, Lux, Ginsburg and Nathan (Eds). "Oncology of Infancy and Childhood" 1st Edition 2009. Revisions for 2nd Edition now in progress. , Oncology and Hematology of Infancy and Childhood, China, Saunders, an imprint of Elsevier Inc., 2009, pp99 - 171, [O'Sullivan MJ; Fletcher JA and Felix CA.]Book Chapter, 2009
• Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S, Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation., American journal of human genetics, 92, (1), 2013, p131-6Journal Article, 2013, DOI , TARA - Full Text
• Oudijk L, Gaal J, Korpershoek E, van Nederveen FH, Kelly L, Schiavon G, Verweij J, Mathijssen RH, den Bakker MA, Oldenburg RA, van Loon RL, O'Sullivan MJ, de Krijger RR, Dinjens WN, SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors., Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 26, (3), 2013, p456-63Journal Article, 2013
• Conlon N, Teoh CW, Pears J, O'Sullivan M, Bilateral botryoid nephroblastoma: a rare cause of renal failure., BMJ case reports, 2012, 2012Journal Article, 2012
• Watson JA, Bryan K, Williams R, Popov S, Vujanic G, Coulomb A, Boccon-Gibod L, Graf N, Pritchard-Jones K, O'Sullivan M, miRNA profiles as a predictor of chemoresponsiveness in Wilms' tumor blastema., PloS one, 8, (1), 2013, pe53417Journal Article, 2013, DOI , TARA - Full Text
• O'Meara E, Stack D, Lee CH, Garvin AJ, Morris T, Argani P, Han JS, Karlsson J, Gisselson D, Leuschner I, Gessler M, Graf N, Fletcher JA, O'Sullivan MJ, Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney., The Journal of pathology, 227, (1), 2012, p72-80Journal Article, 2012
• Howley S, Stack D, Morris T, McDermott M, Capra M, Betts D, O'Sullivan MJ, Ectomesenchymoma with t(1;12)(p32;p13) evolving from embryonal rhabdomyosarcoma shows no rearrangement of ETV6., Human pathology, 43, (2), 2012, p299-302Journal Article, 2012, DOI , URL
• McDowell DT, Nguyen T, O'Sullivan MJ, Corbally M, When is a scrotal swelling not a scrotal swelling?, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie, 21, (5), 2011, p342-3Journal Article, 2011
• Lockwood WW, Stack D, Morris T, Grehan D, O'Keane C, Stewart GL, Cumiskey J, Lam WL, Squire JA, Thomas DM, O'Sullivan MJ, Cyclin E1 is amplified and overexpressed in osteosarcoma., The Journal of molecular diagnostics : JMD, 13, (3), 2011, p289-96Journal Article, 2011
• Rizkalla H, Wildgrove H, Quinn F, Capra M, O'Sullivan MJ, Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review., Fetal and pediatric pathology, 30, (3), 2011, p156-60Journal Article, 2011, DOI
• Teo M, Crotty P, O'Sullivan M, French CA, Walshe JM, NUT midline carcinoma in a young woman., Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 29, (12), 2011, pe336-9Journal Article, 2011
• Gaal J, Stratakis CA, Carney JA, Ball ER, Korpershoek E, Lodish MB, Levy I, Xekouki P, van Nederveen FH, den Bakker MA, O'Sullivan M, Dinjens WN, de Krijger RR, SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors., Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 24, (1), 2011, p147-51Journal Article, 2011
• Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T, The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers., PLoS genetics, 6, (6), 2010, pe1000992Journal Article, 2010
• Foley NH, Bray IM, Tivnan A, Bryan K, Murphy DM, Buckley PG, Ryan J, O'Meara A, O'Sullivan M, Stallings RL, MicroRNA-184 inhibits neuroblastoma cell survival through targeting the serine/threonine kinase AKT2., Molecular cancer, 9, 2010, p83Journal Article, 2010
• Chan JC, Sullivan PJ, O'Sullivan MJ, Eadie PA, Full thickness burn caused by exposure to giant hogweed: delayed presentation, histological features and surgical management., Journal of plastic, reconstructive & aesthetic surgery : JPRAS, 64, (1), 2011, p128-30Journal Article, 2011
• Bray I, Bryan K, Prenter S, Buckley PG, Foley NH, Murphy DM, Alcock L, Mestdagh P, Vandesompele J, Speleman F, London WB, McGrady PW, Higgins DG, O'Meara A, O'Sullivan M, Stallings RL, Widespread dysregulation of MiRNAs by MYCN amplification and chromosomal imbalances in neuroblastoma: association of miRNA expression with survival., PloS one, 4, (11), 2009, pe7850Journal Article, 2009
• Sargent J, O'Marcaigh A, Smith O, Butler K, Gavin P, O'Sullivan M, Candida albicans-associated necrotizing vasculitis producing life-threatening gastrointestinal hemorrhage., Human pathology, 41, (4), 2010, p602-4Journal Article, 2010
• O'Sullivan MJ, Gastrointestinal stromal tumors., Pediatric surgery international, 25, (10), 2009, p841-50Journal Article, 2009
• M Lynn, Y Wang, J Slater, N Shah, J Conroy, S Ennis, T Morris, D R. Betts, JA. Fletcher, M J O' Sullivan. , High-Resolution Genome-Wide Copy Number Analyses Identifies Localized Copy-Number Alterations in Ewing Sarcoma., Diagnostic Molecular Pathology, 2012Journal Article, 2012
• Janeway, KA; Kim, SY; Lodish, M; Nose, V; Rustin, P; Gaal, J; Dahia, P; Liegl, B; Ball, ER; Raygada, M; Lai, A; Kelly, L Hornick, J; O'Sullivan, M; de Krijger RR, Dinjens WN, Demetri, GD; Antonescu, C; Fletcher, JA; Helman, L and Stratakis, CA., Defects in succinate dehydrogenase in gastrointestinal stromal tumors without KIT and PDFGRA mutations, Proc Natl Acad Sci U S A, 108, (1), 2011, p314 - 318Journal Article, 2011
• Curry S, Ibrahim F, Grehan D, McDermott MB, Capra M, Betts D, O'Sullivan M., Rhabdomyosarcoma-associated renal cell carcinoma - A link with constitutional TP53 mutation. , Pediatr Dev Pathol. , 14, (3), 2010, p248 - 251Journal Article, 2010, DOI
• Mulligan L, Nosherwan A, Hayes R, Pears J, McDermott MB, O'Sullivan M, Wilms Tumor arising in extra-coelomic paravertebral soft tissues., Pediatr Dev Pathol, 2010Journal Article, 2010
• Kevin K; Storey L; O' Sullivan M; Butler K; McDermott M; Corbally M; McMahon C; Smith O P; O' Marcaigh A., Esophageal strictures during treatment for acute lymphoblastic leukemia, Journal of Pediatric Hematology / Oncology., 32, (2), 2010, p124 - 127Journal Article, 2010
• Viswanathan SR, Powers JT, Einhorn W, Hoshida Y, Ng TL, Toffanin S, O'Sullivan M, Lu J, Phillips LA, Lockhart VL, Shah SP, Tanwar PS, Mermel CH, Beroukhim R, Azam M, Teixeira J, Meyerson M, Hughes TP, Llovet JM, Radich J, Mullighan CG, Golub TR, Sorensen PH, Daley GQ., Lin28 promotes transformation and is associated with advanced human malignancies. , Nat Genet, 1, (7), 2009, p843 - 848Journal Article, 2009
• Weidinger S, O'Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, McLean WH, von Mutius E, Irvine AD, Kabesch M. J, Filaggrin mutations, atopic eczema, hay fever, and asthma in children, Allergy Clin Immunol. , 121, (5), 2008, p1203 - 1209Journal Article, 2008
• Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W., Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome. , Clin Dysmorphol., 17, (3), 2008, p199 - 202Journal Article, 2008
• O'Sullivan, MJ*; Nielsen TO; Hayes M; Pallen C; Sorensen P and Horsman D, Novel translocation t(2;16) producing an in-frame fusion of FUS and FEV in an Ewing family tumour. Ng, T*;, Journal of Molecular Diagnostics, 9, (4), 2007, p459 - 463Journal Article, 2007
• Zhang, L; Anglesio, MS; O'Sullivan, MJ; Zhang, F; Yang, G; Sarao, R; Nghien, M; Cronin, S; Hara, H; Arya, S; Wada, T; Liu, PP; Sorensen, PHB; Penninger, JM. , The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers., Nature Medicine, 13, (9), 2007, p1060 - 1069Journal Article, 2007
• O'Sullivan, MJ; McCabe, A; Gillett, P; Penman, I; MacKinlay, G A; Pritchard, J. , Multiple Gastric Stromal Tumours in a Child without Syndromic Association and Lacking Common KIT or PDGFRα Mutations. , Pediatr. Devel. Pathol,, 8, (6), 2005, p685 - 689Journal Article, 2005
• Arestis NJ; Clark, C; Munro, FD; Micallef, C; O'Sullivan, MJ. , Congenital Pouch Colon Associated with Anorectal Agenesis: A Case Report and Review of the Literature, Pediatr. Devel. Pathol, , 8, (6), 2005, p701 - 705Journal Article, 2005
• M O'Sullivan, V Budhraja, Y Sadovsky, and JD. Pfeifer., Tumor heterogeneity affects the precision of microarray analysis., Diagn. Mol. Pathol, , 14, (2), 2005, p65 - 71Journal Article, 2005
• Murphy A, Stallings RL, Howard J, O'Sullivan M, Hayes R, Breatnach F, McDermott MB., Primary Desmoplastic Small Round Cell Tumour of Bone: Report of a Case with Cytogenetic Confirmation. , Cancer Genet Cytogenet,, 156, (2), 2005, p167 - 71Journal Article, 2005
• Plowman SJ, Williamson DJ, O'Sullivan MJ, Doig J, Ritchie AM, Harrison DJ, Melton DW, Arends MJ, Hooper ML, Patek CE., While K-ras is essential for mouse development, expression of the K-ras 4A splice variant is dispensable. , Mol Cell Biol., 23, (24), 2003, p9245 - 9250Journal Article, 2003
• Miles CG, Slight J, Spraggon L, O'Sullivan M, Patek C, Hastie ND. , Mice lacking the 68-amino-acid, mammal-specific N-terminal extension of WT1 develop normally and are fertile., Mol Cell Biol., 23, (7), 2003, p2608 - 2613Journal Article, 2003
• C. Harrison, A-M. Ketchen , N. J. Redhead, M. J. O'Sullivan and D. W. Melton. , Replication failure, apoptosis, genome instability and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene, Cancer Res, 62, (14), 2002, p4065 - 4074Journal Article, 2002
• M.J. O'Sullivan, P.A. Humphrey, L.P. Dehner, and J.D. Pfeifer. , t(X;18) Reverse Transcriptase-Polymerase Chain Reaction Demonstrating a Variant Transcript., J Mol Diagn. , 4, (3), 2002, p178 - 180Journal Article, 2002
• D.A. Hill; M.J. O'Sullivan; X. Zhu; R.T. Vollmer; P.A. Humphrey; L.P. Dehner; J.D. Pfeifer. Am , Practical Application of Molecular Genetic Testing as an Aid to the Surgical Pathologic Diagnosis of Soft Tissue Neoplasms: A Prospective Study., J Surg Pathol,, 26, (8), 2002, p965 - 977Journal Article, 2002
• M.J. O'Sullivan; P.E. Swanson; J. Knoll; E.M. Taboada and L.P. Dehner., Undifferentiated Embryonal Sarcoma with unusual Features arising within Mesenchymal Hamartoma of the Liver - Report of a Case and Review of the Literature. , Pediatr Devel Pathol, , 4, (5), 2001, p482 - 489Journal Article, 2001
• O'Sullivan M.J., Perlman E.J., Furman J., Humphrey P.A., Dehner L.P., Pfeifer, J.D., Visceral primitive peripheral neuroectodermal tumors - a clinicopathologic and molecular study. , Hum Pathol,, 32, 2001, p1109 - 1115Journal Article, 2001
• M.J. O'Sullivan, MD, J.S. Rader, MD, D.S. Gerhard, Y. Li, MD, K.M.Trinkaus, D.J. Gersell, MD, P.C. Huettner, MD , Loss of Heterozygosity at 11q23.3 in Vasculo-invasive and Metastatic Squamous Cell Carcinoma of the Cervix., Hum Pathol,, 32, (5), 2001, p475 - 478Journal Article, 2001
• MJ. O'Sullivan; KE. Sirgi and LP. Dehner., Hyalinizing Spindle Cell Tumor with Giant Rosettes with Extensive Pulmonary Metastases - A Case Report and Review of the Literature. , Int J Surg Pathol,, 10, (3), 2000, p211 - 216Journal Article, 2000
• J.D. Pfeifer, D.A. Hill, M.J. O'Sullivan and L.P Dehner., Diagnostic Gold Standard in Soft Tissue Tumors: Morphology or Molecular Genetics? , Histopathol, 37, (6), 2000, p485 - 500Journal Article, 2000
• M.J. O'Sullivan, M. Kyriakos, X. Zhu, M.R. Wick, P.E. Swanson, L.P. Dehner, P.A. Humphrey and J.D. Pfeifer. , Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study, Mod. Pathol.,, 13, 2000, p1336 - 1346Journal Article, 2000
• O'Sullivan, M.J., Kaleem, Z., Bolger, M., Swanson, P. E. and Zutter, M., Composite Prolymphocytoid and Hodgkin Transformation of Chronic Lymphocytic Leukemia., Arch. Pathol. Lab. Med.,, 124, 2000, p907 - 909Journal Article, 2000
• O Suilleabhain, C.B., Ryder, D., Marks, C.J., Keohane, C. and O'Sullivan, M.J. , Solitary Intracranial Myofibroma in a Child. , JNNP, 1999, p253 - 254Journal Article, 1999
• O'Sullivan, M.J., Ball, R.H., McAllister, W., Teitelbaum, S., Swanson, P.E., Dehner, L.P. , Morphologic Observations of a case of Lethal Variant (Type I) Metatropic Dysplasia with atypical features., Pediatr Devel Pathol,, 1, (5), 1998, p405 - 412Journal Article, 1998
• Rader, J.S., Gerhard, D.S., O'Sullivan, M.J., Li, Y., Li, L. Liapis, H. and Huettner, P.C. , Cervical Intraepithelial Neoplasia III shows frequent Allelic Loss in 3p and 6p., Genes, Chromosomes and Cancer,, 22, 1998, p57 - 65Journal Article, 1998
• O'Sullivan, M.J., Ritter, J.H., Humphrey, P.A. and Wick, M.R., Lymphoid Lesions of the Gastrointestinal Tract -A Histological, Immunophenotypic and Genotypic Analysis of 49 Cases. , Am.J.Clin.Pathol., 110, (4), 1998, p471 - 477Journal Article, 1998
• Familial Adenomatous Polyposis from bedside to benchside. , O'Sullivan, M.J., McCarthy, T.V. and Doyle, C.T.: , Am.J.Clin.Pathol.,, 109, (5), 1998, p521 - 526Journal Article, 1998
• O'Sullivan, M.J., Mulcahy, T., Cambell, J., O Suilleabhain, C.B., Kirwan, W.O., Doyle, C.T. and McCarthy, T.V.,, Detection of five novel germline mutations in the APC gene in Irish Familial Adenomatous Polyposis Pedigrees., Human Mutation, , 11, 1998, p251 - 253Journal Article, 1998
• O'Sullivan, M.J., Mulcahy, T., O Suilleabhain, C.B., Kirwan W.O., Doyle, C.T. and McCarthy, T.V. , Adenomatous polyposis coli gene mutations in Irish pedigrees with familial adenomatous polyposis. , Biochem. Soc. Transactions,, 23, (2), 1995Journal Article, 1995
• The Influence of some perinatal factors on neonatal blood pressure. , O'Sullivan, M.J., Kearney, P.J. & Crowley, M.J, Acta Paed., 85, 1996, p849 - 853Journal Article, 1996
• O'Sullivan, M.J., Kearney, P.J. & Crowley, M., Reliability of Blood Pressure Readings in Infancy., Irish Medical Journal,, 86, (5), 1993, p171-Journal Article, 1993
• Lynn M, Wang Y, Slater J, Shah N, Conroy J, Ennis S, Morris T, Betts DR, Fletcher JA, O'Sullivan MJ, High-resolution Genome-wide Copy-number Analyses Identify Localized Copy-number Alterations in Ewing Sarcoma., Diagnostic molecular pathology : the American journal of surgical pathology, part B, 22, (2), 2013, p76-84Journal Article, 2013
• Kelly,Lorna L., Bryan,Kenneth K., Kim,Suyoung S., Janeway,Katherine A. K.A., Killian,Jonathan Keith J.K., Schildhaus,Hans Ulrich H.U., Miettinen,Markku M A M.M.A., Helman,Lee J R F L.J.R.F., Meltzer,Paul S. P.S., Van De Rijn,Matt M., DÈ©biec-Rychter,Maria M., O'Sullivan,Maureen J. M.J., Post-Transcriptional Dysregulation by miRNAs Is Implicated in the Pathogenesis of Gastrointestinal Stromal Tumor [GIST], PLoS ONE, 8, (5), 2013Journal Article, 2013, DOI , TARA - Full Text

Genetics, Cancer, Medical, health and life sciences,

• Childrens Cancer Fund Young Investigator Award, August, 2005.
• BC Research Institute for Childrens & Womens Health, Establishment Award, 2004-7.
• NUI Travelling Studentship in Pathology Prize, Dublin, September, 1997
• University Entrance Scholarship, University College Cork.
• British Paediatric Association Bursary, 1992
• Best presentation award, European Workshop for the Cytogenetics and Molecular Genetics of Solid Tumors, Nijmegen, The Netherlands, June 2010.
• SPP (Society for Pediatric Pathology) Young Investigator Award, February 2005.

• Member Society for Pediatric Pathology
• Member, SIOP Renal Tumor Study Group.
• Member, National Institutes of Health [NIH] Pediatric and Wild-type GIST Clinic
• Member, American Association for Cancer Research.
• Member, Connective Tissue Oncology Society.
• Member, Societe Internationale d'Oncologie Paediatrique [SIOP].
• Member, Paediatric Pathology Society
• Member Royal College of Physicians of Ireland
• Member International Paediatric Pathology Association
• Fellow, The Royal College of Pathologists of Great Britain and Ireland.