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Professor Maureen J O'Sullivan
Clinical Professor, Histopathology

Publications and Further Research Outputs

Peer-Reviewed Publications

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, pe003746 Journal Article, 2023 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), 2022 Journal Article, 2022 DOI

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, 2022 Journal Article, 2022 DOI

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), 2022 Journal Article, 2022 DOI

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, p142-143 Journal 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, p2509-2521 Journal 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, p1806-1817 Journal 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., Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes., Nature medicine, 27, (12), 2021, p2248 Journal Article, 2021 DOI

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), 2021 Journal 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, p1995-1999 Journal Article, 2021 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, p77-87 Journal 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, pe136 Journal Article, 2020 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, p345-351 Journal Article, 2020 DOI

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, 2020 Journal Article, 2020 URL TARA - Full Text DOI

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, p191-202 Journal Article, 2019 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, p169-178 Journal Article, 2018 DOI

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 - 345 Journal Article, 2018 DOI

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, p650-653 Journal Article, 2017 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, p130-135 Journal Article, 2017 DOI

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, p304-307 Journal Article, 2016 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, p663-668 Journal Article, 2016 DOI

O'Sullivan M., Pediatric soft tissue tumor pathology: A happy morpho-molecular union., Seminars in diagnostic pathology, 33, (6), 2016, p377-395 Journal 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, p143-147 Journal 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, p11127-11136 Journal 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, p3195-3203 Journal 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, p114-120 Journal 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, p617-620 Journal 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, p1579-1588 Journal 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, p869-879 Journal 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, p16593-16621 Journal 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, p298-311 Journal Article, 2015 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, p991-998 Journal Article, 2014 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, p656-663 Journal 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, p381-391 Journal Article, 2014 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, p398-402 Journal 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, p213-221 Journal Article, 2014 DOI

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, p456-63 Journal Article, 2013

McHugh J, Storey L, Bacon L, O'Marcaigh A, O'Sullivan M, Smith O, Paediatric follicular lymphoma., 2013 Journal 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), 2013 Journal Article, 2013 DOI TARA - Full Text

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, p648-657 Journal Article, 2013 DOI

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, p76-84 Journal Article, 2013

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, pe53417 Journal Article, 2013 TARA - Full Text 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, p1179-1192 Journal Article, 2013 DOI

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, p131-6 Journal Article, 2013 DOI TARA - Full Text

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, pe1-2 Journal Article, 2013 DOI

Conlon N, Teoh CW, Pears J, O'Sullivan M, Bilateral botryoid nephroblastoma: a rare cause of renal failure., BMJ case reports, 2012, 2012 Journal Article, 2012

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, 2012 Journal Article, 2012

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, p72-80 Journal 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, p299-302 Journal Article, 2012 DOI

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, p342-3 Journal 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, p147-51 Journal Article, 2011

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, p128-30 Journal 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, p156-60 Journal 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, pe336-9 Journal 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, p289-96 Journal Article, 2011

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, p313-7 Journal Article, 2011

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 - 318 Journal Article, 2011

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, p83 Journal Article, 2010

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, 2010 Journal Article, 2010

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, pe1000992 Journal Article, 2010

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 - 251 Journal Article, 2010 DOI

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 - 127 Journal Article, 2010

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, p602-4 Journal Article, 2010

"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

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, pe7850 Journal Article, 2009

O'Sullivan MJ, Gastrointestinal stromal tumors., Pediatric surgery international, 25, (10), 2009, p841-50 Journal Article, 2009

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 - 848 Journal 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 - 1209 Journal 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 - 202 Journal 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 - 463 Journal 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 - 1069 Journal Article, 2007

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 - 705 Journal 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 - 71 Journal 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 - 71 Journal Article, 2005

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 - 689 Journal 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 - 9250 Journal 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 - 2613 Journal 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 - 4074 Journal 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 - 977 Journal 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 - 180 Journal 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 - 489 Journal 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 - 1115 Journal 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 - 478 Journal Article, 2001

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 - 500 Journal 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 - 909 Journal Article, 2000

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 - 216 Journal 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 - 1346 Journal 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 - 254 Journal Article, 1999

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 - 477 Journal 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 - 65 Journal Article, 1998

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 - 412 Journal 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 - 526 Journal 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 - 253 Journal Article, 1998

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 - 853 Journal Article, 1996

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), 1995 Journal Article, 1995

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


Awards and Honours

University Entrance Scholarship, University College Cork.

First Place in Class, Third Medical Year.

British Paediatric Association Bursary, 1992

NUI Travelling Studentship in Pathology Prize, Dublin, September, 1997

ASCP/CAP American Society of Clinical Pathologists/College of American Pathologists, Resident prize, Fall Meeting, 1997. [Short-listed and I withdrew].

INAPS award for best presentation USCAP (US and Canadian Academy of Pathology) meeting, 1999.

BC Research Institute for Children's & Women's Health, Establishment Award, 2004-7.

SPP (Society for Pediatric Pathology) Young Investigator Award, February 2005.

Children's Cancer Fund Young Investigator Award, August, 2005.

Best presentation award, European Workshop for the Cytogenetics and Molecular Genetics of Solid Tumors, Nijmegen, The Netherlands, June 2010.

Best Presentation, International Cancer Conference, TCD, Cancer Genetics Section,September 2011.


Fellow, The Royal College of Pathologists of Great Britain and Ireland.

Member, American Association for Cancer Research.

Member, Societe Internationale d'Oncologie Paediatrique [SIOP].

Member, SIOP Renal Tumor Study Group.

Member, US and Canadian Academy of Pathology.

Member, Connective Tissue Oncology Society.

Member, Paediatric Pathology Society

Member, National Institutes of Health [NIH] Pediatric and Wild-type GIST Clinic