Professor Maureen J O'Sullivan
CONSULTANT PAEDIATRIC PATHOLOGIST/CLINIC, Histopathology
Clinical Professor, Paediatrics
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
O'Sullivan M., Pediatric soft tissue tumor pathology: A happy morpho-molecular union., Seminars in diagnostic pathology, 33, (6), 2016, p377-395
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
McHugh J, Storey L, Bacon L, O'Marcaigh A, O'Sullivan M, Smith O, Paediatric follicular lymphoma., 2013
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
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
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
Conlon N, Teoh CW, Pears J, O'Sullivan M, Bilateral botryoid nephroblastoma: a rare cause of renal failure., BMJ case reports, 2012, 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 - 318
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
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
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
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
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
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
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
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
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
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
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
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
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
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
O'Sullivan MJ, Gastrointestinal stromal tumors., Pediatric surgery international, 25, (10), 2009, p841-50
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
"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.]
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
O'Sullivan, M.J., Kearney, P.J. & Crowley, M., Reliability of Blood Pressure Readings in Infancy., Irish Medical Journal,, 86, (5), 1993, p171-
, Fibroma of the peroneus longus tendon sheath in a child: a case report, Journal of orthopaedic surgery (Hong Kong), 2013
, 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, 2013
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, p1537-1539
Hannon Barroeta, P. and Oâ 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, p8379-8391
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, p182-184
, 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, 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, 2002
, 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, 2002
, Histopathological characterization of small cell osteosarcoma with immunohistochemistry and molecular genetic support. A study of 10 cases, Histopathology, 2010
, 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, 2005
, Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV, The Journal of molecular diagnostics : JMD, 2007
, Familial adenomatous polyposis: from bedside to benchside, American journal of clinical pathology, 1998
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, 2023
Research Expertise
Recognition
Awards and Honours
University Entrance Scholarship, University College Cork.
British Paediatric Association Bursary, 1992
NUI Travelling Studentship in Pathology Prize, Dublin, September, 1997
BC Research Institute for Childrens & Womens Health, Establishment Award, 2004-7.
SPP (Society for Pediatric Pathology) Young Investigator Award, February 2005.
Childrens 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.
Memberships
Fellow, The Royal College of Pathologists of Great Britain and Ireland.
Member Royal College of Physicians of Ireland
Member, Connective Tissue Oncology Society.
Member International Paediatric Pathology Association
Member, Societe Internationale d'Oncologie Paediatrique [SIOP].
Member, SIOP Renal Tumor Study Group.
Member Society for Pediatric Pathology
Member, Paediatric Pathology Society
Member, American Association for Cancer Research.
Member, National Institutes of Health [NIH] Pediatric and Wild-type GIST Clinic