Professor Maureen J O'Sullivan
CONSULTANT PAEDIATRIC PATHOLOGIST/CLINIC, Paediatrics
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
O'Sullivan M., Pediatric soft tissue tumor pathology: A happy morpho-molecular union., Seminars in diagnostic pathology, 33, (6), 2016, p377-395
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
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
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
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
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
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
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
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
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
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
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
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
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
McHugh J, Storey L, Bacon L, O'Marcaigh A, O'Sullivan M, Smith O, Paediatric follicular lymphoma., 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
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
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
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
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
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
Conlon N, Teoh CW, Pears J, O'Sullivan M, Bilateral botryoid nephroblastoma: a rare cause of renal failure., BMJ case reports, 2012, 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
"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.]
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
O'Sullivan MJ, Gastrointestinal stromal tumors., Pediatric surgery international, 25, (10), 2009, p841-50
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
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
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
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
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
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
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
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
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
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
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
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
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
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., 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, 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
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
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
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
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
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., 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
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., 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
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-
Recognition
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.
Memberships
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