Conjoint Associate Professor

Dr Mark James Cowley

Institution Degree Year Field of Study
UNSW Australia PhD 2008 Bioinformatics, Transcriptomics,
Genetics
University of Sydney BSc (Hons I) 2003 Bioinformatics
Medicine & Health
Sch Women's&Children's Health

 

A/Prof Mark Cowley is a bioinformatician, whose research is focused on improving health outcomes in patients, by developing innovative computational approaches. He predominantly uses Whole Genome Sequencing to understand why patients develop cancer, how to characterise their tumours and identify optimal treatment recommendations. He leads the Computational Biology group at Children's Cancer Institute, and plays a key role in the ambitious Zero Childhood Cancer program, Australia's most comprehensive and advanced precision medicine trial in children and adolescents with high-risk cancer. Mark also has strong expertise in rare disease diagnosis, particularly using genomics.

Phone
0293852074
Location
Level 5, Lowy Cancer Centre (C25)

Publications

  • Journal articles | 2021
    Dr Mark James Cowley
    Dreyer SB; Upstill-Goddard R; Paulus-Hock V; Paris C; Lampraki EM; Dray E; Serrels B; Caligiuri G; Rebus S; Plenker D; Galluzzo Z; Brunton H; Cunningham R; Tesson M; Nourse C; Bailey UM; Jones MD; Moran-Jones K; Wright DW; Duthie F; Oien K; Evers L; McKay CJ; McGregor GA; Gulati A; Brough R; Bajrami I; Pettitt S; Dziubinski ML; Candido J; Balkwill F; Barry ST; Grützmann R; Rahib L; Allison S; Bailey PJ; Biankin AV; Beraldi D; Cameron E; Chang DK; Cooke SL; Grimwood P; Kelly S; Marshall J; Martin S; McDade B; McElroy D; Musgrove EA; Ramsay D; Wright D; Hair J; Jamieson NB; Westwood P; Williams N; Johns AL; Mawson A; Scarlett CJ; Brancato MAL; Rowe SJ; Simpson SH; Martyn-Smith M; Thomas MT; Chantrill LA; Chin VT; Chou A; Cowley MJ; Humphris JL; Mead RS; Nagrial AM; Pajic M; Pettit J; Pinese M; Rooman I; Wu J; Tao J; DiPietro R; Watson C; Steinmann A; Lee HC; Wong R; Pinho AV; Giry-Laterriere M; Daly RJ; Sutherland RL; Grimmond SM; Waddell N; Kassahn KS; Miller DK; Wilson PJ; Patch AM; Song S; Harliwong I; Idrisoglu S; Nourbakhsh E; Manning S; Wani S; Gongora M; Anderson M; Holmes O; Leonard C, 2021, 'Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer', Gastroenterology, vol. 160, pp. 362 - 377.e13, http://dx.doi.org/10.1053/j.gastro.2020.09.043
    Journal articles | 2021
    Dr Mark James Cowley
    Rius R; Compton AG; Baker NL; Welch AE; Coman D; Kava MP; Minoche AE; Cowley MJ; Thorburn DR; Christodoulou J, 2021, 'Application of genome sequencing from blood to diagnose mitochondrial diseases', Genes, vol. 12, pp. 607 - 607, http://dx.doi.org/10.3390/genes12040607
    Journal articles | 2021
    Dr Mark James Cowley
    Mallawaarachchi AC; Lundie B; Hort Y; Schonrock N; Senum SR; Gayevskiy V; Minoche AE; Hollway G; Ohnesorg T; Hinchcliffe M; Patel C; Tchan M; Mallett A; Dinger ME; Rangan G; Cowley MJ; Harris PC; Burnett L; Shine J; Furlong TJ, 2021, 'Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing', European Journal of Human Genetics, vol. 29, pp. 760 - 770, http://dx.doi.org/10.1038/s41431-020-00796-4
    Journal articles | 2021
    Dr Mark James Cowley
    Chen J; Nelson C; Wong M; Tee AE; Liu PY; La T; Fletcher JI; Kamili A; Mayoh C; Bartenhagen C; Trahair TN; Xu N; Jayatilleke N; Wong M; Peng H; Atmadibrata B; Cheung BB; Lan Q; Bryan TM; Mestdagh P; Vandesompele J; Combaret V; Boeva V; Wang JY; Janoueix-Lerosey I; Cowley MJ; MacKenzie KL; Dolnikov A; Li J; Polly P; Marshall GM; Reddel RR; Norris MD; Haber M; Fischer M; Zhang XD; Pickett HA; Liu T, 2021, 'Targeted therapy of TERT-rearranged neuroblastoma with BET bromodomain inhibitor and proteasome inhibitor combination therapy', Clinical Cancer Research, vol. 27, pp. 1438 - 1451, http://dx.doi.org/10.1158/1078-0432.CCR-20-3044
    Journal articles | 2021
    Dr Mark James Cowley
    Ma A; Grigg JR; Flaherty M; Smith J; Minoche AE; Cowley MJ; Nash BM; Ho G; Gayagay T; Lai T; Farnsworth E; Hackett EL; Slater K; Wong K; Holman KJ; Jenkins G; Cheng A; Martin F; Brown NJ; Leighton SE; Amor DJ; Goel H; Dinger ME; Bennetts B; Jamieson RV, 2021, 'Genome sequencing in congenital cataracts improves diagnostic yield', Human Mutation, http://dx.doi.org/10.1002/humu.24240
    Journal articles | 2021
    Dr Mark James Cowley
    Frazier AE; Compton AG; Kishita Y; Hock DH; Welch AME; Amarasekera SSC; Rius R; Formosa LE; Imai-Okazaki A; Francis D; Wang M; Lake NJ; Tregoning S; Jabbari JS; Lucattini A; Nitta KR; Ohtake A; Murayama K; Amor DJ; McGillivray G; Wong FY; van der Knaap MS; Vermeulen RJ; Wiltshire EJ; Fletcher JM; Lewis B; Baynam G; Ellaway C; Balasubramaniam S; Bhattacharya K; Freckmann ML; Arbuckle S; Rodriguez M; Taft RJ; Sadedin S; Cowley MJ; Minoche AE; Calvo SE; Mootha VK; Ryan MT; Okazaki Y; Stroud DA; Simons C; Christodoulou J; Thorburn DR, 2021, 'Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus', Med, vol. 2, pp. 49 - 73.e10, http://dx.doi.org/10.1016/j.medj.2020.06.004
    Journal articles | 2021
    Dr Mark James Cowley
    Gamble LD; Purgato S; Henderson MJ; Di Giacomo S; Russell AJ; Pigini P; Murray J; Valli E; Milazzo G; Giorgi FM; Cowley M; Ashton LJ; Bhalshankar J; Schleiermacher G; Rihani A; Van Maerken T; Vandesompele J; Speleman F; Versteeg R; Koster J; Eggert A; Noguera R; Stallings RL; Tonini GP; Fong K; Vaksman Z; Diskin SJ; Maris JM; London WB; Marshall GM; Ziegler DS; Hogarty MD; Perini G; Norris MD; Haber M, 2021, 'A g316a polymorphism in the ornithine decarboxylase gene promoter modulates mycn‐driven childhood neuroblastoma', Cancers, vol. 13, http://dx.doi.org/10.3390/cancers13081807
    Journal articles | 2021
    Dr Mark James Cowley
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, vol. 13, http://dx.doi.org/10.1186/s13073-021-00841-x
    Journal articles | 2021
    Dr Mark James Cowley
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, vol. 96, pp. e1770 - e1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2021
    Dr Mark James Cowley
    Nagabushan S; Lau LMS; Barahona P; Wong M; Sherstyuk A; Marshall GM; Tyrrell V; Wegner EA; Ekert PG; Cowley MJ; Mayoh C; Trahair TN; Crowe P; Anazodo A; Ziegler DS, 2021, 'Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor', NPJ PRECISION ONCOLOGY, vol. 5, http://dx.doi.org/10.1038/s41698-021-00145-8
    Journal articles | 2021
    Dr Mark James Cowley
    Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, vol. 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207
    Journal articles | 2021
    Dr Mark James Cowley
    Frederico IKS; Mesbah Ardakani N; Ryan AL; Cowley MJ; Wood BA, 2021, 'Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement.', Am J Dermatopathol, http://dx.doi.org/10.1097/DAD.0000000000001972
    Journal articles | 2020
    Dr Mark James Cowley
    Brunton H; Caligiuri G; Cunningham R; Upstill-Goddard R; Bailey UM; Garner IM; Nourse C; Dreyer S; Jones M; Moran-Jones K; Wright DW; Paulus-Hock V; Nixon C; Thomson G; Jamieson NB; McGregor GA; Evers L; McKay CJ; Gulati A; Brough R; Bajrami I; Pettitt SJ; Dziubinski ML; Barry ST; Grützmann R; Brown R; Curry E; Allison S; Biankin AV; Chang DK; Cooke SL; Grimwood P; Kelly S; Marshall J; McDade B; McElroy D; Ramsay D; Rebus S; Hair J; Westwood P; Williams N; Duthie F; Johns AL; Mawson A; Scarlett CJ; Brancato MAL; Rowe SJ; Simpson SH; Martyn-Smith M; Thomas MT; Chantrill LA; Chin VT; Chou A; Cowley MJ; Humphris JL; Mead RS; Nagrial AM; Pajic M; Pettit J; Pinese M; Rooman I; Wu J; Tao J; DiPietro R; Watson C; Steinmann A; Lee HC; Wong R; Pinho AV; Giry-Laterriere M; Daly RJ; Musgrove EA; Sutherland RL; Grimmond SM; Waddell N; Kassahn KS; Miller DK; Wilson PJ; Patch AM; Song S; Harliwong I; Idrisoglu S; Nourbakhsh E; Manning S; Wani S; Gongora M; Anderson M; Holmes O; Leonard C; Taylor D; Wood S; Xu C; Nones K; Fink JL; Christ A; Bruxner T; Cloonan N; Newell F; Pearson JV; Quinn M, 2020, 'HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer', Cell Reports, vol. 31, http://dx.doi.org/10.1016/j.celrep.2020.107625
    Journal articles | 2020
    Dr Mark James Cowley
    Dreyer SB; Pinese M; Jamieson NB; Scarlett CJ; Colvin EK; Pajic M; Johns AL; Humphris JL; Wu J; Cowley MJ; Chou A; Nagrial AM; Chantrill L; Chin VT; Jones MD; Moran-Jones K; Carter CR; Dickson EJ; Samra JS; Merrett ND; Gill AJ; Kench JG; Duthie F; Miller DK; Cooke S; Aust D; Knösel T; Rümmele P; Grützmann R; Pilarsky C; Nguyen NQ; Musgrove EA; Bailey PJ; McKay CJ; Biankin AV; Chang DK, 2020, 'Precision Oncology in Surgery: Patient Selection for Operable Pancreatic Cancer', Annals of surgery, vol. 272, pp. 366 - 376, http://dx.doi.org/10.1097/SLA.0000000000003143
    Journal articles | 2020
    Dr Mark James Cowley
    Riley LG; Cowley MJ; Gayevskiy V; Minoche AE; Puttick C; Thorburn DR; Rius R; Compton AG; Menezes MJ; Bhattacharya K; Coman D; Ellaway C; Alexander IE; Adams L; Kava M; Robinson J; Sue CM; Balasubramaniam S; Christodoulou J, 2020, 'The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease', Genetics in Medicine, vol. 22, pp. 1254 - 1261, http://dx.doi.org/10.1038/s41436-020-0793-6
    Journal articles | 2020
    Dr Mark James Cowley
    Cipponi A; Goode DL; Bedo J; McCabe MJ; Pajic M; Croucher DR; Rajal AG; Junankar SR; Saunders DN; Lobachevsky P; Papenfuss AT; Nessem D; Nobis M; Warren SC; Timpson P; Cowley M; Vargas AC; Qiu MR; Generali DG; Keerthikumar S; Nguyen U; Corcoran NM; Long GV; Blay J-Y; Thomas DM; McCabe M, 2020, 'MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer', Science
    Journal articles | 2020
    Dr Mark James Cowley
    Wong M; Mayoh C; Lau LMS; Khuong-Quang DA; Pinese M; Kumar A; Barahona P; Wilkie EE; Sullivan P; Bowen-James R; Syed M; Martincorena I; Abascal F; Sherstyuk A; Bolanos NA; Baber J; Priestley P; Dolman MEM; Fleuren EDG; Gauthier ME; Mould EVA; Gayevskiy V; Gifford AJ; Grebert-Wade D; Strong PA; Manouvrier E; Warby M; Thomas DM; Kirk J; Tucker K; O’Brien T; Alvaro F; McCowage GB; Dalla-Pozza L; Gottardo NG; Tapp H; Wood P; Khaw SL; Hansford JR; Moore AS; Norris MD; Trahair TN; Lock RB; Tyrrell V; Haber M; Marshall GM; Ziegler DS; Ekert PG; Cowley MJ, 2020, 'Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer', Nature Medicine, vol. 26, pp. 1742 - 1753, http://dx.doi.org/10.1038/s41591-020-1072-4
    Journal articles | 2020
    Dr Mark James Cowley
    Clarke M; Mackay A; Ismer B; Pickles JC; Tatevossian RG; Newman S; Bale TA; Stoler I; Izquierdo E; Temelso S; Carvalho DM; Molinari V; Burford A; Howell L; Virasami A; Fairchild AR; Avery A; Chalker J; Kristiansen M; Haupfear K; Dalton JD; Orisme W; Wen J; Hubank M; Kurian KM; Rowe C; Maybury M; Crosier S; Knipstein J; Schüller U; Kordes U; Kram DE; Snuderl M; Bridges L; Martin AJ; Doey LJ; Al-Sarraj S; Chandler C; Zebian B; Cairns C; Natrajan R; Boult JKR; Robinson SP; Sill M; Dunkel IJ; Gilheeney SW; Rosenblum MK; Hughes D; Proszek PZ; Macdonald TJ; Preusser M; Haberler C; Slavc I; Packer R; Ng HK; Caspi S; Popović M; Kotnik BF; Wood MD; Baird L; Davare MA; Solomon DA; Olsen TK; Brandal P; Farrell M; Cryan JB; Capra M; Karremann M; Schittenhelm J; Schuhmann MU; Ebinger M; Dinjens WNM; Kerl K; Hettmer S; Pietsch T; Andreiuolo F; Driever PH; Korshunov A; Hiddingh L; Worst BC; Sturm D; Zuckermann M; Witt O; Bloom T; Mitchell C; Miele E; Colafati GS; Diomedi-Camassei F; Bailey S; Moore AS; Hassall TEG; Lowis SP; Tsoli M; Cowley MJ; Ziegler DS; Karajannis MA; Aquilina K; Hargrave DR; Carceller F; Marshall LV, 2020, 'Infant high-grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes', Cancer Discovery, vol. 10, pp. 942 - 963, http://dx.doi.org/10.1158/2159-8290.CD-19-1030
    Journal articles | 2020
    Dr Mark James Cowley
    Pinese M; Lacaze P; Rath EM; Stone A; Brion MJ; Ameur A; Nagpal S; Puttick C; Husson S; Degrave D; Cristina TN; Kahl VFS; Statham AL; Woods RL; McNeil JJ; Riaz M; Barr M; Nelson MR; Reid CM; Murray AM; Shah RC; Wolfe R; Atkins JR; Fitzsimmons C; Cairns HM; Green MJ; Carr VJ; Cowley MJ; Pickett HA; James PA; Powell JE; Kaplan W; Gibson G; Gyllensten U; Cairns MJ; McNamara M; Dinger ME; Thomas DM, 2020, 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly', Nature Communications, vol. 11, http://dx.doi.org/10.1038/s41467-019-14079-0
    Journal articles | 2020
    Dr Mark James Cowley
    Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti-Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf-Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)', Human Mutation, vol. 41, pp. 1761 - 1774, http://dx.doi.org/10.1002/humu.24079
    Journal articles | 2020
    Dr Mark James Cowley
    Baker LA; Holliday H; Roden D; Roden D; Krisp C; Wu SZ; Junankar S; Serandour AA; Mohammed H; Nair R; Sankaranarayanan G; Law AMK; Law AMK; McFarland A; Simpson PT; Lakhani S; Dodson E; Selinger C; Anderson L; Anderson L; Samimi G; Hacker NF; Lim E; Lim E; Ormandy CJ; Naylor MJ; Simpson K; Nikolic I; O'Toole S; Kaplan W; Cowley MJ; Carroll JS; Molloy M; Swarbrick A, 2020, 'Proteogenomic analysis of Inhibitor of Differentiation 4 (ID4) in basal-like breast cancer', Breast Cancer Research, vol. 22, pp. 63, http://dx.doi.org/10.1186/s13058-020-01306-6
    Journal articles | 2020
    Dr Mark James Cowley
    Khuong-Quang DA; Brown LM; Wong M; Mayoh C; Sexton-Oates A; Kumar A; Pinese M; Nagabushan S; Lau L; Ludlow LE; Gifford AJ; Rodriguez M; Desai J; Fox SB; Haber M; Ziegler DS; Hansford JR; Marshall GM; Cowley MJ; Ekert PG, 2020, 'Recurrent SPECC1L–NTRK fusions in pediatric sarcoma and brain tumors', Cold Spring Harbor Molecular Case Studies, vol. 6, http://dx.doi.org/10.1101/MCS.A005710
    Journal articles | 2020
    Dr Mark James Cowley
    Dreyer SB; Pinese M; Jamieson NB; Scarlett CJ; Colvin EK; Pajic M; Johns AL; Humphris JL; Wu J; Cowley MJ; Chou A; Nagrial AM; Chantrill L; Chin VT; Jones MD; Moran-Jones K; Carter CR; Dickson EJ; Samra JS; Merrett ND; Gill AJ; Kench JG; Duthie F; Miller DK; Cooke S; Aust D; Knösel T; Rümmele P; Grützmann R; Pilarsky C; Nguyen NQ; Musgrove EA; Bailey PJ; McKay CJ; Biankin AV; Chang DK; Australian Pancreatic Cancer Genome Initiative ; Glasgow Precision Oncology Laboratory , 2020, 'Precision Oncology in Surgery: Patient Selection for Operable Pancreatic Cancer.', Ann Surg, vol. 272, pp. 366 - 376, http://dx.doi.org/10.1097/SLA.0000000000003143
    Journal articles | 2020
    Dr Mark James Cowley
    Mueller SA; Gauthier MEA; Blackburn J; Grady JP; Kraitsek S; Hajdu E; Dettmer MS; Dahlstrom JE; Lee CS; Luk PP; Yu B; Giger R; Kummerfeld S; Clark JR; Gupta R; Cowley MJ, 2020, 'Molecular patterns in salivary duct carcinoma identify prognostic subgroups', Modern Pathology, vol. 33, pp. 1896 - 1909, http://dx.doi.org/10.1038/s41379-020-0576-2
    Journal articles | 2020
    Dr Mark James Cowley
    Ma A; Yousoof S; Grigg JR; Flaherty M; Minoche AE; Cowley MJ; Nash BM; Ho G; Gayagay T; Lai T; Farnsworth E; Hackett EL; Fisk K; Wong K; Holman KJ; Jenkins G; Cheng A; Martin F; Karaconji T; Elder JE; Enriquez A; Wilson M; Amor DJ; Stutterd CA; Kamien B; Nelson J; Dinger ME; Bennetts B; Jamieson RV, 2020, 'Revealing hidden genetic diagnoses in the ocular anterior segment disorders', Genetics in Medicine, vol. 22, pp. 1623 - 1632, http://dx.doi.org/10.1038/s41436-020-0854-x
    Journal articles | 2020
    Dr Mark James Cowley
    Bergen NJV; Ahmed SM; Collins F; Cowley M; Vetro A; Dale RC; Hock DH; De Caestecker C; Minal M; Massey S; Gladys H; Pisano T; Glover S; Gusman J; Stroud DA; Dinger M; Guerrini R; MacAra IG; Christodoulou J, 2020, 'Mutations in the exocyst component EXOC2 cause severe defects in human brain development', Journal of Experimental Medicine, vol. 217, http://dx.doi.org/10.1084/JEM.20192040
    Journal articles | 2020
    Dr Mark James Cowley
    Whitehouse JP; Howlett M; Hii H; Mayoh C; Wong M; Barahona P; Ajuyah P; White CL; Buntine MK; Dyke JM; Lee S; Valvi S; Stanley J; Andradas C; Carline B; Kuchibhotla M; Ekert PG; Cowley MJ; Gottardo NG; Endersby R, 2020, 'A novel orthotopic patient-derived xenograft model of radiation-induced glioma following medulloblastoma', Cancers, vol. 12, pp. 1 - 24, http://dx.doi.org/10.3390/cancers12102937
    Journal articles | 2020
    Dr Mark James Cowley
    Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J, 2020, 'RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features', American Journal of Human Genetics, vol. 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005
    Journal articles | 2020
    Dr Mark James Cowley
    Whitehouse J; Howlett M; Stanley J; Hii H; Valvi S; White C; Mayoh C; Wong M; Strowger B; Dyke J; Cowley M; Gottardo N; Endersby R, 2020, 'DIPG-50. A NOVEL ORTHOTOPIC PATIENT-DERIVED XENOGRAFT MODEL OF RADIATION-INDUCED GLIOMA', Neuro-Oncology, vol. 22, pp. iii296 - iii296, http://dx.doi.org/10.1093/neuonc/noaa222.095
    Journal articles | 2020
    Dr Mark James Cowley
    Satgunaseelan L; Gauthier M; Cowley M; Lo K; Yang J; Clark J; Gupta R, 2020, '38. Retrotransposon activity in young patients with oral Squamous Cell Carcinoma (OSCC)', Pathology, vol. 52, pp. S146 - S146, http://dx.doi.org/10.1016/j.pathol.2020.01.038
    Journal articles | 2020
    Dr Mark James Cowley
    Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti‐Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf‐Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Cover, Volume 41, Issue 10', Human Mutation, vol. 41, http://dx.doi.org/10.1002/humu.24115
    Journal articles | 2019
    Dr Mark James Cowley
    McCabe MJ; Pinese M; Chan CL; Sheriff N; Thompson TJ; Grady J; Wong M; Gauthier MEA; Puttick C; Gayevskiy V; Hajdu E; Wong SQ; Barrett W; Earls P; Lukeis R; Cheng YY; Lin RCY; Thomas DM; Watkins DN; Dinger ME; McCormack AI; Cowley MJ, 2019, 'Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases', Cold Spring Harbor Molecular Case Studies, vol. 5, http://dx.doi.org/10.1101/mcs.a003764
    Journal articles | 2019
    Dr Mark James Cowley
    Minoche AE; Horvat C; Johnson R; Gayevskiy V; Morton SU; Drew AP; Woo K; Statham AL; Lundie B; Bagnall RD; Ingles J; Semsarian C; Seidman JG; Seidman CE; Dinger ME; Cowley MJ; Fatkin D, 2019, 'Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy', Genetics in Medicine, vol. 21, pp. 650 - 662, http://dx.doi.org/10.1038/s41436-018-0084-7
    Journal articles | 2019
    Dr Mark James Cowley
    Rius R; Riley LG; Guo Y; Menezes M; Compton AG; Van Bergen NJ; Gayevskiy V; Cowley MJ; Cummings BB; Adams L; Ellaway C; Thorburn DR; Hakonarson H; Christodoulou J, 2019, 'Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child', Molecular Genetics and Metabolism, vol. 126, pp. 77 - 82, http://dx.doi.org/10.1016/j.ymgme.2018.12.002
    Journal articles | 2019
    Dr Mark James Cowley
    Leong TL; Gayevskiy V; Steinfort DP; De Massy MR; Gonzalez-Rajal A; Marini KD; Stone E; Chin V; Havryk A; Plit M; Irving LB; Jennings BR; McCloy RA; Jayasekara WSN; Alamgeer M; Boolell V; Field A; Russell PA; Kumar B; Gough DJ; Szczepny A; Ganju V; Rossello FJ; Cain JE; Papenfuss AT; Asselin-Labat ML; Cowley MJ; Watkins DN, 2019, 'Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer', Oncogene, vol. 38, pp. 1661 - 1675, http://dx.doi.org/10.1038/s41388-018-0536-1
    Journal articles | 2019
    Dr Mark James Cowley
    McCabe M; Gauthier M-E; Chan C-L; Thompson T; De Sousa S; Puttick C; Grady J; Gayevskiy V; Tao J; Ying K; Cipponi A; Deng N; Swarbrick A; Thomas M; kConFab ; Lord R; Johns A; Kohonen-Corish M; O'Toole S; Clark J; Mueller S; Gupta R; McCormack A; Dinger M; Cowley M, 2019, 'Development and validation of a targeted gene sequencing panel for application to disparate cancers', Scientific Reports
    Journal articles | 2019
    Dr Mark James Cowley
    Zammit NW; Siggs OM; Gray PE; Horikawa K; Langley DB; Walters SN; Daley SR; Loetsch C; Warren J; Yap JY; Cultrone D; Russell A; Malle EK; Villanueva JE; Cowley MJ; Gayevskiy V; Dinger ME; Brink R; Zahra D; Chaudhri G; Karupiah G; Whittle B; Roots C; Bertram E; Yamada M; Jeelall Y; Enders A; Clifton BE; Mabbitt PD; Jackson CJ; Watson SR; Jenne CN; Lanier LL; Wiltshire T; Spitzer MH; Nolan GP; Schmitz F; Aderem A; Porebski BT; Buckle AM; Abbott DW; Ziegler JB; Craig ME; Benitez-Aguirre P; Teo J; Tangye SG; King C; Wong M; Cox MP; Phung W; Tang J; Sandoval W; Wertz IE; Christ D; Goodnow CC; Grey ST, 2019, 'Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity', Nature Immunology, vol. 20, pp. 1299 - 1310, http://dx.doi.org/10.1038/s41590-019-0492-0
    Journal articles | 2019
    Dr Mark James Cowley
    Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, vol. 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9
    Journal articles | 2019
    Dr Mark James Cowley
    Kang C; Liang C; Ahmad KE; Gu Y; Siow SF; Colebatch JG; Whyte S; Ng K; Cremer PD; Corbett AJ; Davis RL; Roscioli T; Cowley MJ; Park JS; Sue CM; Kumar KR, 2019, 'High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia', Cerebellum, vol. 18, pp. 137 - 146, http://dx.doi.org/10.1007/s12311-018-0969-7
    Journal articles | 2019
    Dr Mark James Cowley
    Gayevskiy V; Roscioli T; Dinger ME; Cowley MJ, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, vol. 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540
    Journal articles | 2019
    Dr Mark James Cowley
    Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; DInger M; Buckley M; Roscioli T, 2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, vol. 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019
    Journal articles | 2019
    Dr Mark James Cowley
    Cowley MJ; Liu YC; Oliver KL; Carvill G; Myers CT; Gayevskiy V; Delatycki M; Vlaskamp DRM; Zhu Y; Mefford H; Buckley MF; Bahlo M; Scheffer IE; Dinger ME; Roscioli T, 2019, 'Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection', Human Mutation, vol. 40, pp. 374 - 379, http://dx.doi.org/10.1002/humu.23699
    Journal articles | 2019
    Dr Mark James Cowley
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, vol. 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
    Journal articles | 2019
    Dr Mark James Cowley
    Rius R; Cowley MJ; Riley L; Puttick C; Thorburn DR; Christodoulou J, 2019, 'Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon', Genetics in Medicine, vol. 21, pp. 2823 - 2826, http://dx.doi.org/10.1038/s41436-019-0568-0
    Journal articles | 2019
    Dr Mark James Cowley
    Kumar KR; Cowley MJ; Davis RL, 2019, 'Next-Generation Sequencing and Emerging Technologies', Seminars in Thrombosis and Hemostasis, vol. 45, pp. 661 - 673, http://dx.doi.org/10.1055/s-0039-1688446
    Journal articles | 2019
    Dr Mark James Cowley
    Kim A; Kumar KR; Davis RL; Mallawaarachchi AC; Gayevskiy V; Minoche AE; Walls Z; Kim HJ; Jang M; Cowley MJ; Choi JH; Shin C; Sue CM; Jeon B, 2019, 'Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing', Cerebellum, vol. 18, pp. 781 - 790, http://dx.doi.org/10.1007/s12311-019-01038-0
    Journal articles | 2019
    Dr Mark James Cowley
    Rius R; Van Bergen NJ; Compton AG; Riley LG; Kava MP; Balasubramaniam S; Amor DJ; Fanjul-Fernandez M; Cowley MJ; Fahey MC; Koenig MK; Enns GM; Sadedin S; Wilson MJ; Tan TY; Thorburn DR; Christodoulou J, 2019, 'Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.', J Clin Med, vol. 8, http://dx.doi.org/10.3390/jcm8112020
    Journal articles | 2019
    Dr Mark James Cowley
    Kumar KR; Davis RL; Tchan MC; Wali GM; Mahant N; Ng K; Kotschet K; Siow SF; Gu J; Walls Z; Kang C; Wali G; Levy S; Phua CS; Yiannikas C; Darveniza P; Chang FCF; Morales-Briceño H; Rowe DB; Drew A; Gayevskiy V; Cowley MJ; Minoche AE; Tisch S; Hayes M; Kummerfeld S; Fung VSC; Sue CM, 2019, 'Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes', Parkinsonism and Related Disorders, vol. 69, pp. 111 - 118, http://dx.doi.org/10.1016/j.parkreldis.2019.11.004
    Journal articles | 2019
    Dr Mark James Cowley
    Mueller SA; Gauthier MEA; Ashford B; Gupta R; Gayevskiy V; Ch'ng S; Palme CE; Shannon K; Clark JR; Ranson M; Cowley MJ, 2019, 'Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma', Journal of Investigative Dermatology, vol. 139, pp. 1449 - 1458.e1, http://dx.doi.org/10.1016/j.jid.2019.01.008
    Journal articles | 2019
    Dr Mark James Cowley
    Satgunaseelan L; Gauthier M; Cowley M; Lo K; Yang J; Clark J; Gupta R, 2019, 'Retrotransposon Activity In Young Patients With Oral Squamous Cell Carcinoma (OSCC)', Pathology, vol. 51, pp. S65 - S66, http://dx.doi.org/10.1016/j.pathol.2018.12.152
    Journal articles | 2019
    Dr Mark James Cowley
    Mueller SA; Grady J; Dettmer M; Gauthier M-EA; Hajdu E; Blackburn J; Giger R; Dahlstrom JE; Luk P; Lee S; Kratisek S; Yu B; Clark JR; Cowley MJ; Gupta R, 2019, 'The targetable genomic landscape of salivary duct carcinoma', Pathology, vol. 51, pp. S83 - S83, http://dx.doi.org/10.1016/j.pathol.2018.12.210
    Journal articles | 2019
    Dr Mark James Cowley
    Gayevskiy V; Roscioli T; Dinger M; Cowley M, 2019, 'Seave: a comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, vol. 35, pp. 122 - 125, http://dx.doi.org/10.1101/258061
    Journal articles | 2019
    Dr Mark James Cowley
    Puttick C; Kumar K; Davis R; Pinese M; Thomas D; Dinger M; Sue C; Cowley M, 2019, 'mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data', , http://dx.doi.org/10.1101/852210
    Journal articles | 2018
    Dr Mark James Cowley
    Allanson BM; Weber MA; Jackett LA; Chan C; Lau L; Ziegler D; Warby M; Mayoh C; Cowley MJ; Tucker KM; Long GV; Maher A; Anazodo A; Scolyer RA, 2018, 'Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma.', Pathology, vol. 50, pp. 648 - 653, http://dx.doi.org/10.1016/j.pathol.2018.07.002
    Journal articles | 2018
    Dr Mark James Cowley
    Minoche AE; Horvat C; Johnson R; Gayevskiy V; Morton SU; Drew AP; Woo K; Statham AL; Lundie B; Bagnall RD; Ingles J; Semsarian C; Seidman JG; Seidman CE; Dinger ME; Cowley MJ; Fatkin D, 2018, 'Response to Brodehl et al.', Genetics in Medicine, pp. 1 - 2, http://dx.doi.org/10.1038/s41436-018-0292-1
    Journal articles | 2018
    Dr Mark James Cowley
    Zilberg C; Lee MW; Yu B; Ashford B; Kraitsek S; Ranson M; Shannon K; Cowley M; Iyer NG; Palme CE; Ch'Ng S; Low TH; O'Toole S; Clark JR; Gupta R, 2018, 'Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma', Modern Pathology, vol. 31, pp. 275 - 287, http://dx.doi.org/10.1038/modpathol.2017.128
    Journal articles | 2018
    Dr Mark James Cowley
    Chou A; Froio D; Nagrial AM; Parkin A; Murphy KJ; Chin VT; Wohl D; Steinmann A; Stark R; Drury A; Walters SN; Vennin C; Burgess A; Pinese M; Chantrill LA; Cowley MJ; Molloy TJ; Waddell N; Johns A; Grimmond SM; Chang DK; Biankin AV; Sansom OJ; Morton JP; Grey ST; Cox TR; Turchini J; Samra J; Clarke SJ; Timpson P; Gill AJ; Pajic M, 2018, 'Tailored first-line and second-line CDK4-targeting treatment combinations in mouse models of pancreatic cancer', Gut, vol. 67, pp. 2142 - 2155, http://dx.doi.org/10.1136/gutjnl-2017-315144
    Journal articles | 2018
    Dr Mark James Cowley
    Kumar KR; Wali G; Davis RL; Mallawaarachchi AC; Palmer EE; Gayevskiy V; Minoche AE; Veivers D; Dinger ME; Mackay-Sim A; Cowley MJ; Sue CM, 2018, 'Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms', Molecular Genetics and Metabolism Reports, vol. 16, pp. 46 - 51, http://dx.doi.org/10.1016/j.ymgmr.2018.07.003
    Journal articles | 2018
    Dr Mark James Cowley
    Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Ross SB; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C, 2018, 'Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy', Journal of the American College of Cardiology, vol. 72, pp. 419 - 429, http://dx.doi.org/10.1016/j.jacc.2018.04.078
    Journal articles | 2018
    Dr Mark James Cowley
    Fazakerley DJ; Chaudhuri R; Yang P; Maghzal GJ; Thomas KC; Krycer JR; Humphrey SJ; Parker BL; Fisher-Wellman KH; Meoli CC; Hoffman NJ; Diskin C; Burchfield JG; Cowley MJ; Kaplan W; Modrusan Z; Kolumam G; Yang JYH; Chen DL; Samocha-Bonet D; Greenfield JR; Hoehn KL; Stocker R; James DE, 2018, 'Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance', eLife, vol. 7, http://dx.doi.org/10.7554/eLife.32111
    Journal articles | 2018
    Dr Mark James Cowley
    Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, vol. 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39
    Journal articles | 2018
    Dr Mark James Cowley
    Tsoli M; Wadham C; Pinese M; Failes T; Joshi S; Mould E; Yin JX; Gayevskiy V; Kumar A; Kaplan W; Ekert PG; Saletta F; Franshaw L; Liu J; Gifford A; Weber MA; Rodriguez M; Cohn RJ; Arndt G; Tyrrell V; Haber M; Trahair T; Marshall GM; McDonald K; Cowley MJ; Ziegler DS, 2018, 'Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer', Cancer Biology and Therapy, vol. 19, pp. 1078 - 1087, http://dx.doi.org/10.1080/15384047.2018.1491498
    Journal articles | 2018
    Dr Mark James Cowley
    Ziegler DS; Wong M; Mayoh C; Kumar A; Tsoli M; Mould E; Tyrrell V; Khuong-Quang DA; Pinese M; Gayevskiy V; Cohn RJ; Lau LMS; Reynolds M; Cox MC; Gifford A; Rodriguez M; Cowley MJ; Ekert PG; Marshall GM; Haber M, 2018, 'Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma', British Journal of Cancer, vol. 119, pp. 693 - 696, http://dx.doi.org/10.1038/s41416-018-0251-2
    Journal articles | 2018
    Dr Mark James Cowley
    Deenick EK; Morey A; Danta M; Emmett L; Fay K; Gracie G; Ma CS; Macintosh R; Smith SABC; Sasson SC; Sewell WA; Cowley M; Tangye SG; Kelleher AD; Phan TG, 2018, 'Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency', Journal of Clinical Immunology, vol. 38, pp. 159 - 162, http://dx.doi.org/10.1007/s10875-018-0477-z
    Journal articles | 2018
    Dr Mark James Cowley
    Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, vol. 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
    Journal articles | 2018
    Dr Mark James Cowley
    Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2018
    Dr Mark James Cowley
    Mattick JS; Dinger M; Schonrock N; Cowley M, 2018, 'Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing', Medical Journal of Australia, vol. 209, pp. 197, http://dx.doi.org/10.5694/mja17.01176
    Journal articles | 2018
    Dr Mark James Cowley
    Allanson BM; Weber MA; Jackett LA; Chan C; Lau L; Ziegler DS; Warby M; Mayoh C; Cowley MJ; Tucker KM; Long GV; Maher A; Anazodo A; Scolyer RA, 2018, 'Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma', Pathology, vol. 50, pp. 648 - 653, http://dx.doi.org/10.1016/j.pathol.2018.07.002
    Journal articles | 2018
    Dr Mark James Cowley
    Mallawaarachchi AC; Furlong T; Shine J; Harris PC; Cowley MJ, 2018, 'Population data improves variant interpretation in autosomal dominant polycystic kidney disease', Genetics in Medicine, http://dx.doi.org/10.1038/s41436-018-0324-x
    Journal articles | 2017
    Dr Mark James Cowley
    Balasubramaniam S; Riley LG; Vasudevan A; Cowley MJ; Gayevskiy V; Sue CM; Edwards C; Edkins E; Junckerstorff R; Kiraly-Borri C; Rowe P; Christodoulou J, 2017, 'EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.', JIMD Rep, vol. 42, pp. 19 - 29, http://dx.doi.org/10.1007/8904_2017_71
    Journal articles | 2017
    Dr Mark James Cowley
    Scarpa A; Chang DK; Nones K; Corbo V; Patch AM; Bailey P; Lawlor RT; Johns AL; Miller DK; Mafficini A; Rusev B; Scardoni M; Antonello D; Barbi S; Sikora KO; Cingarlini S; Vicentini C; McKay S; Quinn MCJ; Bruxner TJC; Christ AN; Harliwong I; Idrisoglu S; McLean S; Nourse C; Nourbakhsh E; Wilson PJ; Anderson MJ; Fink JL; Newell F; Waddell N; Holmes O; Kazakoff SH; Leonard C; Wood S; Xu Q; Nagaraj SH; Amato E; Dalai I; Bersani S; Cataldo I; Dei Tos AP; Capelli P; Davì MV; Landoni L; Malpaga A; Miotto M; Whitehall VLJ; Leggett BA; Harris JL; Harris J; Jones MD; Humphris J; Chantrill LA; Chin V; Nagrial AM; Pajic M; Scarlett CJ; Pinho A; Rooman I; Toon C; Wu J; Pinese M; Cowley M; Barbour A; Mawson A; Humphrey ES; Colvin EK; Chou A; Lovell JA; Jamieson NB; Duthie F; Gingras MC; Fisher WE; Dagg RA; Lau LMS; Lee M; Pickett HA; Reddel RR; Samra JS; Kench JG; Merrett ND; Epari K; Nguyen NQ; Zeps N; Falconi M; Simbolo M; Butturini G; Van Buren G; Partelli S; Fassan M; Khanna KK; Gill AJ; Wheeler DA; Gibbs RA; Musgrove EA; Bassi C; Tortora G; Pederzoli P; Pearson JV, 2017, 'Whole-genome landscape of pancreatic neuroendocrine tumours', Nature, vol. 543, pp. 65 - 71, http://dx.doi.org/10.1038/nature21063
    Journal articles | 2017
    Dr Mark James Cowley
    Humphris JL; Patch AM; Nones K; Bailey PJ; Johns AL; McKay S; Chang DK; Miller DK; Pajic M; Kassahn KS; Quinn MCJ; Bruxner TJC; Christ AN; Harliwong I; Idrisoglu S; Manning S; Nourse C; Nourbakhsh E; Stone A; Wilson PJ; Anderson M; Fink JL; Holmes O; Kazakoff S; Leonard C; Newell F; Waddell N; Wood S; Mead RS; Xu Q; Wu J; Pinese M; Cowley MJ; Jones MD; Nagrial AM; Chin VT; Chantrill LA; Mawson A; Chou A, 2017, 'Hypermutation In Pancreatic Cancer', Gastroenterology, vol. 152, pp. 68 - 74.e2, http://dx.doi.org/10.1053/j.gastro.2016.09.060
    Journal articles | 2017
    Dr Mark James Cowley
    Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken LD; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J, 2017, 'A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations', American Journal of Human Genetics, vol. 101, pp. 995 - 1005, http://dx.doi.org/10.1016/j.ajhg.2017.10.009
    Journal articles | 2017
    Dr Mark James Cowley
    Khoo TK; Yu B; Smith JA; Clarke AJ; Luk PP; Selinger CI; Mahon KL; Kraitsek S; Palme C; Boyer MJ; Dinger ME; Cowley MJ; O'Toole SA; Clark JR; Gupta R, 2017, 'Somatic mutations in salivary duct carcinoma and potential therapeutic targets', Oncotarget, vol. 8, pp. 75893 - 75903, http://dx.doi.org/10.18632/oncotarget.18173
    Journal articles | 2017
    Dr Mark James Cowley
    Hardie R-A; van Dam E; Cowley M; Han T-L; Balaban S; Pajic M; Pinese M; Iconomou M; Shearer RF; McKenna J; Miller D; Waddell N; Pearson JV; Grimmond SM; Sazanov L; Biankin AV; Villas-Boas S; Hoy AJ; Turner N; Saunders DN, 2017, 'Mitochondrial mutations and metabolic adaptation in pancreatic cancer', CANCER & METABOLISM, vol. 5, http://dx.doi.org/10.1186/s40170-017-0164-1
    Journal articles | 2017
    Dr Mark James Cowley
    Harris NLE; Vennin C; Conway JRW; Vine KL; Pinese M; Cowley MJ; Shearer RF; Lucas MC; Herrmann D; Allam AH; Pajic M; Morton JP; Biankin AV; Ranson M; Timpson P; Saunders DN, 2017, 'SerpinB2 regulates stromal remodelling and local invasion in pancreatic cancer', Oncogene, vol. 36, pp. 4288 - 4298, http://dx.doi.org/10.1038/onc.2017.63
    Journal articles | 2017
    Dr Mark James Cowley
    Warton K; Yuwono NL; Cowley MJ; McCabe MJ; So A; Ford CE, 2017, 'Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma', Molecular Diagnosis and Therapy, vol. 21, pp. 563 - 570, http://dx.doi.org/10.1007/s40291-017-0284-x
    Journal articles | 2017
    Dr Mark James Cowley
    Zeraati M; Moye AL; Wong JWH; Perera D; Cowley MJ; Christ DU; Bryan TM; Dinger ME, 2017, 'Cancer-Associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression', Scientific Reports, vol. 7, http://dx.doi.org/10.1038/s41598-017-00739-y
    Journal articles | 2017
    Dr Mark James Cowley
    Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Thorburn DR; Prelog K; Bahlo M; Sue CM; Balasubramaniam S; Christodoulou J, 2017, 'A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders', Journal of Inherited Metabolic Disease, vol. 40, pp. 261 - 269, http://dx.doi.org/10.1007/s10545-016-0010-6
    Journal articles | 2017
    Dr Mark James Cowley
    Balasubramaniam S; Riley LG; Bratkovic D; Ketteridge D; Manton N; Cowley MJ; Gayevskiy V; Roscioli T; Mohamed M; Gardeitchik T; Morava E; Christodoulou J, 2017, 'Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency', Journal of Inherited Metabolic Disease, vol. 40, pp. 745 - 747, http://dx.doi.org/10.1007/s10545-017-0036-4
    Journal articles | 2017
    Dr Mark James Cowley
    Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C, 2017, 'Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy', European Journal of Human Genetics, vol. 25, pp. 763 - 767, http://dx.doi.org/10.1038/ejhg.2017.29
    Journal articles | 2017
    Dr Mark James Cowley
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, vol. 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
    Journal articles | 2017
    Dr Mark James Cowley
    Baynam G; Bowman F; Lister K; Walker CE; Pachter N; Goldblatt J; Boycott KM; Gahl WA; Kosaki K; Adachi T; Ishii K; Mahede T; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Broley S; Schofield L; Verhoef H; Groza T; Zankl A; Robinson PN; Haendel M; Brudno M; Mattick JS; Dinger ME; Roscioli T; Cowley MJ; Olry A; Hanauer M; Alkuraya FS; Taruscio D; Posada De La Paz M; Lochmüller H; Bushby K; Thompson R; Hedley V; Lasko P; Mina K; Beilby J; Tifft C; Davis M; Laing NG; Julkowska D; Le Cam Y; Terry SF; Kaufmann P; Eerola I; Norstedt I; Rath A; Suematsu M; Groft SC; Austin CP; Draghia-Akli R; Weeramanthri TS; Molster C; Dawkins HJS, 2017, 'Improved diagnosis and care for rare diseases through implementation of precision public health framework', Advances in Experimental Medicine and Biology, vol. 1031, pp. 55 - 94, http://dx.doi.org/10.1007/978-3-319-67144-4_4
    Journal articles | 2017
    Dr Mark James Cowley
    De Sousa SMC; McCabe MJ; Wu K; Roscioli T; Gayevskiy V; Brook K; Rawlings L; Scott HS; Thompson TJ; Earls P; Gill AJ; Cowley MJ; Dinger ME; McCormack AI, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, vol. 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944
    Journal articles | 2017
    Dr Mark James Cowley
    Khoo T; Yu B; Smith J; Clarke A; Luk P; Selinger C; Mahon K; Kraitsek S; Palme C; Boyer M; Dinger M; Cowley M; O’Toole S; Clark J; Gupta R, 2017, 'Somatic mutations in salivary duct carcinoma and potential therapeutic targets', Pathology, vol. 49, pp. S105 - S105, http://dx.doi.org/10.1016/j.pathol.2016.12.301
    Journal articles | 2016
    Dr Mark James Cowley
    Pangon L; Ng I; Giry-Laterriere M; Currey N; Morgan A; Benthani F; Tran PN; Al-Sohaily S; Segelov E; Parker BL; Cowley MJ; Wright DC; St Heaps L; Carey L; Rooman I; Kohonen-Corish MRJ, 2016, 'JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer', Oncogene, vol. 35, pp. 2834 - 2841, http://dx.doi.org/10.1038/onc.2015.347
    Journal articles | 2016
    Dr Mark James Cowley
    Bailey P; Chang DK; Nones K; Johns AL; Patch AM; Gingras MC; Miller DK; Christ AN; Bruxner TJC; Quinn MC; Nourse C; Murtaugh LC; Harliwong I; Idrisoglu S; Manning S; Nourbakhsh E; Wani S; Fink L; Holmes O; Chin V; Anderson MJ; Kazakoff S; Leonard C; Newell F; Waddell N; Wood S; Xu Q; Wilson PJ; Cloonan N; Kassahn KS; Taylor D; Quek K; Robertson A; Pantano L; Mincarelli L; Sanchez LN; Evers L; Wu J; Pinese M; Cowley MJ; Jones MD; Colvin EK; Nagrial AM; Humphrey ES; Chantrill LA; Mawson A; Humphris J; Chou A; Pajic M; Scarlett CJ; Pinho AV; Giry-Laterriere M; Rooman I; Samra JS; Kench JG; Lovell JA; Merrett ND; Toon CW; Epari K; Nguyen NQ; Barbour A; Zeps N; Moran-Jones K; Jamieson NB; Graham JS; Duthie F; Oien K; Hair J; Grützmann R; Maitra A; Iacobuzio-Donahue CA; Wolfgang CL; Morgan RA; Lawlor RT; Corbo V; Bassi C; Rusev B; Capelli P; Salvia R; Tortora G; Mukhopadhyay D; Petersen GM; Munzy DM; Fisher WE; Karim SA; Eshleman JR; Hruban RH; Pilarsky C; Morton JP; Sansom OJ; Scarpa A; Musgrove EA; Bailey UMH; Hofmann O; Sutherland RL; Wheeler DA; Gill AJ; Gibbs RA; Pearson JV; Waddell N, 2016, 'Genomic analyses identify molecular subtypes of pancreatic cancer', Nature, vol. 531, pp. 47 - 52, http://dx.doi.org/10.1038/nature16965
    Journal articles | 2016
    Dr Mark James Cowley
    Gingras MC; Covington KR; Chang DK; Donehower LA; Gill AJ; Ittmann MM; Creighton CJ; Johns AL; Shinbrot E; Dewal N; Fisher WE; Pilarsky C; Grützmann R; Overman MJ; Jamieson NB; Van Buren G; Drummond J; Walker K; Hampton OA; Xi L; Muzny DM; Doddapaneni H; Lee SL; Bellair M; Hu J; Han Y; Dinh HH; Dahdouli M; Samra JS; Bailey P; Waddell N; Pearson JV; Harliwong I; Wang H; Aust D; Oien KA; Hruban RH; Hodges SE; McElhany A; Saengboonmee C; Duthie FR; Grimmond SM; Biankin AV; Wheeler DA; Gibbs RA; Jones MD; Mawson A; Scarlett CJ; Brancato MAL; Rowe SJ; Simpson SH; Smith Martyn M; Thomas MT; Chantrill LA; Chin VT; Angela C; Cowley MJ; Humphris JL; Mead S; Nagrial AM; Pajic M; Pettit J; Pinese M; Rooman I; Wu J; Tao J; DiPietro R; Watson C; Steinmann A; Lee HC; Wong R; Pinho AV; Giry-Laterriere M; Daly RJ; Musgrove EA; Sutherland RL; Kassahn KS; Miller DK; Wilson PJ; Patch AM; Song S; Idrisoglu S; Nourse C; Nourbakhsh E; Manning S; Wani S; Gongora M; Anderson M; Holmes O; Leonard C; Taylor D; Wood S; Xu C; Nones K; Fink LJ; Christ A; Bruxner T; Cloonan N; Newell F; Quinn M, 2016, 'Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation', Cell Reports, vol. 14, pp. 907 - 919, http://dx.doi.org/10.1016/j.celrep.2015.12.005
    Journal articles | 2016
    Dr Mark James Cowley
    Mallawaarachchi AC; Hort Y; Cowley MJ; Mccabe MJ; Minoche A; Dinger ME; Shine J; Furlong TJ, 2016, 'Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease', European Journal of Human Genetics, vol. 24, pp. 1584 - 1590, http://dx.doi.org/10.1038/ejhg.2016.48
    Journal articles | 2016
    Dr Mark James Cowley
    Merlevede J; Droin N; Qin T; Meldi K; Yoshida K; Morabito M; Chautard E; Auboeuf D; Fenaux P; Braun T; Itzykson R; De Botton S; Quesnel B; Commes T; Jourdan E; Vainchenker W; Bernard O; Pata-Merci N; Solier S; Gayevskiy V; Dinger ME; Cowley MJ; Selimoglu-Buet D; Meyer V; Artiguenave F; Deleuze JF; Preudhomme C; Stratton MR; Alexandrov LB; Padron E; Ogawa S; Koscielny S; Figueroa M; Solary E, 2016, 'Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents', Nature Communications, vol. 7, http://dx.doi.org/10.1038/ncomms10767
    Journal articles | 2016
    Dr Mark James Cowley
    Heimer G; Kerätär JM; Riley LG; Balasubramaniam S; Eyal E; Pietikäinen LP; Hiltunen JK; Marek-Yagel D; Hamada J; Gregory A; Rogers C; Hogarth P; Nance MA; Shalva N; Veber A; Tzadok M; Nissenkorn A; Tonduti D; Renaldo F; Bamshad MJ; Leal SM; Nickerson DA; Anderson P; Annable M; Blue EM; Buckingham KJ; Chin J; Chong JX; Cornejo R; Davis CP; Frazar C; He Z; Jarvik GP; Jimenez G; Johanson E; Kolar T; Krauter SA; Luksic D; Marvin CT; McGee S; McGoldrick DJ; Patterson K; Perez M; Phillips SW; Pijoan J; Robertson PD; Santos-Cortez R; Shankar A; Slattery K; Shively KM; Siegel DL; Smith JD; Tackett M; Wang G; Wegener M; Weiss JM; Wernick RI; Wheeler MM; Yi Q; Kraoua I; Panteghini C; Valletta L; Garavaglia B; Cowley MJ; Gayevskiy V; Roscioli T; Silberstein JM; Hoffmann C; Raas-Rothschild A; Tiranti V; Anikster Y; Christodoulou J; Kastaniotis AJ; Ben-Zeev B; Hayflick SJ, 2016, 'MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder', American Journal of Human Genetics, vol. 99, pp. 1229 - 1244, http://dx.doi.org/10.1016/j.ajhg.2016.09.021
    Journal articles | 2016
    Dr Mark James Cowley
    Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ, 2016, 'Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing', Neurogenetics, vol. 17, pp. 265 - 270, http://dx.doi.org/10.1007/s10048-016-0495-z
    Journal articles | 2015
    Dr Mark James Cowley
    Waddell N; Pajic M; Patch AM; Chang DK; Kassahn KS; Bailey P; Johns AL; Miller D; Nones K; Quek K; Quinn MCJ; Robertson AJ; Fadlullah MZH; Bruxner TJC; Christ AN; Harliwong I; Idrisoglu S; Manning S; Nourse C; Nourbakhsh E; Wani S; Wilson PJ; Markham E; Cloonan N; Anderson MJ; Fink JL; Holmes O; Kazakoff SH; Leonard C; Newell F; Poudel B; Song S; Taylor D; Waddell N; Wood S; Xu Q; Wu J; Pinese M; Cowley MJ; Lee HC; Jones MD; Nagrial AM; Humphris J; Chantrill LA; Chin V; Steinmann AM; Mawson A; Humphrey ES; Colvin EK; Chou A; Scarlett CJ; Pinho AV; Giry-Laterriere M; Rooman I; Samra JS; Kench JG; Pettitt JA; Merrett ND; Toon C; Epari K; Nguyen NQ; Barbour A; Zeps N; Jamieson NB; Graham JS; Niclou SP; Bjerkvig R; Grützmann R; Aust D; Hruban RH; Maitra A; Iacobuzio-Donahue CA; Wolfgang CL; Morgan RA; Lawlor RT; Corbo V; Bassi C; Falconi M; Zamboni G; Tortora G; Tempero MA; Gill AJ; Eshleman JR; Pilarsky C; Scarpa A; Musgrove EA; Pearson JV; Biankin AV; Grimmond SM, 2015, 'Whole genomes redefine the mutational landscape of pancreatic cancer', Nature, vol. 518, pp. 495 - 501, http://dx.doi.org/10.1038/nature14169
    Journal articles | 2015
    Dr Mark James Cowley
    Tactacan CM; Phua YW; Liu L; Zhang L; Humphrey ES; Cowley M; Pinese M; Biankin AV; Daly RJ, 2015, 'The pseudokinase SgK223 promotes invasion of pancreatic ductal epithelial cells through JAK1/Stat3 signaling', Molecular Cancer, vol. 14, http://dx.doi.org/10.1186/s12943-015-0412-3
    Journal articles | 2015
    Dr Mark James Cowley
    Phua YW; Nguyen A; Roden DL; Elsworth B; Deng N; Nikolic I; Yang J; Mcfarland A; Russell R; Kaplan W; Cowley MJ; Nair R; Zotenko E; O'Toole S; Tan SX; James DE; Clark SJ; Kouros-Mehr H; Swarbrick A, 2015, 'MicroRNA profiling of the pubertal mouse mammary gland identifies miR-184 as a candidate breast tumour suppressor gene', Breast Cancer Research, vol. 17, http://dx.doi.org/10.1186/s13058-015-0593-0
    Journal articles | 2015
    Dr Mark James Cowley
    Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, vol. 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
    Journal articles | 2015
    Dr Mark James Cowley
    Grimont A; Pinho AV; Cowley MJ; Augereau C; Mawson A; Giry-Laterriere M; Van den Steen G; Waddell N; Pajic M; Sempoux C; Wu J; Grimmond SM; Biankin AV; Lemaigre FP; Rooman I; Jacquemin P, 2015, 'SOX9 regulates ERBB signalling in pancreatic cancer development', GUT, vol. 64, pp. 1790 - 1799, http://dx.doi.org/10.1136/gutjnl-2014-307075
    Journal articles | 2014
    Dr Mark James Cowley
    Grimont A; Pinho AV; Cowley MJ; Augereau C; Mawson A; Giry-Laterriere M; Van den Steen G; Waddell N; Pajic M; Sempoux C; Wu J; Grimmond SM; Biankin AV; Lemaigre FP; Rooman I; Jacquemin P, 2014, 'SOX9 regulates ERBB signalling in pancreatic cancer development', Gut, vol. 64, pp. 1790 - 1799, http://dx.doi.org/10.1136/gutjnl-2014-307075
    Journal articles | 2014
    Dr Mark James Cowley
    Suryani S; Carol H; Chonghaile TN; Frismantas V; Sarmah C; High L; Bornhauser B; Cowley MJ; Szymanska B; Evans K; Boehm I; Tonna E; Jones L; Manesh DM; Kurmasheva RT; Billups C; Kaplan W; Letai A; Bourquin JP; Houghton PJ; Smith MA; Lock RB, 2014, 'Cell and molecular determinants of in vivo efficacy of the BH3 mimetic ABT-263 against pediatric acute lymphoblastic leukemia xenografts', Clin Cancer Res, vol. 20, pp. 4520 - 4531, http://dx.doi.org/10.1158/1078-0432.CCR-14-0259
    Journal articles | 2014
    Dr Mark James Cowley
    Humphris JL; Johns AL; Simpson SH; Cowley MJ; Pajic M; Chang DK; Nagrial AM; Chin VT; Chantrill LA; Pinese M; Mead RS; Gill AJ; Samra JS; Kench JG; Musgrove EA; Tucker KM; Spigelman AD; Waddell N; Grimmond SM; Biankin AV, 2014, 'Clinical and pathologic features of familial pancreatic cancer', Cancer, vol. 120, pp. 3669 - 3675, http://dx.doi.org/10.1002/cncr.28863
    Journal articles | 2014
    Dr Mark James Cowley
    Nones K; Waddell N; Song S; Patch AM; Miller D; Johns A; Wu J; Kassahn KS; Wood D; Bailey P; Fink L; Manning S; Christ AN; Nourse C; Kazakoff S; Taylor D; Leonard C; Chang DK; Jones MD; Thomas M; Watson C; Pinese M; Cowley M; Rooman I; Pajic M; Butturini G; Malpaga A; Corbo V; Crippa S; Falconi M; Zamboni G; Castelli P; Lawlor RT; Gill AJ; Scarpa A; Pearson JV; Biankin AV; Grimmond SM, 2014, 'Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling', International Journal of Cancer, vol. 135, pp. 1110 - 1118, http://dx.doi.org/10.1002/ijc.28765
    Journal articles | 2013
    Dr Mark James Cowley
    Li CCY; Young PE; Maloney CA; Eaton SA; Cowley MJ; Buckland ME; Preiss T; Henstridge DC; Cooney GJ; Febbraio MA; Martin DIK; Cropley JE; Suter CM, 2013, 'Maternal obesity and diabetes induces latent metabolic defects and widespread epigenetic changes in isogenic mice.', Epigenetics : official journal of the DNA Methylation Society, vol. 8, pp. 602 - 611, http://dx.doi.org/10.4161/epi.24656
    Journal articles | 2013
    Dr Mark James Cowley
    Wauters E; Sanchez-Arevalo Lobo VJ; Pinho AV; Mawson A; Herranz D; Wu J; Cowley MJ; Colvin EK; Njicop EN; Sutherland RL; Liu T; Serrano M; Bouwens L; Real FX; Biankin AV; Rooman I, 2013, 'Sirtuin-1 regulates acinar to ductal metaplasia and supports cancer cell viability in pancreatic cancer', Cancer research, vol. 73, pp. 2357 - 2367, http://dx.doi.org/10.1158/0008-5472.CAN-12-3359
    Journal articles | 2013
    Dr Mark James Cowley
    Nair R; Roden DL; Teo WS; McFarland A; Junankar S; Ye S; Nguyen A; Yang J; Nikolic I; Hui M; Morey A; Shah J; Pfefferle AD; Usary J; Selinger C; Baker LA; Armstrong N; Cowley MJ; Naylor MJ; Ormandy CJ; Lakhani SR; Herschkowitz JI; Perou CM; Kaplan W; O'Toole SA; Swarbrick A, 2013, 'c-Myc and Her2 cooperate to drive a stem-like phenotype with poor prognosis in breast cancer', Oncogene, vol. 33, pp. 3992 - 4002, http://dx.doi.org/10.1038/onc.2013.368
    Journal articles | 2013
    Dr Mark James Cowley
    Cantley J; Walters SN; Jung MH; Weinberg A; Cowley MJ; Whitworth TP; Kaplan W; Hawthorne WJ; O'Connell PJ; Weir G; Grey ST, 2013, 'A preexistent hypoxic gene signature predicts impaired islet graft function and glucose homeostasis', Cell Transplantation, vol. 22, pp. 2147 - 2159, http://dx.doi.org/10.3727/096368912X658728
    Journal articles | 2013
    Dr Mark James Cowley
    Cao Y; Hoeppner LH; Bach S; Guangqi E; Guo Y; Wang E; Wu J; Cowley MJ; Chang DK; Waddell N; Grimmond SM; Biankin AV; Daly RJ; Zhang X; Mukhopadhyay D, 2013, 'Neuropilin-2 promotes extravasation and metastasis by interacting with endothelial α5 integrin', Cancer Research, vol. 73, pp. 4579 - 4590, http://dx.doi.org/10.1158/0008-5472.CAN-13-0529
    Journal articles | 2013
    Dr Mark James Cowley
    Stone A; Cowley MJ; Valdes-Mora F; McCloy RA; Sergio CM; Gallego-Ortega D; Caldon CE; Ormandy CJ; Biankin AV; Gee JMW; Nicholson RI; Print CG; Clark SJ; Musgrove EA, 2013, 'BCL-2 hypermethylation is a potential biomarker of sensitivity to antimitotic chemotherapy in endocrine-resistant breast cancer', Molecular Cancer Therapeutics, vol. 12, pp. 1874 - 1885, http://dx.doi.org/10.1158/1535-7163.MCT-13-0012
    Journal articles | 2013
    Dr Mark James Cowley
    Kassahn KS; Holmes O; Nones K; Patch AM; Miller DK; Christ AN; Harliwong I; Bruxner TJ; Xu Q; Anderson M; Wood S; Leonard C; Taylor D; Newell F; Song S; Idrisoglu S; Nourse C; Nourbakhsh E; Manning S; Wani S; Steptoe A; Pajic M; Cowley MJ; Pinese M; Chang DK; Gill AJ; Johns AL; Wu J; Wilson PJ; Fink L; Biankin AV; Waddell N; Grimmond SM; Pearson JV, 2013, 'Somatic point mutation calling in low cellularity tumors', PLoS ONE, vol. 8, http://dx.doi.org/10.1371/journal.pone.0074380
    Journal articles | 2013
    Dr Mark James Cowley
    Chou A; Waddell N; Cowley MJ; Gill AJ; Chang DK; Patch AM; Nones K; Wu J; Pinese M; Johns AL; Miller DK; Kassahn KS; Nagrial AM; Wasan H; Goldstein D; Toon CW; Chin V; Chantrill L; Humphris J; Mead RS; Rooman I; Samra JS; Pajic M; Musgrove EA; Pearson JV; Morey AL; Grimmond SM; Biankin AV, 2013, 'Clinical and molecular characterization of HER2 amplified-pancreatic cancer', Genome Medicine, vol. 5, http://dx.doi.org/10.1186/gm482
    Journal articles | 2013
    Dr Mark James Cowley
    Chang DK; Jamieson N; Johns A; Scarlett CJ; Pajic M; Biankin AV; et A, 2013, 'Histomolecular phenotypes and outcome in adenocarcinoma of the ampulla of vater', Journal of Clinical Oncology, vol. 31, pp. 1348 - 1356, http://dx.doi.org/10.1200/JCO.2012.46.8868
    Journal articles | 2013
    Dr Mark James Cowley
    Chin VT; Nagrial A; Chantrill LA; Chang DK; Chou A; Humprhis J; Cowley M; Wu J; DiPetro R; Watson C; Spielman C; Steinmann A; Pinese M; Pettitt J; Johns A; Waddell N; Grimmond S; Timpson P; Biankin AV; Pajic M, 2013, 'From functional genomics to precision medicine: The therapeutic potential of targeting ROCK signaling in pancreatic cancer.', Journal of Clinical Oncology, vol. 31, pp. e15029 - e15029, http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e15029
    Journal articles | 2012
    Dr Mark James Cowley
    Perez-Mancera P; Rust AG; van der Weyden L; Kristiansen GO; Kristiansen GO; Li A; Sarver AL; Silverstein KAT; Grutzmann R; Aust DE; Rummele P; Knosel T; Herd C; Stemple D; Kettleborough R; Brosnan JA; Li A; Richard GM; Knight S; Yu J; Stegeman S; Collier LS; Ten Hoeve JJ; De Ridder J; Klein A; Goggins M; Hruban R; Chang D; Biankin AV; Pinese M; Grimmond S; Wessels L; Wood S; Iacobuzio-donahue CA; Pilarsky CP; Largaespada DA; Adams DJ; Tuveson DA, 2012, 'The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma', Nature, vol. 486, pp. 266 - 270, http://dx.doi.org/10.1038/nature11114
    Journal articles | 2012
    Dr Mark James Cowley
    Walters SN; James C; Jung M-H; Weinberg A; Cowley MJ; Kaplan W; Hawthorne WJ; O'Connell PJ; Weir G; Grey ST, 2012, 'A Pre-Existent Hypoxic Gene Signature Predicts Impaired Islet Graft Function and Glucose Homeostasis', TRANSPLANTATION, vol. 94, pp. 710 - 710, http://dx.doi.org/10.1097/00007890-201211271-01394
    Journal articles | 2012
    Dr Mark James Cowley
    Cowley M; Walters S; Zammit N; Hawthorne W; Gunton J; Chapman J; Oconnell P; Grey ST, 2012, 'Human Islets Express a Marked Pro-Inflammatory Molecular Signature Prior to Transplantation', TRANSPLANTATION, vol. 94, pp. 162 - 162, http://dx.doi.org/10.1097/00007890-201211271-00300
    Journal articles | 2011
    Dr Mark James Cowley
    Tam CM; Heilbronn L; Henegar C; Wong M; Cowell CT; Cowley MJ; Kaplan W; Clement K; Baur LA, 2011, 'An early inflammatory gene profile in visceral adipose tissue in children', International Journal of Pediatric Obesity, vol. 6, pp. e360 - e363, http://dx.doi.org/10.3109/17477166.2011.575152
    Journal articles | 2011
    Dr Mark James Cowley
    Bhadri V; Cowley MJ; Kaplan W; Trahair TN; Lock RB, 2011, 'Evaluation of the NOD/SCID xenograft model for glucocorticoid-regulated gene expression in childhood B-cell precursor acute lymphoblastic leukemia', BMC Genomics, vol. 12, pp. 1 - 13, http://dx.doi.org/10.1186/1471-2164-12-565
    Journal articles | 2010
    Dr Mark James Cowley
    Bhadri VA; Cowley MJ; Kaplan W; Lock RB, 2010, 'The NOD/SCID Xenograft Model Provides Clinically-Relevant Insights Into Glucocorticoid-Induced Gene Expression In Childhood B-Cell Precursor Acute Lymphoblastic Leukemia (ALL)', Blood, vol. 116, pp. 2493 - 2493, http://dx.doi.org/10.1182/blood.v116.21.2493.2493
    Journal articles | 2010
    Dr Mark James Cowley
    Grey S; Cowley M; Cantley J; Weinberg A; Hawthorne W; Alexander S; Gunton J; Loudovaris T; Williams L; Patel A; Walters SN; Kaplan W; OʼConnell PJ, 2010, 'HUMAN ISLETS PREPARED FOR CLINICAL TRANSPLANTATION EXHIBIT AN ALTERED GLYCOLYTIC PROFILE', Transplantation Journal, vol. 90, pp. 373 - 373, http://dx.doi.org/10.1097/00007890-201007272-00689
    Journal articles | 2009
    Dr Mark James Cowley
    Brown RD; Li J; Sze D; Cowley M; Kaplan W; Yang S; Aklilu E; Kabani K; Ho PJ; Loh YS; Yamagishi T; Mo S; Chen Y; Joshua D, 2009, 'Clonal Expansions of Cytotoxic T Cells in the Blood of Patients with Waldenstrom's Macroglobulinaemia Are Anergic and Disappear After Nucleoside Analogue Therapy.', Blood, vol. 114, pp. 1820 - 1820, http://dx.doi.org/10.1182/blood.v114.22.1820.1820
    Journal articles | 2008
    Dr Mark James Cowley
    Grey ST; Weinberg A; Cowley MJ; Walters SN; Hawthorne WJ; Patel A; Jimenez-Vera E; Williams L; Tabor B; Kaplan W; O'Connell PJ, 2008, 'GENE EXPRESSION PROFILING OF HUMAN ISLETS TO DETERMINE PREDICTORS OF CLINICAL ISLET TRANSPLANT OUTCOMES', Transplantation, vol. 86, pp. 291 - 292, http://dx.doi.org/10.1097/01.tp.0000331928.59075.f3
    Journal articles |
    Dr Mark James Cowley
    Shale C; Baber J; Cameron DL; Wong M; Cowley MJ; Papenfuss AT; Cuppen E; Priestley P, 'Unscrambling cancer genomes via integrated analysis of structural variation and copy number', , http://dx.doi.org/10.1101/2020.12.03.410860
  • Conference Papers | 2021
    Dr Mark James Cowley
    Mueller SA; Gauthier M-EA; Blackburn J; Grady JP; Kratisek S; Dettmer MS; Dahlstrom JE; Lee CS; Luk P; Yu B; Giger R; Kummerfeld S; Clark J; Gupta R; Cowley MJ, 2021, 'Molecular patterns in salivary duct carcinoma identify prognostic subgroups', in ORAL ONCOLOGY, ELSEVIER, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000669389300007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2021
    Dr Mark James Cowley
    Mayoh C; Terry RL; Wong M; Lau LM; Khuong-Quang DA; Mateos MK; Tyrrell V; Haber M; Ziegler DS; Cowley MJ; Trapani JA; Neeson PJ; Ekert PG, 2021, 'Abstract 3044: The unexplored immune landscape of high-risk pediatric cancers', in Tumor Biology, American Association for Cancer Research, presented at Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA, http://dx.doi.org/10.1158/1538-7445.am2021-3044
    Conference Papers | 2021
    Dr Mark James Cowley
    Vijayasubhash V, 2021, 'Analysis of DNA minimal residual disease markers in pediatric solid cancers using quantitative real time PCR and droplet digital PCR', in Analysis of DNA minimal residual disease markers in pediatric solid cancers using quantitative real time PCR and droplet digital PCR, presented at AACR 2021, http://dx.doi.org/10.1158/1538-7445.AM2021-639
    Conference Abstracts | 2020
    Dr Mark James Cowley
    Dong-Anh K-Q; Nagabushan S; Manoharan N; Arndt G; Barahona P; Cowley MJ; Ekert PG; Failes T; Bolanos NF; Gauthier M; Gifford AJ; Haber M; Kumar A; Lock RB; Marshall GM; Mayoh C; Mould E; Norris MD; Gopalakrishnan A; Omer N; Trebilcock P; Trahair TN; Tsoli M; Tucker K; Wong M; Tyrrell V; Lau L; Ziegler DS, 2020, 'PRECISION MEDICINE FOR PAEDIATRIC HIGH-GRADE DIFFUSE MIDLINE GLIOMAS - RESULTS FROM THE ZERO CHILDHOOD CANCER COMPREHENSIVE PRECISION MEDICINE PROGRAM', in NEURO-ONCOLOGY, OXFORD UNIV PRESS INC, Vol. 22, pp. 302 - 302, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000606080100118&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2020
    Dr Mark James Cowley
    Frazier AE; Compton AG; Kishita Y; Hock DH; Welch AE; Amarasekera SSC; Rius R; Formosa LE; Imai-Okazaki A; Francis D; Wang M; Lake NJ; Tregoning S; Jabbari JS; Lucattini A; Nitta R; Ohtake A; Murayama K; Amor DJ; McGillivray G; Wong FY; van der Knaap MS; Vermeulen RJ; Wiltshire EJ; Fletcher JM; Lewis B; Baynam G; Ellaway C; Balasubramaniam S; Bhattacharya K; Freckmann ML; Taft RJ; Sadedin S; Cowley MJ; Minoche AE; Calvo SE; Mootha VK; Ryan MT; Okazaki Y; Stroud DA; Simons C; Christodoulou J; Thorburn DR, 2020, 'Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 56 - 58, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000598482600115&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2020
    Dr Mark James Cowley
    Haber M; Cowley MJ; Ekert P; Lau L; Mould E; Gifford A; Lock RB; Marshall GM; Norris MD; O'Brien T; Dong AKQ; Thomas D; Trahair T; Tucker K; Ziegler DS; Tyrrell V, 2020, 'Zero Childhood Cancer: A comprehensive precision medicine platform for children with high-risk cancer in Australia', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, ELECTR NETWORK, Vol. 80, presented at AACR Annual Meeting, ELECTR NETWORK, 22 June 2020 - 24 June 2020, http://dx.doi.org/10.1158/1538-7445.AM2020-SY09-02
    Conference Abstracts | 2020
    Dr Mark James Cowley
    Barahona P; Fletcher J; Fuentes-Bolanos N; Gauthier M-E; Haber M; Lock RB; Marshall GM; Mayoh C; Mould E; Nagabushan S; Norris M; O’Brien T; Sherstyuk A; Thomas D; Trahair T; Tucker K; Warby M; Wong M; Ziegler DS; Tyrrell VJ; Ekert P; Cowley MJ; Lau L; Quang D-AK, 2020, 'Abstract A52: Zero Childhood Cancer (ZERO): A comprehensive precision medicine platform for children with high-risk cancer', in Poster Presentations - Proffered Abstracts, American Association for Cancer Research, presented at Abstracts: AACR Special Conference on the Advances in Pediatric Cancer Research; September 17-20, 2019; Montreal, QC, Canada, http://dx.doi.org/10.1158/1538-7445.pedca19-a52
    Conference Abstracts | 2020
    Dr Mark James Cowley
    Sullivan P; Mayoh C; Wong-Erasmus M; Gayevskiy V; Beecroft S; Pinese M; Oates E; Cowley M, 2020, 'Introme identifies non-canonical splice-altering variants in neuromuscular patients resulting in multiple new genetic diagnoses', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, ELECTR NETWORK, Vol. 30, pp. S144 - S144, presented at 25th International Congress of the World-Muscle-Society (WMS), ELECTR NETWORK, 28 September 2020 - 02 October 2020, http://dx.doi.org/10.1016/j.nmd.2020.08.330
    Conference Papers | 2020
    Dr Mark James Cowley
    Barahona P; Sherstyuk A; Cowley M; Ekert P; Kirk J; Khuong-Quang D-A; Kumar A; Lau L; Mayoh C; Marshall G; Moud E; O’Brien T; Pinese M; Thomas D; Tyrell V; Ziegler D; Haber M; Tucker K; Fuentes-Bolanos NA; Warby M, 2020, 'Abstract A03: Prevalence and spectrum of germline mutations in children with high-risk cancer', in Poster Presentations - Proffered Abstracts, American Association for Cancer Research, presented at Abstracts: AACR Special Conference on the Advances in Pediatric Cancer Research; September 17-20, 2019; Montreal, QC, Canada, http://dx.doi.org/10.1158/1538-7445.pedca19-a03
    Conference Abstracts | 2020
    Dr Mark James Cowley
    Anjaria M; Strbenac D; McCabe M; Satgunaseelan L; Grady J; Lo K; Chan C-L; Palme C; Yang J; Cowley M; Clark J; Gupta R, 2020, 'Exploring the Genetic Differences in Oral Squamous Cell Carcinoma in Patients with Different Demographic and Risk Factor Profiles', in MODERN PATHOLOGY, SPRINGERNATURE, Los Angeles, CA, Vol. 33, pp. 1175 - 1178, presented at 109th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Los Angeles, CA, 29 February 2020 - 05 March 2020, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000518328902378&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2020
    Dr Mark James Cowley
    Anjaria M; Strbenac D; McCabe M; Satgunaseelan L; Grady J; Lo K; Chan C-L; Palme C; Yang J; Cowley M; Clark J; Gupta R, 2020, 'Exploring the Genetic Differences in Oral Squamous Cell Carcinoma in Patients with Different Demographic and Risk Factor Profiles', in LABORATORY INVESTIGATION, NATURE PUBLISHING GROUP, Los Angeles, CA, Vol. 100, pp. 1175 - 1178, presented at 109th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Los Angeles, CA, 29 February 2020 - 05 March 2020, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000518328802378&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Other | 2019
    Dr Mark James Cowley
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), http://dx.doi.org/10.1016/j.ajhg.2019.03.016
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Thavaneswaran S; Ballinger ML; Grady J; Cowley M; Joshua A; Sebastian L; Collignon E; Silvestri A; Kansara M; Pinese M; Sjoquist KM; Hague W; Lee CK; Simes J; Thomas DM, 2019, 'The Cancer Molecular Screening and Therapeutics Program (MoST): Actionable mutation frequencies in a population with rare and less common cancers.', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, Chicago, IL, Vol. 37, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), Chicago, IL, 31 May 2019 - 04 June 2019, http://dx.doi.org/10.1200/JCO.2019.37.15_suppl.3136
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Haber M; Gamble L; Xiao L; Pandher R; Somers K; Murray J; Khan A; Yu D; Franshaw L; Burns MR; Tsoli M; Ehteda A; Cesare A; O'Connor A; Mussai F; de Santo C; Cheng P; Korotchkina L; Gurova K; Tyrrell V; Mould E; Lau L; Dong AKQ; Mayoh C; Arndt G; Barahona P; Failes T; Fletcher J; Fuentes-Bolanos N; Gauthier M-E; Gifford A; Grebert-Wade D; Kamili A; Kumar A; Nagabushan S; O'Brien T; Strong P; Sherstyuk A; Thomas D; Trahair T; Tucker K; Warby M; Wong M; Xie J; Evans K; Lock R; Chernova OB; Henderson M; Gudkov AV; Ekert P; Cowley MJ; Marshall GM; Ziegler DS; Norris MD, 2019, 'Molecular targeted therapies and precision medicine for children with neuroblastoma and other refractory malignancies', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, Montreal, CANADA, Vol. 80, pp. 23 - 24, presented at AACR Special Conference on the Advances in Pediatric Cancer Research, Montreal, CANADA, 17 September 2019 - 20 September 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000551367400013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Gothenburg, SWEDEN, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, 15 June 2019 - 18 June 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313903088&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Barahona P; Sherstyuk A; Cowley M; Ekert P; Kirk J; Dong-Anh K-Q; Kumar A; Lau L; Mayoh C; Marshall G; Moud E; O'Brien T; Pinese M; Thomas D; Tyrell V; Ziegler D; Haber M; Tucker K; Fuentes-Bolanos NA; Warby M, 2019, 'Prevalence and spectrum of germline mutations in children with high-risk cancer', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, Montreal, CANADA, Vol. 80, pp. 42 - 43, presented at AACR Special Conference on the Advances in Pediatric Cancer Research, Montreal, CANADA, 17 September 2019 - 20 September 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000551367400048&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Barahona P; Fletcher J; Fuentes-Bolanos N; Gauthier M-E; Haber M; Lock RB; Marshall GM; Mayoh C; Mould E; Nagabushan S; Norris M; O'Brien T; Sherstyuk A; Thomas D; Trahair T; Tucker K; Warby M; Wong M; Ziegler DS; Tyrrell VJ; Ekert P; Cowley MJ; Lau L; Quang D-AK, 2019, 'Zero Childhood Cancer (ZERO): A comprehensive precision medicine platform for children with highrisk cancer', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, Montreal, CANADA, Vol. 80, pp. 70 - 71, presented at AACR Special Conference on the Advances in Pediatric Cancer Research, Montreal, CANADA, 17 September 2019 - 20 September 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000551367400096&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Fuentes-Bolanos N; Warby M; Barahona P; Sherstyuk A; Cowley M; Ekert P; Kirk J; Khuong-Quang DA; Amit K; Lau L; Mayoh C; Marshall G; Mould E; O'Brien TA; Pinese M; Thomas D; Tyrrell V; Ziegler D; Harber M; Tucker KM, 2019, 'Prevalence and Spectrum of Germline Mutations in Children with High-Risk Cancer', in PEDIATRIC BLOOD & CANCER, WILEY, Vol. 66, pp. S503 - S504, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488458005160&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Dr Mark James Cowley
    Rius R; Riley LG; Van Bergen NJ; Compton AG; Amor DJ; Kava M; Balasubramaniam S; Fanjul-Fernandez M; Cowley M; Fahey M; Tan TY; Thorburn DR; Christodoulou J, 2019, 'Functional consequences of bi-allelic PNPT1 variants associated with multisystemic disease', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Gothenburg, SWEDEN, Vol. 27, pp. 1354 - 1355, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, 15 June 2019 - 18 June 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313902153&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Tyrrell V; Lau L; Arndt G; Barahona P; Cowley M; Ekert P; Failes T; Fletcher J; Gifford A; Haber M; Kamili A; Kumar A; Lock R; Marshall G; Mayoh C; Mead S; Mould E; O'Brien T; Pinese M; Khuong-Quang DA; Thomas D; Trahair T; Tsoli M; Tucker K; Wharby M; Wong M; Xie J; Ziegler D, 2018, 'Zero childhood cancer – Accelerating translation of experimental oncology: Better matching drug to target', in Pathology, Elsevier BV, Vol. 50, pp. S31 - S31, http://dx.doi.org/10.1016/j.pathol.2017.12.072
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Ziegler D; Tsoli M; Tyre V; Cohn R; Lau L; Cox M; Cowley M; Ekert P; Marshall G; Haber M, 2018, 'POTENT CLINICAL AND RADIOLOGICAL RESPONSE TO LAROTRECTINIB IN FIRST CASE OF TRK FUSION HIGH GRADE GLIOMA', in NEURO-ONCOLOGY, OXFORD UNIV PRESS INC, Denver, CO, Vol. 20, pp. 67 - 67, presented at 18th International Symposium on Pediatric Neuro-Oncology (ISPNO), Denver, CO, 30 June 2018 - 03 July 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000438339000180&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Ziegler D; Tsoli M; Tyrell V; Cohn R; Lau L; Cox M; Cowley M; Ekert P; Marshall G; Haber M, 2018, 'EAPH-09. POTENT CLINICAL AND RADIOLOGICAL RESPONSE TO LAROTRECTINIB IN FIRST CASE OF TRK FUSION HIGH GRADE GLIOMA', in Neuro-Oncology, Oxford University Press (OUP), Vol. 20, pp. i67 - i67, http://dx.doi.org/10.1093/neuonc/noy059.178
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche A; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger ME; Rosenfeld JA; Xiao R; Cho MT; Henderson LB; Sacoto MJG; Begtrup A; Hamad M; Shinawi M; Andrews M; Jones MC; Lindstrom K; Kayani S; Snyder M; Villanueva M; Schteinschnaider A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko L; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2018, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Milan, ITALY, Vol. 27, pp. 213 - 214, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101215&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Luk PP; Gayevskiy V; Ashford BG; Iyer NG; Ranson M; Low T-HH; Shannon K; Ch'ng S; Palme CE; Clark J; Cowley M; Gupta R, 2018, 'Comparison of Clinically Relevant Somatic Mutations in Primary and Metastatic Head and Neck Cutaneous Squamous Cell Carcinoma', in LABORATORY INVESTIGATION, NATURE PUBLISHING GROUP, Vancouver, CANADA, Vol. 98, pp. 480 - 480, presented at 107th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Vancouver, CANADA, 17 March 2018 - 23 March 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000459341002216&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Luk PP; Gayevskiy V; Ashford BG; Iyer NG; Ranson M; Low T-HH; Shannon K; Ch'ng S; Palme CE; Clark J; Cowley M; Gupta R, 2018, 'Comparison of Clinically Relevant Somatic Mutations in Primary and Metastatic Head and Neck Cutaneous Squamous Cell Carcinoma', in MODERN PATHOLOGY, NATURE PUBLISHING GROUP, Vancouver, CANADA, Vol. 31, pp. 480 - 480, presented at 107th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Vancouver, CANADA, 17 March 2018 - 23 March 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000429308603216&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Barnet M; Jackson K; Gao B; Nagrial A; Boyer M; Cooper W; Hui R; Linton A; Tattersall M; Russell A; Gibson G; Cebon J; Long G; Menzies A; Scolyer R; Lacaze P; Brink R; Peters T; Cowley M; Gayevskiy V; Thomas D; Pinese M; Blinman P; Kao S; Goodnow C, 2018, 'Exploring the Germ-Line Contribution to Exceptional Response to PD-1/PD-L1 Inhibition in Patients with NSCLC by Whole Genome Sequencing', in JOURNAL OF THORACIC ONCOLOGY, ELSEVIER SCIENCE INC, Vol. 13, pp. S529 - S529, http://dx.doi.org/10.1016/j.jtho.2018.08.726
    Conference Papers | 2018
    Dr Mark James Cowley
    Barnet MB; Jackson KJ; Gao B; Nagrial AM; Boyer MJ; Cooper WA; Hui R; Linton A; Tattersall MH; Gibson G; Cebon J; Long GV; Menzies AM; Scolyer RA; Lacaze P; Brink R; Peters T; Cowley M; Gayevskiy V; Thomas DM; Pinese M; Blinman P; Kao S; Goodnow CC, 2018, 'Exploring the germ-line contribution to exceptional response to PD-1/PD-L1 inhibition in patients with metastatic non-small-cell lung cancer by whole genome sequencing', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, Chicago, IL, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), Chicago, IL, 14 April 2018 - 18 April 2018, http://dx.doi.org/10.1158/1538-7445.AM2018-LB-121
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Thavaneswaran S; Sebastian L; Ballinger M; Cowley M; Grady J; Joshua A; Lee C; Sjoquist K; Hague W; Simes J; Thomas D, 2018, 'The cancer molecular screening and therapeutics program (MoST): A molecular screening platform with multiple, parallel, signal-seeking therapeutic substudies', in Annals of oncology : official journal of the European Society for Medical Oncology, OXFORD UNIV PRESS, Munich, GERMANY, Vol. 29, pp. viii147, presented at 43rd ESMO Congress (ESMO), Munich, GERMANY, 19 October 2018 - 23 October 2018, http://dx.doi.org/10.1093/annonc/mdy279.434
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Lundie B; Minoche AE; Gayevskiy V; Lee E; Ewans L; Hollway G; Ohnesorg T; Sherstyuk A; Dinger M; Cowley MJ; Burnett L, 2018, 'Clinical utility of copy number variant (CNV) detection by whole genome sequencing (WGS)', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Milan, ITALY, Vol. 27, pp. 502 - 502, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104146&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Barratt-Ross S; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C, 2018, 'Whole genome sequencing improves genetic testing outcomes in hypertrophic cardiomyopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Milan, ITALY, Vol. 27, pp. 843 - 844, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313106185&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    McCabe MJ; Pinese M; Sheriff N; Fazekas M; McCormack AI; Dinger ME; Cowley MJ, 2018, 'Whole genome - and targeted capture - sequencing analysis of dual lung metastases and circulating tumour DNA (ctDNA) in a rare Primary Adrenocortical Carcinoma (ACC) case', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400112&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Ekert P; Wong M; Mould E; Gifford A; Norris M; Warby M; Trahair T; Tucker K; Ziegler D; Marshall G; O'Brien T; Haber M; Vanessa T; Cowley M, 2018, 'Zero Childhood Cancer: A Comprehensive Precision Medicine Platform for Children with High-Risk Cancer', in PEDIATRIC BLOOD & CANCER, WILEY, Vol. 65, pp. S643 - S644, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000445195005221&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Balasubramaniam S; Thorburn DR; Bahlo M; Sue CM; Coman D; Kava M; Bhattacharya K; Ellaway CJ; Christodoulou J, 2018, 'Next generation sequencing (NGS) for mitochondrial respiratory chain disorders (MRCD): new genes, cautionary tales and lessons learnt', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Milan, ITALY, Vol. 27, pp. 198 - 199, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101187&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Zilberg C; Gupta R; Lee MW; Ashford BG; Ranson M; Low T-HH; Ch'ng S; Cowley M; Iyer NG; Palme CE; Clark J; Yu B, 2018, 'Somatic Mutations in Head and Neck Cutaneous Squamous Cell Carcinoma', in LABORATORY INVESTIGATION, NATURE PUBLISHING GROUP, Vancouver, CANADA, Vol. 98, pp. 492 - 492, presented at 107th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Vancouver, CANADA, 17 March 2018 - 23 March 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000459341002255&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dr Mark James Cowley
    Zilberg C; Gupta R; Lee MW; Ashford BG; Ranson M; Low T-HH; Ch'ng S; Cowley M; Iyer NG; Palme CE; Clark J; Yu B, 2018, 'Somatic Mutations in Head and Neck Cutaneous Squamous Cell Carcinoma', in MODERN PATHOLOGY, NATURE PUBLISHING GROUP, Vancouver, CANADA, Vol. 31, pp. 492 - 492, presented at 107th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP), Vancouver, CANADA, 17 March 2018 - 23 March 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000429308603255&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2017
    Dr Mark James Cowley
    Lim SH-S; Ip E; Chua W; Ng W; Henderson C; Shin J-S; Harris BHL; Barberis A; Cowley M; De Souza PL; Spring K, 2017, 'Serum microRNA expression during neoadjuvant chemoradiation for rectal cancer.', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, Chicago, IL, presented at 53rd Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), Chicago, IL, 02 June 2017 - 06 June 2017, http://dx.doi.org/10.1200/JCO.2017.35.15_suppl.e15081
    Conference Posters | 2017
    Dr Mark James Cowley
    Hess D; Sebastian LT; Sjoquist KM; Lee CK; Hague W; Miller D; Cowley M; Qiu MR; Fox SB; Joshua AM; Simes J; Thomas DM, 2017, 'The Molecular Screening and Therapeutics (MoST) Program: A precision medicine framework for biomarker-driven signal seeking clinical studies for rare cancers.', Chicago, IL, Vol. 35, presented at 53rd Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), Chicago, IL, 02 June 2017 - 06 June 2017, http://dx.doi.org/10.1200/JCO.2017.35.15_suppl.TPS2621
    Conference Abstracts | 2017
    Dr Mark James Cowley
    Sheriff N; Pinese M; Fazekas M; McCabe M; Cowley M; McCormack AI, 2017, 'TrACCing the tumour', in CLINICAL ENDOCRINOLOGY, WILEY-BLACKWELL, Vol. 86, pp. 60 - 60, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000393453600153&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2016
    Dr Mark James Cowley
    Lim SH; De Souza P; Chua W; Ng W; Harris B; Cowley MJ; Spring K, 2016, 'Change in serum microRNA expression during neoadjuvant chemoradiation for rectal cancer', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, New Orleans, LA, presented at 107th Annual Meeting of the American-Association-of-Cancer-Research (AACR), New Orleans, LA, 16 April 2016 - 20 April 2016, http://dx.doi.org/10.1158/1538-7445.AM2016-1942
    Conference Abstracts | 2016
    Dr Mark James Cowley
    McCabe M; Cowley M; De Sousa S; Pinese M; Gayevskiy V; Minoche A; McCormack A; Dinger M, 2016, 'Establishment of the Southern Hemisphere's First Clinically Accredited Whole Genome Sequencing Facility, and the Development of a Gene Sequencing Panel for Application to Disparate Cancer Types Including Pituitary', in HORMONE RESEARCH IN PAEDIATRICS, KARGER, Vol. 86, pp. 35 - 35, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388504100071&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2016
    Dr Mark James Cowley
    Mallawaarachchi A; Hort Y; Cowley M; Shine J; Furlong T, 2016, 'EXTENDED ANALYSIS OF AN AUSTRALIAN COHORT OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PATIENTS BY WHOLE GENOME SEQUENCING', in NEPHROLOGY, WILEY-BLACKWELL, Vol. 21, pp. 90 - 91, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383590600111&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Presentations | 2015
    Dr Mark James Cowley
    Mallawaarachchi A; Hort Y; Mccabe M; Cowley M; Shine J; Furlong T, 2015, 'AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE - UTILISATION OF WHOLE GENOME SEQUENCING TO IDENTIFY PKD1 AND PKD2 MUTATIONS', Vol. 20, pp. 49 - 49, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360217000116&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Posters | 2015
    Dr Mark James Cowley
    Gray P; Buckley M; Ziegler J; Lo W; Elakise G; Mackintosh R; Mullan G; O'Brien T; Walsh C; Minoche A; Zhu Y; Gayevskiy V; Lee E; Cowley M; Dinger M; Roscioli T, 2015, 'MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF HETEROZYGOUS FAS DELETION', Vol. 45, pp. 21 - 21, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360834700069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Presentations | 2015
    Dr Mark James Cowley
    McCabe M; De Sousa S; Cowley M; Dinger M; McCormack A, 2015, 'Next generation sequencing: towards a new clinical frontier in the diagnosis and treatment of pituitary tumours', Vol. 35, presented at European Society of Paediactric Endocrinology, Barcelona, 01 February 2015 - 01 February 2015, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000209805102035&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a
    Conference Posters | 2015
    Dr Mark James Cowley
    Manders PM; Cowley M; McCabe M; Madigan M; Munoz-Erazo L; Conway RM; Epstein RJ, 2015, 'MOLECULARLY-TARGETED AND IMMUNE STRATEGIES FOR PATIENTS WITH DRUG-RESISTANT UVEAL MELANOMA: AN UNMET AREA OF NEED IN PERSONALIZED ONCOLOGY', Vol. 11, pp. 58 - 58, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000357957300043&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Presentations | 2014
    Dr Mark James Cowley
    Chou A; Waddell N; Cowley MJ; Grimmond SM; Apgi ; Gill AJ; Morey AL; Biankin AV, 2014, '10. Clinicopathological features of her2 amplified pancreatic cancer.', Vol. 46 Suppl 1, pp. S109 - S110, England, http://dx.doi.org/10.1097/01.PAT.0000443700.20071.fa
    Conference Presentations | 2014
    Dr Mark James Cowley
    Pinho AV; Grimont A; Cowley MJ; Augereau C; Mawson A; Giry-Laterriere M; Van den Steen G; Waddell N; Pajic M; Sempoux C; Wu J; Grimmond SM; Biankin AV; Lemaigre FP; Jacquemin P; Rooman I, 2014, 'SOX9 regulates EGFR/ERBB signaling in pancreatic cancer', Vol. 74, presented at 105th Annual Meeting of the American-Association-for-Cancer-Research (AACR), San Diego, CA, 05 April 2014 - 09 April 2014, http://dx.doi.org/10.1158/1538-7445.AM2014-LB-73
    Conference Papers | 2014
    Dr Mark James Cowley
    Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Prague, CZECH REPUBLIC, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, Prague, CZECH REPUBLIC, 29 October 2014 - 01 November 2014, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2014
    Dr Mark James Cowley
    Gray PE; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Kashef S; Cowley M; Dinger M; Buckley MF; Ziegler JB; Roscioli T, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2014
    Dr Mark James Cowley
    Constantinescu L; Cowley M; Ying K; Budd P; Lin D; Kaplan W; Dinger M, 2014, 'Implementing a clinical genomics infrastructure to sequence 18,000 human genomes per year', in CEUR Workshop Proceedings, pp. 26 - 27
    Conference Papers | 2013
    Dr Mark James Cowley
    Chang DK; Pinese M; Scarlett CJ; Pajic M; Colvin EK; Johns AL; Wu J; Cowley MJ; Humphris JL; Chou A; Nguyen NQ; Nagrial AM; Chantrill L; Chin VT; Musgrove EA; Altekruse S; Gill AJ; Kench JG; Biankin AV, 2013, 'A molecular pre-operative prognostic nomogram for resectable pancreatic cancer', in Cancer Research, American Association for Cancer Research, Washington, DC, presented at 104th Annual Meeting of the American-Association-for-Cancer-Research (AACR), Washington, DC, 06 April 2013 - 10 April 2013, http://dx.doi.org/10.1158/1538-7445.AM2013-1156
    Conference Papers | 2013
    Dr Mark James Cowley
    Suryani S; Carol H; Frimantas V; Bornhauser B; Sarmah C; Chonghaile T; Evans K; Tonna E; Jones L; Letai A; Bourquin J-P; Houghton PJ; Smith MA; Lock RB, 2013, 'Cell and molecular determinants of in vivo efficacy of the BH3 mimetic ABT-263 against pediatric acute lymphoblastic leukemia xenografts', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, San Diego, CA, presented at AACR Special Conference on Pediatric Cancer at the Crossroads - Translating Discovery into Improved Outcomes, San Diego, CA, 03 November 2013 - 06 November 2013, http://dx.doi.org/10.1158/1538-7445.PEDCAN-B26
    Conference Abstracts | 2013
    Dr Mark James Cowley
    Chin VT; Nagrial A; Chantrill LA; Chang DK; Chou A; Humprhis J; Cowley M; Wu J; DiPetro R; Watson C; Spielman C; Steinmann A; Pinese M; Pettitt J; Johns A; Waddell N; Grimmond S; Timpson P; Biankin AV; Pajic M, 2013, 'From functional genomics to precision medicine: The therapeutic potential of targeting ROCK signaling in pancreatic cancer.', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, Chicago, IL, Vol. 31, presented at 49th Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), Chicago, IL, 31 May 2013 - 04 June 2013, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000335419603693&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Posters | 2013
    Dr Mark James Cowley
    Chin V; Nagrial A; Chang D; Chantrill L; Cowley M; Wu J; Spielman C; Steinmann A; Pinese M; Pettitt J; Johns A; Gill A; Timpson P; Biankin A; Pajic M, 2013, 'From function genomics to precision medicine: the therapeutic potential of targeting rock signalling in pancreatic cancer', Chicago, IL, Vol. 9, pp. 53 - 53, presented at ASCO Annual Meeting, Chicago, IL, 31 May 2013 - 04 June 2013, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000329462300024&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2012
    Dr Mark James Cowley
    Maritz M; Cowley MJ; Kaplan W; Kavallaris M; MacKenzie KL, 2012, 'Repression of Essential Telomerase Components Mediates Anti-proliferative Effects in Isogenic Immortal and Tumorigenic Cells, but not Normal Cells', in EUROPEAN JOURNAL OF CANCER, ELSEVIER SCI LTD, Barcelona, SPAIN, Vol. 48, pp. S79 - S80, presented at 22nd Biennial Congress of the European-Association-for-Cancer-Research, Barcelona, SPAIN, 07 July 2012 - 10 July 2012, http://dx.doi.org/10.1016/S0959-8049(12)71017-1
    Conference Abstracts | 2012
    Dr Mark James Cowley
    Kan C; Hahn M; Cowley M; Kaplan W; Howell V; Marsh D, 2012, 'Genomic Instability is a Hallmark Feature of Serous Epithelial Ovarian Cancer and May Contribute to MicroRNA Dysregulation', in EUROPEAN JOURNAL OF CANCER, ELSEVIER SCI LTD, Barcelona, SPAIN, Vol. 48, pp. S123 - S123, presented at 22nd Biennial Congress of the European-Association-for-Cancer-Research, Barcelona, SPAIN, 07 July 2012 - 10 July 2012, http://dx.doi.org/10.1016/S0959-8049(12)71179-6
    Conference Abstracts | 2012
    Dr Mark James Cowley
    Pajic M; Chang DK; Kassahn KS; Wu J; Cowley M; Waddell N; Johns A; Grimmond SM; Biankin AV, 2012, 'Proffered Paper: Testing Individualised Treatment Strategies in Preclinical Models of Pancreatic Cancer', in EUROPEAN JOURNAL OF CANCER, ELSEVIER SCI LTD, Barcelona, SPAIN, Vol. 48, pp. S22 - S22, presented at 22nd Biennial Congress of the European-Association-for-Cancer-Research, Barcelona, SPAIN, 07 July 2012 - 10 July 2012, http://dx.doi.org/10.1016/S0959-8049(12)70795-5
    Conference Papers | 2012
    Dr Mark James Cowley
    Chang DK; Chou A; Nguyen NQ; Nagrial AM; Chantrill LA; Chin VT; Musgrove EA; Sutherland RL; Gill AJ; Altekruse S; Kench JG; Scarlett CJ; Biankin AV; Pinese M; Pajic M; Colvin EK; Johns AL; Humphris JL; Wu J; Cowley MJ, 2012, 'Abstract B64: A molecular preoperative prognostic nomogram for resectable pancreatic cancer.', in Tumor Biology, American Association for Cancer Research, presented at Abstracts: AACR Special Conference on Pancreatic Cancer: Progress and Challenges; June 18-21, 2012; Lake Tahoe, NV, http://dx.doi.org/10.1158/1538-7445.panca2012-b64
    Conference Presentations | 2012
    Dr Mark James Cowley
    Humphris J; Tao J; Chang D; Johns A; Cowley MJ; Pajic M; Jones M; Simpson S; Mead S; Biankin A, 2012, 'Somatic mutations in pancreatic ductal adenocarcinoma using amplicon sequencing from formalin fixed paraffin embedded tissue', Vol. 27, pp. 20 - 20, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308642600042&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2012
    Dr Mark James Cowley
    Humphris J; Johns A; Simpson S; Chang D; Cowley MJ; Pajic M; Jones M; Simpson S; Mead S; Biankin A, 2012, 'Risk factors for pancreatic cancer in patients with and without a family history of pancreatic cancer', in JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, WILEY-BLACKWELL, Vol. 27, pp. 127 - 127, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308642600262&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Dr Mark James Cowley
    Zhao JT; Cowley MJ; Lee P; Birzniece V; Kaplan W; Ho KKY, 2010, 'Growth Hormone Regulation of Lipid Metabolism in Adipose Tissue: A Microarray Analysis in Hypopituitary Men.', in ENDOCRINE REVIEWS, ENDOCRINE SOC, San Diego, CA, pp. S2491 - S2491, presented at 92nd Meeting and Expo of the Endocrine Society (ENDO 2010), San Diego, CA, 19 June 2010 - 22 June 2010, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281989400198&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Dr Mark James Cowley
    Bhadri VA; Cowley MJ; Kaplan W; Lock RB, 2010, 'The NOD/SCID Xenograft Model Provides Clinically-Relevant Insights Into Glucocorticoid-Induced Gene Expression In Childhood B-Cell Precursor Acute Lymphoblastic Leukemia (ALL).', in BLOOD, AMER SOC HEMATOLOGY, Orlando, FL, pp. 1033 - 1034, presented at 52nd Annual Meeting of the American-Society-of-Hematology (ASH), Orlando, FL, 04 December 2010 - 07 December 2010, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000289662202716&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Dr Mark James Cowley
    Yang L; Phillips PA; Vonlaufen A; Kaplan W; Cowley M; Pirola R; Wilson J; Apte MV, 2009, 'Gene Expression Profiling of Rat Pancreatic Stellate Cells', in PANCREAS, LIPPINCOTT WILLIAMS & WILKINS, pp. 1064 - 1064, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271225300412&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Dr Mark James Cowley
    Phillips PA; Chow E; Kaplan W; Cowley M; Vonlaufen A; Yang L; Goldstein D; Pirola R; Wilson J; Apte MV, 2009, 'Gene expression profiling of human pancreatic stellate cells and their roles in pancreatic cancer progression', in JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, WILEY-BLACKWELL PUBLISHING, INC, pp. A333 - A334, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000270551200303&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Dr Mark James Cowley
    Phillips P; Chow E; Kaplan W; Cowley M; Vonlaufen A; Yang L; Xu Z; Biankin A; Goldstein D; Pirola R; Wilson J; Apte M, 2009, '41st European Pancreatic Club (EPC) Meeting: Gene Expression Profiling of Human Pancreatic Stellate Cells and Their Roles in Pancreatic Cancer Progression', in Pancreatology, pp. 427 - 543
    Conference Papers | 2009
    Dr Mark James Cowley
    Brown RD; Li J; Sze D; Cowley M; Kaplan W; Yang S; Aklilu E; Kabani K; Ho PJ; Loh YS; Yamagishi T; Mo S; Chen Y; Joshua D, 2009, 'Clonal Expansions of Cytotoxic T Cells in the Blood of Patients with Waldenstrom's Macroglobulinaemia Are Anergic and Disappear After Nucleoside Analogue Therapy.', in BLOOD, AMER SOC HEMATOLOGY, New Orleans, LA, pp. 723 - 723, presented at 51st Annual Meeting of the American-Society-of-Hematology, New Orleans, LA, 05 December 2009 - 08 December 2009, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000272725802188&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Dr Mark James Cowley
    Weinberg A; Hawthorne WJ; Cowley MJ; Kaplan W; Walters S; Connell PJO; Grey ST, 2009, 'Deliniating the genetic architecture of human islets prepared for clinical transplantation', in XENOTRANSPLANTATION, WILEY-BLACKWELL PUBLISHING, INC, Venice, ITALY, pp. 321 - 322, presented at Joint Meeting of the International-Pancreas-and-Islet-Transplant-Association/International-Xenotransplantation-Association, Venice, ITALY, 12 October 2009 - 16 October 2009, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000270430500099&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2008
    Dr Mark James Cowley
    Lin RCY; Williams RBH; Du XJ; Gao XM; Kiriazis H; Cowley MJ; Speirs HJ; Dawes IW; McMullen JR, 2008, 'MICRORNA AND MRNA EXPRESSION PROFILING IN A MOUSE MODEL OF MYOCARDIAL INFARCTION WITH ENHANCED OR DEPRESSED PI3K ACTIVITY', in HYPERTENSION, LIPPINCOTT WILLIAMS & WILKINS, Melbourne, AUSTRALIA, pp. 1111 - 1111, presented at 30th Annual Scientific Meeting of the High-Blood-Pressure-Research-Council-of-Australia, Melbourne, AUSTRALIA, 03 December 2008 - 05 December 2008, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000266239300099&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Theses / Dissertations | 2008
    Dr Mark James Cowley
    Cowley M, 2008, The effects of regulatory variation in multiple mouse tissues, phdthesis

Awards

Year Award
2004

Offered the 2004 Rising Star award for academic excellence (a graduate school academic supplementary stipend offered by the Medicine Faculty of UNSW)

2004-2007 Australian Postgraduate Award
2005

Poster award for the intelligent use of information, presented by CSIRO at the 5th Australian Microarray Conference, 2005.

2007

Travel grant to attend the Biology of Genomes conference at Cold Spring Harbor, Long Island, New York, USA in May 2007.

2008

Travel grant to attend the 8th AMATA conference at Dunedin, New Zealand in Nov 2008.

2010

Qantas Young Investigator Travel Award to attend the Biology of Genomes conference at Cold Spring Harbor, Long Island, New York, USA in May 2010.

2013 Best Oral Presentation, Sydney Bioinformatics Research Symposium
2013 Award for Outstanding Contribution, Garvan Institute of Medical Research
2014 Top Ranked Applicant, Cancer Institute NSW Early Career Fellowship
2014 People’s Choice Award for Best Oral Presentation, Garvan Postdoctoral Symposium
2014 Health Hack, bronze medal – Genome Pipeline Visualisation Platform
2015 Wildfire Award, Cancer Institute NSW (most highly cited paper of the year)
2016 Community Challenge Award, PrecisionFDA
2017 Health Hack, silver medal – Cancer Clinical Trials Matcher
2018 Wildfire Award, Cancer Institute NSW (most highly cited paper of the year)

Grants

Grant

Chief Investigators

Amount

Cancer Australia Project grant (2019-2021) Decoding the Dark Matter of the High-Risk Paediatric Cancer Genome

Cowley MJ, Pinese M, Gloss B

$577,048

PKD Foundation Project Grant

Understanding the role of somatic variation and novel mutational mechanisms in the genetic pathogenesis of PKD

Shine J, Mallawaarachchi A, Harris P, Furlong T, Cowley MJ


 

$211,432 (US$160K)

BioMedTech Horizons Program Grant (2017-2018)
A clinically-accredited and commercial-ready genome profiling platform to enable precision cancer medicine

Thomas D, Dinger M, Cowley M

$891,500

MTP Connect Project Grant (2017-2018)

Enabling Precision Cancer Clinical Trials: A molecular profiling platform for the Australian clinical trials industry

Thomas D, Dinger M, Cowley M, Winlo M, Simes J, Joshua A, Horvath L, Lemech C, Dodds E

$400,000

Kinghorn Foundation (2017-2020)

Translating genomics into the clinic

Dinger ME, Cowley MJ, Kaplan W, Groza T, Terrill B, Smith M

$20,000,000

NSW Health Early-Mid Career Fellowship (2017-2019)

Translating WGS into the clinic

Cowley M

$345,000

NHMRC Project Grant (2017-2017)
An international whole genome study to definitively map heritable risk in sarcomas

Thomas D, Powell J, Cowley M

$825,000

FSHD Global Project Grant (2016-2017)

The next wave of whole genome sequencing based FSHD diagnostics, and clinical measures of progression

Nicholson G, Cowley M, Corbett A, Kumar K, Stoll M

$330,000

Lion’s Club International Project Grant (2016-2019)

Lions Kids Cancer Genome Project

Mattick J, Palmer B, Collins J, Dziadek M, Tyrell V, Thorpe J, Marshall G, Haber M, Thomas D, Dinger M, Kaplan W, Cowley M, Botten L, Norris M, Lock R, Ziegler D, Lau L

$3,200,000

NSW Department of Health Project Grant (2016-2018)

Clinical application of whole genome studies in patients with inherited cardiomyopathies

Semsarian C, Fatkin D, Dinger M, Bagnall R, Ingles J, Cowley M, Turner C, Colley A, Berman Y, Ronan A

$320,000

NSW Department of Health Project Grant (2016-2018)

Discovery of Genes for Mendelian Disorders through Whole Genome Sequencing: from Clinic to Gene Identification

Roscioli T, Buckley M, Dinger M, Cowley M, Scofield D, Ewans L

$300,000

NSW Department of Health Project Grant (2016-2018)

Severe infantile-onset epilepsy: Leveraging Genomic Sequencing to Identify Novel Genes Neurodevelopmental Pathways and to Determine Cost-effectiveness

Roscioli T, Sachdev R, Kirk E, Palmer E, Bye A, Schofield D, Dinger M, Cowley M, Buckley M

$180,000

NSW Department of Health Project Grant (2016-2018)

Exploring the Genomic Landscape of Genetic Disorders of Bone

Zankl A, Eisman J, Croucher P, Dinger M, Cowley M, Groza T, Tam P

$180,000

NHMRC Partnership Grant APP111389 (2016-2018)

The economic and social impacts of genetic sequencing for intellectual disability

Schofield D, Roscioli T, Mattick J, Dinger M, Kasparian N, Barlow-Stewart K, Cowley M, Field M, Buckley M, Shrestha R

$1,263,576

NHMRC Project Grant APP1107671 (2016-2018)

Mechanistic and functional analysis of the Id4 proto-oncogene in breast and ovarian cancer

Swarbrick A, Carroll J, Cowley M, O'Toole S

$600,000

Cancer Institute NSW Infrastructure Grant #2016/REG/001 (2016)

The next wave of cancer genomics: resolving complex structural variants and tumour heterogeneity with linked short-read

Dinger M, Cowley M, Thomas D, Marshall G, Clark S, Hayes V, Wilkins M, Watkins N, Swarbrick A, Gallego-Ortega D

$220,482

Qiagen Project Grant (2016)

Monitoring tumour evolution through whole genome sequencing (WGS) of liquid biopsy

Cowley M

$50,000

Estate Late RT Hall Project Grant (2015-2017)

Exploring personal genomes in familial forms of atrial fibrillation and dilated cardiomyopathy

Fatkin D, Dinger M, Cowley M, Martin I

$225,000

Cancer Council NSW Project Grant APP1088778 (2015-2017)

Genetics stratification of tumours of the head, neck, pituitary and skull base – identifying prognostic and new therapeutic targets

Dinger ME, O’Toole S, McCormack A, Cowley M, Harvey R, Gupta R, McCabe M

$360,000

Ainsworth Foundation Project Grant (2015)

Uncovering the Genetic Basis of Dystonia Affecting the Head and Neck (Craniocervical Dystonia) Using Whole Genome Sequencing

Mattick J, Kumar KR, Sue C, Cowley MJ, Dinger ME

$150,000

Cancer Institute NSW Infrastructure Grant #15/REG/1-16 (2015)

Expanding basic, clinical and functional genomics cancer research at Concord Campus

van Zandwijk N, Reid G, Lin RCY, Seibel M, Cowley M, Bowden N, Cooper W, Kao S, Horvath L, Hart D

$385,470

NSW Department of Health Program Grant (2014-2018)

Cancer Genome Medicine – Molecular Therapeutics Program

Thomas D, Simes J, Cowley M, Dinger M, Epstein R, Goldstein D, Goodwin A, Horvath L, Jacobs C, Kirk J, Lee C, Mann G, Marshall G, Meiser B, Meldrum C, Newson A, Orchard P, O'Toole S, Roscioli T, Sjoquist K, Spigelman A

$6,790,082

Movember and the Prostate Cancer Foundation of Australia Project Grant(2014-2016)

Adaptive response to targeting the androgen axis: exploiting the chink in the armour of resistance

Nelson C, Williams E, Russell P, Holst J, Buchanan G, Dinger M, Clements J, Hollier B, Vela I, Gunter J, Lehman M, Chopin L, Ling P

(Cowley M is a co-team leader under CI Dinger)

$4,250,000

Cancer Institute NSW Fellowship #13/ECF/1-46 (2014-2016)

Tumour evolution, and early detection of breast cancer empowered by massively parallel sequencing and in vivo imaging

Cowley M

$600,000

Cancer Institute NSW Infrastructure Grant #14/REG/1-07 (2014)

An automated micromanipulator platform to capture viable single cells for culture and molecular analyses

Becker T, Apte M, Rasko J, Spring K, Ranson M, Gedye C, Cowley M

$270,000

Media