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Dr Mark Pinese

Dr Mark Pinese

Conjoint Senior Lecturer

BAdvSc (Hons.), PhD

Medicine & Health
School of Clinical Medicine

Dr Pinese currently heads the Genomic Childhood Cancer Risk Team at the Children's Cancer Institute, where he researches the genomic basis of childhood cancer risk.

Previously, Dr Pinese completed his undergraduate studies at UNSW Australia on the biology of ageing, before moving to the Garvan Institute to pursue cancer research. 

At the Garvan Institute, Dr Pinese was a member of the world's largest sequencing effort in pancreatic cancer, and for his work received a PhD on the molecular determinants of survival of patients with pancreatic adenocarcinoma.  Dr Pinese then joined the Kinghorn Centre for Clinical Genomics, where he performed rapid-turnaround genomic analysis for cancer patients, and helped to develop Australia's first clinically-accredited whole genome sequencing test for rare disease. Dr Pinese then went on to lead the analysis of the Medical Genome Reference Bank, the largest genome sequencing cohort of well elderly individuals in the world.

Dr Pinese's work has been recognised by awards from professional societies (AGTA, ABACBS) and funding bodies (Cure Cancer Australia), and is currently supported by an NHMRC Emerging Leadership Fellowship.

 
E-mail
mpinese@ccia.org.au
Location
Lowy Cancer Research Centre
  • Journal articles | 2025
    Barlow-Stewart K; Courtney E; Cowley M; Ebzery C; Fuentes Bolanos N; Gifford AJ; Harden H; Josephi-Taylor S; Kotecha RS; Mateos MK; Manzur M; Mayoh C; Milnes D; Nielsen J; O’Connor M; Padhye B; Pitman C; Pitman E; Pinese M; Speechly C; Sullivan A; Trahair T; Tucker K; Tyrrell V; Warby M; Wood A; Ziegler DS; Johnston C, 2025, 'Returning raw genomic data to research participants in a pediatric cancer precision medicine trial', npj Genomic Medicine, 10, http://dx.doi.org/10.1038/s41525-025-00470-y
    Journal articles | 2025
    Chambers CR; Watakul S; Schofield P; Howell AE; Zhu J; Tran AMH; Kuepper N; Reed DA; Murphy KJ; Channon LM; Pereira BA; Tyma VM; Lee V; Trpceski M; Henry J; Melenec P; Abdulkhalek L; Nobis M; Metcalf XL; Ritchie S; Cadell A; Stoehr J; Magenau A; Chacon-Fajardo D; Chitty JL; O’Connell S; Zaratzian A; Tayao M; Silva AD; Lyons RJ; Goldstein LD; Dale A; Rookyard A; Connolly A; Crossett B; Tran YTH; Kaltzis P; Vennin C; Dinevska M; Croucher DR; Samra J; Mittal A; Weatheritt RJ; Philp A; Monte-Nieto GD; Zhang L; Enriquez RF; Cox TR; Shi YCC; Pinese M; Waddell N; Sim HW; Chtanova T; Wang Y; Joshua AM; Chantrill L; Jeffry Evans TR; Gill AJ; Morton JP; Pajic M; Christ D; Herzog H; Timpson P; Herrmann D, 2025, 'Targeting the NPY/NPY1R signaling axis in mutant p53–dependent pancreatic cancer impairs metastasis', Science Advances, 11, http://dx.doi.org/10.1126/sciadv.adq4416
    Journal articles | 2025
    Coppens S; Deconinck N; Sullivan P; Smolnikov A; Clayton JS; Griffin KR; Jones KJ; Vilain CN; Kadhim H; Bryen SJ; Faiz F; Waddell LB; Evesson FJ; Bakshi M; Pinner JR; Charlton A; Brammah S; Graf NS; Krivanek M; Tay CG; Foulds NC; Illingworth MA; Thomas NH; Ellard S; Mazanti I; Park SM; French CE; Brewster J; Belteki G; Hoodbhoy S; Allinson K; Krishnakumar D; Baynam G; Wood BM; Ward M; Vijayakumar K; Syed A; Murugan A; Majumdar A; Scurr IJ; Splitt MP; Moldovan C; de Silva DC; Senanayake K; Gardeitchik T; Arens Y; Cooper ST; Laing NG; Raymond FL; Jungbluth H; Kamsteeg EJ; Manzur A; Corley SM; Ravenscroft G; Wilkins MR; Cowley MJ; Pinese M; Ferreiro A; Richard I; Bönnemann CG; Donkervoort S; Luk HM; Sampaio H; Farrar MA; Mowat D; Fitzsimons RB; Vuillerot C; Phadke R; Davis MR; Muntoni F; Oates EC, 2025, 'Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum', Annals of Neurology, 97, pp. 611 - 628, http://dx.doi.org/10.1002/ana.27087
    Journal articles | 2025
    Goh S; Thiyagarajan L; Dudding-Byth T; Pinese M; Kirk EP, 2025, 'A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment', Genetics in Medicine, 27, http://dx.doi.org/10.1016/j.gim.2024.101227
    Journal articles | 2025
    Mateos MK; Ajuyah P; Fuentes-Bolanos N; El-Kamand S; Barahona P; Altekoester A-K; Mayoh C; Holliday H; Liu J; Cui L; Pfaff E; Mackay A; Resnick AC; Pinese M; Lau LMS; Khuong-Quang D-A; Dias K; Goudie C; Salkeld A; Rokita JL; Jones DTW; Juretic N; Hayden E; Pfister SM; Kramm CM; Blattner-Johnson M; Jabado N; Tsoli M; Vittorio O; Mueller S; Guo Y; Tucker K; Waszak SM; Perreault S; Jones C; Wong-Erasmus M; Cowley MJ; Ziegler DS, 2025, 'Germline analysis of an international cohort of pediatric diffuse midline glioma patients.', Neuro Oncol, http://dx.doi.org/10.1093/neuonc/noaf061
    Journal articles | 2025
    Sullivan PJ; Quinn JMW; Ajuyah P; Pinese M; Davis RL; Cowley MJ, 2025, 'Data-driven insights to inform splice-altering variant assessment', American Journal of Human Genetics, 112, pp. 764 - 778, http://dx.doi.org/10.1016/j.ajhg.2025.02.012
    Journal articles | 2025
    Tyrrell V; Mayoh C; Ekert P; Cowley M; Ziegler D; Wong M; Barahona P; Pinese M; Haber M; Salomon R; Courtney E; Lock R; Fuentes-Bolanos N; Marshall G; Warby M; Trahair T; Khuong Quang DA; Wakefield C; Tucker K; Barlow-Stewart K; Padhye B; Lau L, 2025, 'Zero Childhood Cancer: a national approach to improving outcomes of Australian children with cancer through multiomic precision medicine', Pathology, 57, pp. S19 - S19, http://dx.doi.org/10.1016/j.pathol.2024.12.099
    Journal articles | 2024
    Mateos MK; Ajuyah P; Fuentes-Bolanos N; El Kamand S; Barahona P; Altekoester A; Mayoh C; Holiday H; Liu J; Cui L; Pfaff E; Mackay A; Resnick A; Pinese M; Lau LMS; Khuong-Quang D-A; Dias K; Goudie C; Salkeld A; Rokita JL; Jones DTW; Juretic N; Hayden E; Pfister SM; Kramm CM; Blattner-Johnson M; Jabado N; Tsoli M; Vittorio O; Mueller S; Guo Y; Tucker K; Waszak SM; Perreault S; Jones C; Wong-Erasmus M; Cowley MJ; Ziegler DS, 2024, 'PEDIATRIC PATIENTS WITH DIFFUSE MIDLINE GLIOMA DEMONSTRATE AN UNEXPECTED PREVALENCE OF GERMLINE VARIANTS IN HOMOLOGOUS RECOMBINATION GENES', NEURO-ONCOLOGY, 26, http://dx.doi.org/10.1093/neuonc/noae064.129
    Journal articles | 2024
    Puttick C; L Davis R; R Kumar K; MW Quinn J; Zeng T; Fares C; Pinese M; M Thomas D; E Dinger M; M Sue C; J Cowley M, 2024, 'mity: A Highly Sensitive Mitochondrial Variant Analysis Pipeline for Whole Genome Sequencing Data', Journal of Bioinformatics and Systems Biology, 07, http://dx.doi.org/10.26502/jbsb.5107074
    Journal articles | 2024
    Sullivan PJ; Quinn JMW; Wu W; Pinese M; Cowley MJ, 2024, 'SpliceVarDB: A comprehensive database of experimentally validated human splicing variants', American Journal of Human Genetics, 111, pp. 2164 - 2175, http://dx.doi.org/10.1016/j.ajhg.2024.08.002
    Journal articles | 2024
    Zerella JR; Homan CC; Arts P; Lin X; Spinelli SJ; Venugopal P; Babic M; Brautigan PJ; Truong L; Arriola-Martinez L; Moore S; Hollins R; Parker WT; Nguyen H; Kassahn KS; Branford S; Feurstein S; Larcher L; Sicre de Fontbrune F; Demirdas S; de Munnik S; Antoine-Poirel H; Brichard B; Mansour S; Gordon K; Baliakas P; Blombery P; Fox LC; Donadieu J; Rio-Machin A; Steinberg-Shemer O; Morgan NV; Ngeow JYY; Skokowa J; Pinese M; Cowley MJ; Wlodarski MW; Koppayi A; Dobbins S; Mutsaers PGNJ; Nichols KE; Oak N; DeMille D; Mao R; Crawford A; McCarrier J; Basel D; Flores-Daboub J; Drazer MW; Phillips K; Poplawski NK; Birdsey GM; Pirri D; Ostergaard P; Simons A; Godley LA; Ross DM; Hiwase DK; Soulier J; Brown AL; Carmichael CL; Scott HS; Hahn CN, 2024, 'Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition', Blood, 144, pp. 1765 - 1780, http://dx.doi.org/10.1182/blood.2024024607
    Journal articles | 2023
    Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR; Awadalla P; Aymerich M; Bader GD; Baez-Ortega A; Bailey MH; Bailey PJ; Balasundaram M; Balu S; Bandopadhayay P; Banks RE; Barbi S; Barbour AP; Barenboim J; Barnholtz-Sloan J; Barr H; Barrera E; Bartlett J; Bartolome J; Bassi C; Bathe OF; Baumhoer D; Bavi P; Baylin SB; Bazant W; Beardsmore D; Beck TA; Behjati S; Behren A; Niu B; Bell C; Beltran S; Benz C; Berchuck A; Bergmann AK; Bergstrom EN; Berman BP; Berney DM; Bernhart SH; Beroukhim R; Berrios M; Bersani S; Bertl J; Betancourt M; Bhandari V; Bhosle SG; Biankin AV; Bieg M; Bigner D; Binder H; Birney E; Birrer M; Biswas NK; Bjerkehagen B; Bodenheimer T; Boice L; Bonizzato G; De Bono JS, 2023, 'Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6)', Nature, 614, pp. E39, http://dx.doi.org/10.1038/s41586-022-05598-w
    Journal articles | 2023
    Akdemir KC; Le VT; Chandran S; Li Y; Verhaak RG; Beroukhim R; Campbell PJ; Chin L; Dixon JR; Futreal PA; Akdemir KC; Alvarez EG; Baez-Ortega A; Boutros PC; Bowtell DDL; Brors B; Burns KH; Chan K; Chen K; Cortés-Ciriano I; Dueso-Barroso A; Dunford AJ; Edwards PA; Estivill X; Etemadmoghadam D; Feuerbach L; Fink JL; Frenkel-Morgenstern M; Garsed DW; Gerstein M; Gordenin DA; Haan D; Haber JE; Hess JM; Hutter B; Imielinski M; Jones DTW; Ju YS; Kazanov MD; Klimczak LJ; Koh Y; Korbel JO; Kumar K; Lee EA; Lee JJK; Lynch AG; Macintyre G; Markowetz F; Martincorena I; Martinez-Fundichely A; Meyerson M; Miyano S; Nakagawa H; Navarro FCP; Ossowski S; Park PJ; Pearson JV; Puiggròs M; Rippe K; Roberts ND; Roberts SA; Rodriguez-Martin B; Schumacher SE; Scully R; Shackleton M; Sidiropoulos N; Sieverling L; Stewart C; Torrents D; Tubio JMC; Villasante I; Waddell N; Wala JA; Weischenfeldt J; Yang L; Yao X; Yoon SS; Zamora J; Zhang CZ; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K, 2023, 'Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (Nature Genetics, (2020), 52, 3, (294-305), 10.1038/s41588-019-0564-y)', Nature Genetics, 55, pp. 1079, http://dx.doi.org/10.1038/s41588-023-01318-w
    Journal articles | 2023
    Alexandrov LB; Kim J; Haradhvala NJ; Huang MN; Tian Ng AW; Wu Y; Boot A; Covington KR; Gordenin DA; Bergstrom EN; Islam SMA; Lopez-Bigas N; Klimczak LJ; McPherson JR; Morganella S; Sabarinathan R; Wheeler DA; Mustonen V; Boutros P; Chan K; Fujimoto A; Getz G; Kazanov M; Lawrence M; Martincorena I; Nakagawa H; Polak P; Prokopec S; Roberts SA; Rozen SG; Saini N; Shibata T; Shiraishi Y; Stratton MR; Teh BT; Vázquez-García I; Yousif F; Yu W; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR, 2023, 'Author Correction: The repertoire of mutational signatures in human cancer (Nature, (2020), 578, 7793, (94-101), 10.1038/s41586-020-1943-3)', Nature, 614, pp. E41, http://dx.doi.org/10.1038/s41586-022-05600-5
    Journal articles | 2023
    Calabrese C; Davidson NR; Demircioğlu D; Fonseca NA; He Y; Kahles A; Lehmann KV; Liu F; Shiraishi Y; Soulette CM; Urban L; Greger L; Li S; Liu D; Perry MD; Xiang Q; Zhang F; Zhang J; Bailey P; Erkek S; Hoadley KA; Hou Y; Huska MR; Kilpinen H; Korbel JO; Marin MG; Markowski J; Nandi T; Pan-Hammarström Q; Pedamallu CS; Siebert R; Stark SG; Su H; Tan P; Waszak SM; Yung C; Zhu S; Awadalla P; Creighton CJ; Meyerson M; Ouellette BFF; Wu K; Yang H; Perry MD; Amin SB; Bailey P; Chateigner A; Cortés-Ciriano I; Craft B; Frenkel-Morgenstern M; Goldman M; Khurana E; Lamaze FC; Li C; Li X; Li X; Liu X; Nielsen MM; Ojesina AI; Park PJ; Pedersen JS, 2023, 'Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0)', Nature, 614, pp. E37, http://dx.doi.org/10.1038/s41586-022-05596-y
    Journal articles | 2023
    Cortés-Ciriano I; Lee JJK; Xi R; Jain D; Jung YL; Yang L; Gordenin D; Klimczak LJ; Zhang CZ; Pellman DS; Akdemir KC; Alvarez EG; Baez-Ortega A; Beroukhim R; Boutros PC; Bowtell DDL; Brors B; Burns KH; Campbell PJ; Chan K; Chen K; Dueso-Barroso A; Dunford AJ; Edwards PA; Estivill X; Etemadmoghadam D; Feuerbach L; Fink JL; Frenkel-Morgenstern M; Garsed DW; Gerstein M; Haan D; Haber JE; Hess JM; Hutter B; Imielinski M; Jones DTW; Ju YS; Kazanov MD; Koh Y; Korbel JO; Kumar K; Lee EA; Li Y; Lynch AG; Macintyre G; Markowetz F; Martincorena I; Martinez-Fundichely A; Miyano S; Nakagawa H; Navarro FCP; Ossowski S; Pearson JV; Puiggròs M; Rippe K; Roberts ND; Roberts SA; Rodriguez-Martin B; Schumacher SE; Scully R; Shackleton M; Sidiropoulos N; Sieverling L; Stewart C; Torrents D; Tubio JMC; Villasante I; Waddell N; Wala JA; Weischenfeldt J; Yao X; Yoon SS; Zamora J; Park PJ; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Amary F, 2023, 'Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7)', Nature Genetics, 55, pp. 1076, http://dx.doi.org/10.1038/s41588-023-01315-z
    Journal articles | 2023
    Daly R; Hetherington K; Hazell E; Wadling BR; Tyrrell V; Tucker KM; Marshall GM; Ziegler DS; Lau LMS; Trahair TN; O’Brien TA; Collins K; Gifford AJ; Haber M; Pinese M; Malkin D; Cowley MJ; Karpelowsky J; Drew D; Jacobs C; Wakefield CE, 2023, 'Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial', Journal of Personalized Medicine, 13, http://dx.doi.org/10.3390/jpm13071033
    Journal articles | 2023
    Fuentes Bolanos NA; Padhye B; Daley M; Hunter J; Hetherington K; Warby M; Courtney E; Kirk J; Josephi-Taylor S; Chen Y; Alvaro F; Barlow-Stewart K; Wong-Erasmus M; Barahona P; Ajuyah P; Altekoester AK; Tyrrell VJ; Lau LMS; Wakefield C; Sylvester D; Tucker K; Pinese M; Dalla Pozza L; O'Brien TA, 2023, 'Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: The PREDICT study', BMJ Open, 13, http://dx.doi.org/10.1136/bmjopen-2022-070082
    Journal articles | 2023
    Gerstung M; Jolly C; Leshchiner I; Dentro SC; Gonzalez S; Rosebrock D; Mitchell TJ; Rubanova Y; Anur P; Yu K; Tarabichi M; Deshwar A; Wintersinger J; Kleinheinz K; Vázquez-García I; Haase K; Jerman L; Sengupta S; Macintyre G; Malikic S; Donmez N; Livitz DG; Cmero M; Demeulemeester J; Schumacher S; Fan Y; Yao X; Lee J; Schlesner M; Boutros PC; Bowtell DDL; Zhu H; Getz G; Imielinski M; Beroukhim R; Sahinalp SC; Ji Y; Peifer M; Markowetz F; Mustonen V; Yuan K; Wang W; Morris QD; Adams DJ; Campbell PJ; Cao S; Christie EL; Cun Y; Dawson KJ; Drews RM; Fittall M; Garsed DW; Ha G; Lee-Six H; Martincorena I; Oesper L; Peto M; Raphael BJ; Salcedo A; Shi R; Shin SJ; Spiro O; Stein LD; Vembu S; Wheeler DA, 2023, 'Author Correction: The evolutionary history of 2,658 cancers (Nature, (2020), 578, 7793, (122-128), 10.1038/s41586-019-1907-7)', Nature, 614, pp. E42, http://dx.doi.org/10.1038/s41586-022-05601-4
    Journal articles | 2023
    Li Y; Roberts ND; Wala JA; Shapira O; Schumacher SE; Kumar K; Khurana E; Waszak S; Korbel JO; Haber JE; Imielinski M; Akdemir KC; Alvarez EG; Baez-Ortega A; Beroukhim R; Boutros PC; Bowtell DDL; Brors B; Burns KH; Campbell PJ; Chan K; Chen K; Cortés-Ciriano I; Dueso-Barroso A; Dunford AJ; Edwards PA; Estivill X; Etemadmoghadam D; Feuerbach L; Fink JL; Frenkel-Morgenstern M; Garsed DW; Gerstein M; Gordenin DA; Haan D; Hess JM; Hutter B; Jones DTW; Ju YS; Kazanov MD; Klimczak LJ; Koh Y; Lee EA; Lee JJK; Lynch AG; Macintyre G; Markowetz F; Martincorena I; Martinez-Fundichely A; Meyerson M; Miyano S; Nakagawa H; Navarro FCP; Ossowski S; Park PJ; Pearson JV; Puiggròs M; Rippe K; Roberts SA; Rodriguez-Martin B; Scully R; Shackleton M; Sidiropoulos N; Sieverling L; Stewart C; Torrents D; Tubio JMC; Villasante I; Waddell N; Weischenfeldt J; Yang L; Yao X; Yoon SS; Zamora J; Zhang CZ; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M, 2023, 'Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9)', Nature, 614, pp. E38, http://dx.doi.org/10.1038/s41586-022-05597-x
    Journal articles | 2023
    McGill BC; Wakefield CE; Tucker KM; Daly RA; Donoghoe MW; Vetsch J; Warby M; Fuentes-Bolanos NA; Barlow-Stewart K; Kirk J; Courtney E; O’Brien TA; Marshall GM; Pinese M; Cowley MJ; Tyrrell V; Deyell RJ; Ziegler DS; Hetherington K, 2023, 'Parents’ expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial', Cancer, 129, pp. 3620 - 3632, http://dx.doi.org/10.1002/cncr.34917
    Journal articles | 2023
    Rheinbay E; Nielsen MM; Abascal F; Wala JA; Shapira O; Tiao G; Hornshøj H; Hess JM; Juul RI; Lin Z; Feuerbach L; Sabarinathan R; Madsen T; Kim J; Mularoni L; Shuai S; Lanzós A; Herrmann C; Maruvka YE; Shen C; Amin SB; Bandopadhayay P; Bertl J; Boroevich KA; Busanovich J; Carlevaro-Fita J; Chakravarty D; Chan CWY; Craft D; Dhingra P; Diamanti K; Fonseca NA; Gonzalez-Perez A; Guo Q; Hamilton MP; Haradhvala NJ; Hong C; Isaev K; Johnson TA; Juul M; Kahles A; Kahraman A; Kim Y; Komorowski J; Kumar K; Kumar S; Lee D; Lehmann KV; Li Y; Liu EM; Lochovsky L; Park K; Pich O; Roberts ND; Saksena G; Schumacher SE; Sidiropoulos N; Sieverling L; Sinnott-Armstrong N; Stewart C; Tamborero D; Umer HM; Uusküla-Reimand L; Wadelius C; Wadi L; Yao X; Zhang CZ; Zhang J; Haber JE; Hobolth A; Imielinski M; Kellis M; Lawrence MS; von Mering C; Nakagawa H; Raphael BJ; Rubin MA; Sander C; Stein LD; Stuart JM; Tsunoda T; Wheeler DA; Johnson R; Reimand J; Gerstein M; Khurana E; Campbell PJ; López-Bigas N; Bader GD; Barenboim J; Beroukhim R; Brunak S, 2023, 'Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (Nature, (2020), 578, 7793, (102-111), 10.1038/s41586-020-1965-x)', Nature, 614, pp. E40, http://dx.doi.org/10.1038/s41586-022-05599-9
    Journal articles | 2023
    Rodriguez-Martin B; Alvarez EG; Baez-Ortega A; Zamora J; Supek F; Demeulemeester J; Santamarina M; Temes J; Garcia-Souto D; Detering H; Li Y; Rodriguez-Castro J; Dueso-Barroso A; Bruzos AL; Dentro SC; Blanco MG; Contino G; Ardeljan D; Tojo M; Roberts ND; Zumalave S; Edwards PA; Weischenfeldt J; Puiggròs M; Chong Z; Chen K; Lee EA; Wala JA; Raine KM; Butler A; Waszak SM; Navarro FCP; Schumacher SE; Monlong J; Maura F; Bolli N; Gerstein M; Park PJ; Wedge DC; Beroukhim R; Torrents D; Korbel JO; Martincorena I; Fitzgerald RC; Van Loo P; Kazazian HH; Burns KH; Akdemir KC; Boutros PC; Bowtell DDL; Brors B; Campbell PJ; Chan K; Chen K; Cortés-Ciriano I; Dunford AJ; Estivill X; Etemadmoghadam D; Feuerbach L; Fink JL; Frenkel-Morgenstern M; Garsed DW; Gordenin DA; Haan D; Haber JE; Hess JM; Hutter B; Imielinski M; Jones DTW; Ju YS; Kazanov MD; Klimczak LJ; Koh Y; Kumar K; Lee JJK; Lynch AG; Macintyre G; Markowetz F; Martinez-Fundichely A; Meyerson M; Miyano S; Nakagawa H; Ossowski S; Pearson JV; Rippe K; Roberts SA, 2023, 'Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (Nature Genetics, (2020), 52, 3, (306-319), 10.1038/s41588-019-0562-0)', Nature Genetics, 55, pp. 1080, http://dx.doi.org/10.1038/s41588-023-01319-9
    Journal articles | 2023
    Sullivan PJ; Gayevskiy V; Davis RL; Wong M; Mayoh C; Mallawaarachchi A; Hort Y; McCabe MJ; Beecroft S; Jackson MR; Arts P; Dubowsky A; Laing N; Dinger ME; Scott HS; Oates E; Pinese M; Cowley MJ, 2023, 'Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications', Genome Biology, 24, http://dx.doi.org/10.1186/s13059-023-02936-7
    Journal articles | 2023
    Yakneen S; Waszak SM; Aminou B; Bartolome J; Boroevich KA; Boyce R; Brooks AN; Buchanan A; Buchhalter I; Butler AP; Byrne NJ; Cafferkey A; Campbell PJ; Chen Z; Cho S; Choi W; Clapham P; Davis-Dusenbery BN; De La Vega FM; Demeulemeester J; Dow MT; Dursi LJ; Eils J; Eils R; Ellrott K; Farcas C; Favero F; Fayzullaev N; Ferretti V; Flicek P; Fonseca NA; Gelpi JL; Getz G; Gibson B; Grossman RL; Harismendy O; Heath AP; Heinold MC; Hess JM; Hofmann O; Hong JH; Hudson TJ; Hutter B; Hutter CM; Hübschmann D; Imoto S; Ivkovic S; Jeon SH; Jiao W; Jung J; Kabbe R; Kahles A; Kerssemakers JNA; Kim HL; Kim H; Kim J; Kim Y; Kleinheinz K; Koscher M; Koures A; Kovacevic M; Lawerenz C; Leshchiner I; Liu J; Livitz D; Mihaiescu GL; Mijalkovic S; Mijalkovic Lazic A; Miyano S; Miyoshi N; Nahal-Bose HK; Nakagawa H; Nastic M; Newhouse SJ; Nicholson J; O’Connor BD; Ocana D; Ohi K; Ohno-Machado L; Omberg L; Ouellette BFF; Paramasivam N; Perry MD; Pihl TD; Prinz M; Puiggròs M; Radovic P; Raine KM; Rheinbay E; Rosenberg M; Royo R; Rätsch G; Saksena G; Schlesner M; Shorser SI; Short C; Sofia HJ; Spring J; Stein LD; Struck AJ, 2023, 'Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (Nature Biotechnology, (2020), 38, 3, (288-292), 10.1038/s41587-019-0360-3)', Nature Biotechnology, 41, pp. 577, http://dx.doi.org/10.1038/s41587-022-01554-1
    Journal articles | 2023
    Yuan Y; Ju YS; Kim Y; Li J; Wang Y; Yoon CJ; Yang Y; Martincorena I; Creighton CJ; Weinstein JN; Xu Y; Han L; Kim HL; Nakagawa H; Park K; Campbell PJ; Liang H; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR; Awadalla P; Aymerich M; Bader GD; Baez-Ortega A; Bailey MH; Bailey PJ; Balasundaram M; Balu S; Bandopadhayay P; Banks RE; Barbi S; Barbour AP; Barenboim J; Barnholtz-Sloan J; Barr H; Barrera E; Bartlett J; Bartolome J; Bassi C; Bathe OF; Baumhoer D; Bavi P; Baylin SB; Bazant W; Beardsmore D; Beck TA; Behjati S; Behren A; Niu B; Bell C; Beltran S; Benz C; Berchuck A; Bergmann AK; Bergstrom EN; Berman BP; Berney DM; Bernhart SH; Beroukhim R; Berrios M, 2023, 'Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)', Nature Genetics, 55, pp. 1078, http://dx.doi.org/10.1038/s41588-023-01317-x
    Journal articles | 2023
    Yuan Y; Ju YS; Kim Y; Li J; Wang Y; Yoon CJ; Yang Y; Martincorena I; Creighton CJ; Weinstein JN; Xu Y; Han L; Kim HL; Nakagawa H; Park K; Campbell PJ; Liang H; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR; Awadalla P; Aymerich M; Bader GD; Baez-Ortega A; Bailey MH; Bailey PJ; Balasundaram M; Balu S; Bandopadhayay P; Banks RE; Barbi S; Barbour AP; Barenboim J; Barnholtz-Sloan J; Barr H; Barrera E; Bartlett J; Bartolome J; Bassi C; Bathe OF; Baumhoer D; Bavi P; Baylin SB; Bazant W; Beardsmore D; Beck TA; Behjati S; Behren A; Niu B; Bell C; Beltran S; Benz C; Berchuck A; Bergmann AK; Bergstrom EN; Berman BP; Berney DM; Bernhart SH; Beroukhim R; Berrios M, 2023, 'Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)', Nature Genetics, 55, pp. 892, http://dx.doi.org/10.1038/s41588-020-0629-y
    Journal articles | 2023
    Yuan Y; Ju YS; Kim Y; Li J; Wang Y; Yoon CJ; Yang Y; Martincorena I; Creighton CJ; Weinstein JN; Xu Y; Han L; Kim HL; Nakagawa H; Park K; Campbell PJ; Liang H; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR; Awadalla P; Aymerich M; Bader GD; Baez-Ortega A; Bailey MH; Bailey PJ; Balasundaram M; Balu S; Bandopadhayay P; Banks RE; Barbi S; Barbour AP; Barenboim J; Barnholtz-Sloan J; Barr H; Barrera E; Bartlett J; Bartolome J; Bassi C; Bathe OF; Baumhoer D; Bavi P; Baylin SB; Bazant W; Beardsmore D; Beck TA; Behjati S; Behren A; Niu B; Bell C; Beltran S; Benz C; Berchuck A; Bergmann AK; Bergstrom EN; Berman BP; Berney DM; Bernhart SH; Beroukhim R; Berrios M, 2023, 'Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)', Nature Genetics, 55, pp. 893, http://dx.doi.org/10.1038/s41588-020-0587-4
    Journal articles | 2023
    Zapatka M; Borozan I; Brewer DS; Iskar M; Grundhoff A; Alawi M; Desai N; Sültmann H; Moch H; Cooper CS; Eils R; Ferretti V; Iskar M; Kleinheinz K; Lichter P; Nakagawa H; Ojesina AI; Pedamallu CS; Schlesner M; Su X; Cooper CS; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR; Awadalla P; Aymerich M; Bader GD; Baez-Ortega A; Bailey MH; Bailey PJ; Balasundaram M; Balu S; Bandopadhayay P; Banks RE; Barbi S; Barbour AP; Barenboim J; Barnholtz-Sloan J; Barr H; Barrera E; Bartlett J; Bartolome J; Bassi C; Bathe OF; Baumhoer D; Bavi P; Baylin SB; Bazant W; Beardsmore D; Beck TA; Behjati S; Behren A; Niu B, 2023, 'Author Correction: The landscape of viral associations in human cancers (Nature Genetics, (2020), 52, 3, (320-330), 10.1038/s41588-019-0558-9)', Nature Genetics, 55, pp. 1077, http://dx.doi.org/10.1038/s41588-023-01316-y
    Journal articles | 2022
    Bhandari V; Li CH; Bristow RG; Boutros PC; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y; Atwal G; Aukema S; Auman JT; Aure MRR; Awadalla P; Aymerich M; Bader GD; Baez-Ortega A; Bailey MH; Bailey PJ; Balasundaram M; Balu S; Bandopadhayay P; Banks RE; Barbi S; Barbour AP; Barenboim J; Barnholtz-Sloan J; Barr H; Barrera E; Bartlett J; Bartolome J; Bassi C; Bathe OF; Baumhoer D; Bavi P; Baylin SB; Bazant W; Beardsmore D; Beck TA; Behjati S; Behren A; Niu B; Bell C; Beltran S; Benz C; Berchuck A; Bergmann AK; Bergstrom EN; Berman BP; Berney DM; Bernhart SH; Beroukhim R; Berrios M; Bersani S; Bertl J; Betancourt M; Bhosle SG; Biankin AV; Bieg M; Bigner D; Binder H; Birney E; Birrer M; Biswas NK; Bjerkehagen B, 2022, 'Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32339-4
    Journal articles | 2022
    Cmero M; Yuan K; Ong CS; Schröder J; Adams DJ; Anur P; Beroukhim R; Boutros PC; Bowtell DDL; Campbell PJ; Cao S; Christie EL; Cun Y; Dawson KJ; Demeulemeester J; Dentro SC; Deshwar AG; Donmez N; Drews RM; Eils R; Fan Y; Fittall MW; Garsed DW; Gerstung M; Getz G; Gonzalez S; Ha G; Haase K; Imielinski M; Jerman L; Ji Y; Jolly C; Kleinheinz K; Lee J; Lee-Six H; Leshchiner I; Livitz D; Malikic S; Martincorena I; Mitchell TJ; Morris QD; Mustonen V; Oesper L; Peifer M; Peto M; Raphael BJ; Rosebrock D; Rubanova Y; Sahinalp SC; Salcedo A; Schlesner M; Schumacher SE; Sengupta S; Shi R; Shin SJ; Spellman PT; Spiro O; Stein LD; Tarabichi M; Van Loo P; Vembu S; Vázquez-García I; Wang W; Wedge DC; Wheeler DA; Wintersinger JA; Yang TP; Yao X; Yu K; Zhu H; Corcoran NM; Papenfuss T; Hovens CM; Markowetz F; Macintyre G; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O, 2022, 'Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32338-5
    Journal articles | 2022
    Jiao W; Atwal G; Polak P; Karlic R; Cuppen E; Al-Shahrour F; Bailey PJ; Biankin AV; Boutros PC; Campbell PJ; Chang DK; Cooke SL; Deshpande V; Faltas BM; Faquin WC; Garraway L; Getz G; Grimmond SM; Haider S; Hoadley KA; Kaiser VB; Kato M; Kübler K; Lazar AJ; Li CH; Louis DN; Margolin A; Martin S; Nahal-Bose HK; Nielsen GP; Nik-Zainal S; Omberg L; P’ng C; Perry MD; Rheinbay E; Rubin MA; Semple CA; Sgroi DC; Shibata T; Siebert R; Smith J; Stein LD; Stobbe MD; Sun RX; Thai K; Wright DW; Wu CL; Yuan K; Zhang J; Danyi A; de Ridder J; van Herpen C; Lolkema MP; Steeghs N; Morris QD; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB; Aminou B; Ammerpohl O; Anderson MJ; Ang Y; Antonello D; Anur P; Aparicio S; Appelbaum EL; Arai Y; Aretz A; Arihiro K; Ariizumi SI; Armenia J; Arnould L; Asa S; Assenov Y, 2022, 'Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns (Nature Communications, (2020), 11, 1, (728), 10.1038/s41467-019-13825-8)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32329-6
    Journal articles | 2022
    Lau LMS; Mayoh C; Xie J; Barahona P; MacKenzie KL; Wong M; Kamili A; Tsoli M; Failes TW; Kumar A; Mould EVA; Gifford A; Chow SO; Pinese M; Fletcher JI; Arndt GM; Khuong-Quang DA; Wadham C; Batey D; Eden G; Trebilcock P; Joshi S; Alfred S; Gopalakrishnan A; Khan A; Grebert Wade D; Strong PA; Manouvrier E; Morgan LT; Span M; Lim JY; Cadiz R; Ung C; Thomas DM; Tucker KM; Warby M; McCowage GB; Dalla-Pozza L; Byrne JA; Saletta F; Fellowes A; Fox SB; Norris MD; Tyrrell V; Trahair TN; Lock RB; Cowley MJ; Ekert PG; Haber M; Ziegler DS; Marshall GM; Trahair T, 2022, 'In vitro and in vivo drug screens of tumor cells identify novel therapies for high-risk child cancer', EMBO Molecular Medicine, 14, pp. emmm202114608, http://dx.doi.org/10.15252/emmm.202114608
    Journal articles | 2022
    Paczkowska M; Barenboim J; Sintupisut N; Fox NS; Zhu H; Abd-Rabbo D; Mee MW; Boutros PC; Abascal F; Amin SB; Bader GD; Beroukhim R; Bertl J; Boroevich KA; Brunak S; Campbell PJ; Carlevaro-Fita J; Chakravarty D; Chan CWY; Chen K; Choi JK; Deu-Pons J; Dhingra P; Diamanti K; Feuerbach L; Fink JL; Fonseca NA; Frigola J; Gambacorti-Passerini C; Garsed DW; Gerstein M; Getz G; Gonzalez-Perez A; Guo Q; Gut IG; Haan D; Hamilton MP; Haradhvala NJ; Harmanci AO; Helmy M; Herrmann C; Hess JM; Hobolth A; Hodzic E; Hong C; Hornshøj H; Isaev K; Izarzugaza JMG; Johnson R; Johnson TA; Juul M; Juul RI; Kahles A; Kahraman A; Kellis M; Khurana E; Kim J; Kim JK; Kim Y; Komorowski J; Korbel JO; Kumar S; Lanzós A; Lawrence MS; Lee D; Lehmann KV; Li S; Li X; Lin Z; Liu EM; Lochovsky L; Lou S; Madsen T; Marchal K; Martincorena I; Martinez-Fundichely A; Maruvka YE; McGillivray PD; Meyerson W; Muiños F; Mularoni L; Nakagawa H; Nielsen MM; Park K; Park K; Pedersen JS; Pich O; Pons T; Pulido-Tamayo S; Raphael BJ; Reyes-Salazar I; Reyna MA; Rheinbay E; Rubin MA; Rubio-Perez C; Sabarinathan R; Sahinalp SC; Saksena G; Salichos L; Sander C, 2022, 'Author Correction: Integrative pathway enrichment analysis of multivariate omics data (Nature Communications, (2020), 11, 1, (735), 10.1038/s41467-019-13983-9)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32342-9
    Journal articles | 2022
    Reyna MA; Haan D; Paczkowska M; Verbeke LPC; Vazquez M; Kahraman A; Pulido-Tamayo S; Barenboim J; Wadi L; Dhingra P; Shrestha R; Getz G; Lawrence MS; Pedersen JS; Rubin MA; Wheeler DA; Brunak S; Izarzugaza JMG; Khurana E; Marchal K; von Mering C; Sahinalp SC; Valencia A; Abascal F; Amin SB; Bader GD; Bandopadhayay P; Beroukhim R; Bertl J; Boroevich KA; Busanovich J; Campbell PJ; Carlevaro-Fita J; Chakravarty D; Chan CWY; Chen K; Choi JK; Deu-Pons J; Diamanti K; Feuerbach L; Fink JL; Fonseca NA; Frigola J; Gambacorti-Passerini C; Garsed DW; Gerstein M; Guo Q; Gut IG; Hamilton MP; Haradhvala NJ; Harmanci AO; Helmy M; Herrmann C; Hess JM; Hobolth A; Hodzic E; Hong C; Hornshøj H; Isaev K; Johnson R; Johnson TA; Juul M; Juul RI; Kahles A; Kellis M; Kim J; Kim JK; Kim Y; Komorowski J; Korbel JO; Kumar S; Lanzós A; Larsson E; Lee D; Lehmann KV; Li S; Li X; Lin Z; Liu EM; Lochovsky L; Lou S; Madsen T; Martincorena I; Martinez-Fundichely A; Maruvka YE; McGillivray PD; Meyerson W; Muiños F; Mularoni L; Nakagawa H; Nielsen MM; Park K; Park K; Pons T; Reyes-Salazar I; Rheinbay E; Rubio-Perez C; Saksena G; Salichos L; Sander C, 2022, 'Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes (Nature Communications, (2020), 11, 1, (729), 10.1038/s41467-020-14367-0)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32334-9
    Journal articles | 2022
    Rubanova Y; Shi R; Harrigan CF; Li R; Wintersinger J; Sahin N; Deshwar AG; Dentro SC; Leshchiner I; Gerstung M; Jolly C; Haase K; Tarabichi M; Yu K; Gonzalez S; Macintyre G; Adams DJ; Anur P; Beroukhim R; Boutros PC; Bowtell DDL; Campbell PJ; Cao S; Christie EL; Cmero M; Cun Y; Dawson KJ; Demeulemeester J; Donmez N; Drews RM; Eils R; Fan Y; Fittall M; Garsed DW; Getz G; Ha G; Imielinski M; Jerman L; Ji Y; Kleinheinz K; Lee J; Lee-Six H; Livitz DG; Malikic S; Markowetz F; Martincorena I; Mitchell TJ; Mustonen V; Oesper L; Peifer M; Peto M; Raphael BJ; Rosebrock D; Sahinalp SC; Salcedo A; Schlesner M; Schumacher S; Sengupta S; Shin SJ; Spiro O; Stein LD; Vázquez-García I; Vembu S; Wheeler DA; Yang TP; Yao X; Yuan K; Zhu H; Wang W; Morris QD; Spellman PT; Wedge DC; Van Loo P; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H; Al-Sedairy ST; Al-Shahrour F; Alawi M; Albert M; Aldape K; Alexandrov LB; Ally A; Alsop K; Alvarez EG; Amary F; Amin SB, 2022, 'Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig (Nature Communications, (2020), 11, 1, (731), 10.1038/s41467-020-14352-7)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32336-7
    Journal articles | 2022
    Shuai S; Abascal F; Amin SB; Bader GD; Bandopadhayay P; Barenboim J; Beroukhim R; Bertl J; Boroevich KA; Brunak S; Campbell PJ; Carlevaro-Fita J; Chakravarty D; Chan CWY; Chen K; Choi JK; Deu-Pons J; Dhingra P; Diamanti K; Feuerbach L; Fink JL; Fonseca NA; Frigola J; Gambacorti-Passerini C; Garsed DW; Gerstein M; Getz G; Guo Q; Gut IG; Haan D; Hamilton MP; Haradhvala NJ; Harmanci AO; Helmy M; Herrmann C; Hess JM; Hobolth A; Hodzic E; Hong C; Hornshøj H; Isaev K; Izarzugaza JMG; Johnson R; Johnson TA; Juul M; Juul RI; Kahles A; Kahraman A; Kellis M; Khurana E; Kim J; Kim JK; Kim Y; Komorowski J; Korbel JO; Kumar S; Lanzós A; Larsson E; Lawrence MS; Lee D; Lehmann KV; Li S; Li X; Lin Z; Liu EM; Lochovsky L; Lou S; Madsen T; Marchal K; Martincorena I; Martinez-Fundichely A; Maruvka YE; McGillivray PD; Meyerson W; Muiños F; Mularoni L; Nakagawa H; Nielsen MM; Paczkowska M; Park K; Park K; Pedersen JS; Pons T; Pulido-Tamayo S; Raphael BJ; Reimand J; Reyes-Salazar I; Reyna MA; Rheinbay E; Rubin MA; Rubio-Perez C; Sahinalp SC; Saksena G; Salichos L; Sander C; Schumacher SE; Shackleton M; Shapira O; Shen C; Shrestha R, 2022, 'Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower (Nature Communications, (2020), 11, 1, (734), 10.1038/s41467-019-13929-1)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32343-8
    Journal articles | 2022
    Sieverling L; Hong C; Koser SD; Ginsbach P; Kleinheinz K; Hutter B; Braun DM; Cortés-Ciriano I; Xi R; Kabbe R; Park PJ; Eils R; Schlesner M; Akdemir KC; Alvarez EG; Baez-Ortega A; Beroukhim R; Boutros PC; Bowtell DDL; Brors B; Burns KH; Campbell PJ; Chan K; Chen K; Dueso-Barroso A; Dunford AJ; Edwards PA; Estivill X; Etemadmoghadam D; Feuerbach L; Fink JL; Frenkel-Morgenstern M; Garsed DW; Gerstein M; Gordenin DA; Haan D; Haber JE; Hess JM; Imielinski M; Jones DTW; Ju YS; Kazanov MD; Klimczak LJ; Koh Y; Korbel JO; Kumar K; Lee EA; Lee JJK; Li Y; Lynch AG; Macintyre G; Markowetz F; Martincorena I; Martinez-Fundichely A; Meyerson M; Miyano S; Nakagawa H; Navarro FCP; Ossowski S; Pearson JV; Puiggròs M; Rippe K; Roberts ND; Roberts SA; Rodriguez-Martin B; Schumacher SE; Scully R; Shackleton M; Sidiropoulos N; Stewart C; Torrents D; Tubio JMC; Villasante I; Waddell N; Wala JA; Weischenfeldt J; Yang L; Yao X; Yoon SS; Zamora J; Zhang CZ; Aaltonen LA; Abascal F; Abeshouse A; Aburatani H; Adams DJ; Agrawal N; Ahn KS; Ahn SM; Aikata H; Akbani R; Akdemir KC; Al-Ahmadie H, 2022, 'Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Nature Communications, (2020), 11, 1, (733), 10.1038/s41467-019-13824-9)', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-32328-7
    Journal articles | 2022
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    Johns AL; McKay SH; Humphris JL; Pinese M; Chantrill LA; Mead RS; Tucker K; Andrews L; Goodwin A; Leonard C; High HA; Nones K; Waddell N; Patch AM; Merrett ND; Pavlakis N; Kassahn KS; Samra JS; Miller DK; Chang DK; Pajic M; Pearson JV; Grimmond SM; Zeps N; Gill AJ; Biankin AV; Chin VT; Chou A; Steinmann A; Arshi M; Drury A; Froio D; Morgan A; Timpson P; Hermann D; Vennin C; Warren S; Wu J; Pinho AV; Newell F; Mukhopadhyay P; Addala V; Kazakoff S; Holmes O; Wood S; Xu C; Hofmann O; Wilson PJ; Christ A; Bruxner T; Samra S; Arena J; Mittal A; Asghari R; Pavey D; Das A; Cosman PH; Ismail K; O'Connnor C; Williams D; Spigellman A; Lam W; McLeod D; Nagrial AM; Kirk J; James V; Grimison P; Cooper CL; Sandroussi C; Forest C; Epari KP; Ballal M; Fletcher DR; Mukhedkar S; Beilin M; Feeney K; Nguyen NQ; Ruszkiewicz AR; Worthley C; Brooke-Smith ME; Papangelis V; Clouston AD; Martin P; Barbour AP; O'Rourke TJ; Fawcett JW; Slater K; Hatzifotis M; Hodgkinson P; Hruban RH; Wolfgang CL; Hodgin M; Lawlor RT; Beghelli S; Corbo V; Scardoni M; Bassi C; Bailey P; Martin S; Musgrove EA; Herrmann D, 2017, 'Lost in translation: Returning germline genetic results in genome-scale cancer research', Genome Medicine, 9, pp. 41, http://dx.doi.org/10.1186/s13073-017-0430-4
    Journal articles | 2017
    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, 543, pp. 65 - 71, http://dx.doi.org/10.1038/nature21063
    Journal articles | 2017
    Scarpa A; Hang DKC; Nones K; Corbo V; Patch A-M; 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; Tos APD; Capelli P; Davi MV; Landoni L; Malpaga A; Miotto M; Whitehall VLJ; Leggett BA; Harris JL; Harris J; Jones MD; Humphris J; Hantrill LAC; 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 M-C; 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; Waddell N; Biankin AV; Grimmond SM, 2017, 'Whole-genome landscape of pancreatic neuroendocrine tumours (vol 543, pg 65, 2017)', NATURE, 550, pp. 548 - 548, http://dx.doi.org/10.1038/nature24026
    Journal articles | 2017
    Vennin C; Chin VT; Warren SC; Lucas MC; Herrmann D; Magenau A; Melenec P; Walters SN; Del Monte-Nieto G; Conway JRW; Nobis M; Allam AH; McCloy RA; Currey N; Pinese M; Boulghourjian A; Zaratzian A; Adam AAS; Heu C; Nagrial AM; Chou A; Steinmann A; Drury A; Froio D; Giry-Laterriere M; Harris NLE; Phan T; Jain R; Weninger W; McGhee EJ; Whan R; Johns AL; Samra JS; Chantrill L; Gill AJ; Kohonen-Corish M; Harvey RP; Biankin AV; Evans TRJ; Anderson KI; Grey ST; Ormandy CJ; Gallego-Ortega D; Wang Y; Samuel MS; Sansom OJ; Burgess A; Cox TR; Morton JP; Pajic M; Timpson P, 2017, 'Transient tissue priming via ROCK inhibition uncouples pancreatic cancer progression, sensitivity to chemotherapy, and metastasis', Science Translational Medicine, 9, http://dx.doi.org/10.1126/scitranslmed.aai8504
    Journal articles | 2016
    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, 531, pp. 47 - 52, http://dx.doi.org/10.1038/nature16965
    Journal articles | 2016
    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, 14, pp. 907 - 919, http://dx.doi.org/10.1016/j.celrep.2015.12.005
    Journal articles | 2016
    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, 17, pp. 265 - 270, http://dx.doi.org/10.1007/s10048-016-0495-z
    Journal articles | 2015
    Miller BW; Morton JP; Pinese M; Saturno G; Jamieson NB; Mcghee E; Timpson P; Leach J; Mcgarry L; Shanks E; Bailey P; Chang D; Oien K; Karim S; Au A; Steele C; Carter CR; Mckay C; Anderson K; Evans TRJ; Marais R; Springer C; Biankin A; Erler JT; Sansom OJ, 2015, 'Targeting the LOX/hypoxia axis reverses many of the features that make pancreatic cancer deadly: Inhibition of LOX abrogates metastasis and enhances drug efficacy', EMBO Molecular Medicine, 7, pp. 1063 - 1076, http://dx.doi.org/10.15252/emmm.201404827
    Journal articles | 2015
    Susanto JM; Colvin EK; Pinese M; Chang DK; Pajic M; Mawson A; Caldon CE; Musgrove EA; Henshall SM; Sutherland RL; Biankin AV; Scarlett CJ, 2015, 'The epigenetic agents suberoylanilide hydroxamic acid and 5-AZA-2′ deoxycytidine decrease cell proliferation, induce cell death and delay the growth of MiaPaCa2 pancreatic cancer cells in vivo', International Journal of Oncology, 46, pp. 2223 - 2230, http://dx.doi.org/10.3892/ijo.2015.2894
    Journal articles | 2015
    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, 14, http://dx.doi.org/10.1186/s12943-015-0412-3
    Journal articles | 2015
    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, 518, pp. 495 - 501, http://dx.doi.org/10.1038/nature14169
    Journal articles | 2014
    Ali NA; Wu J; Hochgräfe F; Chan H; Nair R; Ye S; Zhang L; Lyons RJ; Pinese M; Lee HC; Armstrong N; Ormandy CJ; Clark SJ; Swarbrick A; Daly RJ, 2014, 'Profiling the tyrosine phosphoproteome of different mouse mammary tumour models reveals distinct, model-specific signalling networks and conserved oncogenic pathways', Breast Cancer Research, 16, http://dx.doi.org/10.1186/s13058-014-0437-3
    Journal articles | 2014
    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, 120, pp. 3669 - 3675, http://dx.doi.org/10.1002/cncr.28863
    Journal articles | 2014
    Nagrial AM; Chang DK; Nguyen NQ; Johns AL; Chantrill LA; Humphris JL; Chin VT; Samra JS; Gill AJ; Pajic M; Pinese M; Colvin EK; Scarlett CJ; Chou A; Kench JG; Sutherland RL; Horvath LG; Biankin AV, 2014, 'Adjuvant chemotherapy in elderly patients with pancreatic cancer', British Journal of Cancer, 110, pp. 313 - 319, http://dx.doi.org/10.1038/bjc.2013.722
    Journal articles | 2014
    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, 135, pp. 1110 - 1118, http://dx.doi.org/10.1002/ijc.28765
    Journal articles | 2013
    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, 31, pp. 1348 - 1356, http://dx.doi.org/10.1200/JCO.2012.46.8868
    Journal articles | 2013
    Chantrill L; Johns A; Nagrial A; Chin V; Chou A; Pinese M; Mead S; Gebski V; Sjoguist K; Lee C; Yip S; Miller D; Sebastian L; Asghari R; Harvey S; Paviakis N; Mukhedkar S; Grimison P; Miller D; Pearson J; Waddell N; Grimmond S; Simes J; Biankin A, 2013, 'The IMPaCT trial: Individualised Molecular Pancreatic Cancer Therapy. A pilot, randomized, open label Phase II trial assessing first line treatment with gemcitabine or personalized treatment based on tumour molecular signature in patients with metastatic pancreatic cancer.', MOLECULAR CANCER THERAPEUTICS, 12, http://dx.doi.org/10.1158/1535-7163.TARG-13-A75
    Journal articles | 2013
    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, 31, pp. e15029 - e15029, http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e15029
    Journal articles | 2013
    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, 5, pp. 78, http://dx.doi.org/10.1186/gm482
    Journal articles | 2013
    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, 8, http://dx.doi.org/10.1371/journal.pone.0074380
    Journal articles | 2012
    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; Rooman I; Pavey D; Cosman P; Nagrial A; Merrett N; asghari R; Cowley M; Daly R; Musgrove E; Pajic M; Wu J; Chang D; Chantrill L; Sutherland R; Gill A; Mawson A; Chou A; Kaplan W; Toon CCW; Johns A, 2012, 'The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma', Nature, 486, pp. 266 - 270, http://dx.doi.org/10.1038/nature11114
    Journal articles | 2011
    Chang DK; Colvin EK; Scarlett CJ; Pajic M; Pinese M; Gill AJ; Musgrove EA; Sutherland R; Kench J; Biankin AV, 2011, 'A molecular prognostic nomogram for resectable pancreatic cancer', JOURNAL OF CLINICAL ONCOLOGY, 29, http://dx.doi.org/10.1200/jco.2011.29.4_suppl.154
    Journal articles | 2011
    Colvin EK; Susanto J; Kench JG; Ong V; Mawson AJ; Pinese M; Chang DK; Rooman I; O'Toole S; Segara D; Musgrove EA; Sutherland RL; Apte MV; Scarlett C; Biankin AV, 2011, 'Retinoid signaling in pancreatic cancer, injury and regeneration', PLoS One, 6, pp. e29075, http://dx.doi.org/10.1371/journal.pone.0029075
    Journal articles | 2010
    Zardawi SJ; Zardawi I; Mcneil CM; Millar E; Mcleod D; Morey AL; Crea P; Murphy NC; Pinese M; Lopez-Knowles E; Oakes SR; Ormandy CJ; Qiu MR; Hamilton A; Spillane AJ; Lee CS; Sutherland RL; Musgrove EA; O'Toole S, 2010, 'High Notch1 protein expression is an early event in breast cancer development and is associated with the HER-2 molecular subtype', Histopathology, 56, pp. 286 - 296, http://dx.doi.org/10.1111/j.1365-2559.2009.03475.x
    Journal articles | 2009
    Chang DK; Colvin EK; Scarlett CJ; Pinese M; Goldstein D; Merrett ND; Musgrove EA; Henshall SM; Sutherland RL; Kench JG; Biankin AV, 2009, 'Biomarkers of Gemcitabine Response in Pancreatic Cancer', PANCREAS, 38, pp. 987 - 988, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271225300058&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2009
    Chong J; Prall O; Chandrakanthan V; Xaymardan M; Ahmed I; Scarlett C; Colvin E; Pinese M; Biankin A; Harvey R, 2009, 'Sca1+/CD31−/PDGFRa+ Cardiac Stem Cells are from an Epicardial/Mesodermal but not Neural-crest, Cardiomyocyte or Bone-marrow Origin', Heart, Lung and Circulation, 18, pp. S3 - S3, http://dx.doi.org/10.1016/j.hlc.2009.05.005
    Journal articles | 2009
    Colvin EK; Scarlett CJ; Pinese M; Biankin AV, 2009, 'Assessment of Retinoic Acid Signaling in the Normal Adult Pancreas, Pancreatic Injury and Regeneration and Pancreatic Cancer', PANCREAS, 38, pp. 990 - 990, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271225300069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2009
    Johns AL; Colvin EK; Pinese M; Gill AJ; Hruban RH; Eshleman JR; Maitra A; Grimmond SM; Biankin AV, 2009, 'Development of a Biological Resource for Genomic Characterisation of Pancreatic Cancer', PANCREAS, 38, pp. 1011 - 1011, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271225300166&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2009
    Pinese M; Chang DK; Colvin EK; Kench JG; Johns AL; Henshall SM; Sutherland RL; Biankin AV, 2009, 'A Preoperative Prognostic Nomogram for Pancreatic Cancer', PANCREAS, 38, pp. 1039 - 1039, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271225300295&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2007
    Stefani M; Markus MA; Lin RC; Dawes IW; Morris B, 2007, 'The effect of resveratrol on a cell model of human aging.', Annals of the New York Academy of Sciences, 1114, pp. 407 - 418
    Journal articles | 2006
    Morris BJ; Stefani M; Markus MA; Pinese M; Lin RCY; Dawes IW, 2006, 'Resveratrol induces expression of genes beneficial to health of mortal human fibroblasts in culture.', Journal of Hypertension, 24, pp. 396
  • Other | 2025
    Barlow-Stewart K; Courtney E; Cowley M; Ebzery C; Fuentes Bolanos N; Gifford AJ; Harden H; Josephi-Taylor S; Kotecha RS; Mateos MK; Manzur M; Mayoh C; Milnes D; Nielsen J; O’Connor M; Padhye B; Pitman C; Pitman E; Pinese M; Speechly C; Sullivan A; Trahair T; Tucker K; Tyrrell V; Warby M; Wood A; Ziegler DS; Johnston C, 2025, Correction to: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial (npj Genomic Medicine, (2025), 10, 1, (12), 10.1038/s41525-025-00470-y), http://dx.doi.org/10.1038/s41525-025-00486-4
    Preprints | 2024
    Fuentes-Bolanos N; Courtney E; Mayoh C; Warby M; Lau L; Wong-Erasmus M; Khuong-Quang D-A; Barahona P; Padhye B; El-Kamand S; Nunag S; Ajuyah P; Sherstyuk A; Altekoester A-K; Sullivan A; Poplawski N; Kiraly-Borri C; O’Sullivan S; Marfan H; Alli R; Curnow L; Bhatia K; Anazodo A; Trahair T; Mateos M; Hansford J; Dholaria H; Josephi-Taylor S; Moore A; Nicholls W; Gottardo N; Downie P; Khaw S-L; Tapp H; McCowage G; Dalla-Pozza L; Alvaro F; Wood P; Tyrrell V; Haber M; Cowley M; Ekert P; Marshall G; Kirk J; Tucker K; Pinese M; Ziegler D, 2024, Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer, http://dx.doi.org/10.1101/2024.08.08.24311493
    Conference Abstracts | 2024
    Mateos MK; Ajuyah P; Fuentes-Bolanos N; El Kamand S; Barahona P; Altekoester A; Mayoh C; Holiday H; Liu J; Cui L; Pfaff E; Mackay A; Resnick A; Pinese M; Lau LMS; Khuong-Quang D-A; Dias K; Goudie C; Salkeld A; Rokita JL; Jones DTW; Juretic N; Hayden E; Pfister SM; Kramm CM; Blattner-Johnson M; Jabado N; Tsoli M; Vittorio O; Mueller S; Guo Y; Tucker K; Waszak SM; Perreault S; Jones C; Wong-Erasmus M; Cowley MJ; Ziegler DS, 2024, 'PEDIATRIC PATIENTS WITH DIFFUSE MIDLINE GLIOMA DEMONSTRATE AN UNEXPECTED PREVALENCE OF GERMLINE VARIANTS IN HOMOLOGOUS RECOMBINATION GENES', in NEURO-ONCOLOGY, OXFORD UNIV PRESS INC, PA, Philadelphia, Vol. 26, presented at International Symposium on Pediatric Neuro-Oncology (ISPNO), PA, Philadelphia, 29 June 2024 - 02 July 2024, http://dx.doi.org/10.1093/neuonc/noae064.129
    Preprints | 2024
    Warren NM; Pinese M, 2024, AEon: A global genetic ancestry estimation tool, http://dx.doi.org/10.1101/2024.06.18.599246
    Conference Abstracts | 2023
    Courtney E; Hetherington K; Ajuyah P; Altekoester A-K; Rumford M; Dias K; Sylvester D; Fuentes-Bolanos N; Warby M; Mayoh C; Kirk J; Sullivan A; Wong M; Lau L; Dong AKQ; Ekert P; Cowley M; Wakefield C; Tyrrell V; Haber M; Ziegler D; Tucker K; Barahona P; Pinese M, 2023, 'Tumour profiling frequently informs the interpretation of germline variants arising from paired analysis in children and young people', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, SCOTLAND, Glasgow, Vol. 32, pp. 572 - 572, presented at 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), SCOTLAND, Glasgow, 10 June 2023 - 13 June 2023
    Conference Papers | 2023
    Mateos M; Ajuyah P; Bolanos NF; Barahona P; Altekoester A; Wong-Erasmus M; Cui L; Pfaff E; Mackay A; Resnick A; Pinese M; Lau L; Quang DAK; Dias K; Goudie C; Mayoh C; Cowley M; El-Kamand S; Salkeld A; Rokita JL; Jones D; Juretic N; Vittorio O; Pfister S; Jabado N; Tsoli M; Holiday H; Mueller S; Guo Y; Waszak S; Perreault S; Jones C; Ziegler D, 2023, 'PEDIATRIC DIFFUSE MIDLINE GLIOMA PATIENTS HAVE A HIGH PREVALENCE OF TARGETABLE GERMLINE VARIANTS IN HOMOLOGOUS RECOMBINATION AND MISMATCH REPAIR GENES', in PEDIATRIC BLOOD & CANCER, WILEY, pp. S133 - S134
    Conference Abstracts | 2022
    Goh S; Bowden R; Pinese M; Kirk E, 2022, 'More accurate penetrance estimates for neurosusceptibility loci lead to significantly reduced penetrance estimates', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 30, pp. 449 - 449, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367702162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2020
    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 Cancer Research, American Association for Cancer Research (AACR), Vol. 80, pp. A03 - A03, http://dx.doi.org/10.1158/1538-7445.pedca19-a03
    Preprints | 2020
    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, 2020, ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data, http://dx.doi.org/10.1101/2020.06.30.20143453
    Conference Papers | 2020
    Pavanello M; Dicks E; Song H; Ariff A; Bolithon A; Intermaggio MP; Pinese M; Moysich K; Odunsi KO; Goode E; Bowtell DD; Fasching P; Doherty JA; Modugno F; Kjær SK; Webb PM; Wu A; deFazio A; James P; Subramanian D; Campbell I; Gayther SA; Pharoah PDP; Ramus SJ, 2020, 'Abstract B37: Germline mutations in new susceptibility genes for non-high-grade serous ovarian cancer', in Clinical Cancer Research, American Association for Cancer Research (AACR), pp. B37 - B37, http://dx.doi.org/10.1158/1557-3265.ovca19-b37
    Conference Abstracts | 2020
    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 | 2019
    Ballinger ML; Pinese M; Thomas DM, 2019, 'Translating genomic risk into an early detection strategy for sarcoma', in Genes Chromosomes and Cancer, pp. 130 - 136, http://dx.doi.org/10.1002/gcc.22697
    Conference Abstracts | 2019
    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, CANADA, Montreal, Vol. 80, pp. 42 - 43, presented at AACR Special Conference on the Advances in Pediatric Cancer Research, CANADA, Montreal, 17 September 2019 - 20 September 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000551367400048&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488458005160&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    Pavanello M; Dicks E; Song H; Ariff A; Bolithon A; Intermaggio MP; Pinese M; Moysich K; Odunsi KO; Goode E; Bowtell DD; Fasching P; Doherty JA; Modugno F; Kjaer SK; Webb PM; Wu A; deFazio A; James P; Subramanian D; Campbell I; Gayther SA; Pharoah PDP; Ramus SJ, 2019, 'Germline mutations in new susceptibility genes for non-high-grade serous ovarian cancer.', in CLINICAL CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, GA, Atlanta, Vol. 26, pp. 98 - 99, presented at AACR Special Conference on Advances in Ovarian Cancer Research, GA, Atlanta, 13 September 2019 - 16 September 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000546013300152&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2019
    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, IL, Chicago, Vol. 37, presented at Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 31 May 2019 - 04 June 2019, http://dx.doi.org/10.1200/JCO.2019.37.15_suppl.3136
    Conference Abstracts | 2018
    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
    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, IL, Chicago, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), IL, Chicago, 14 April 2018 - 18 April 2018, http://dx.doi.org/10.1158/1538-7445.AM2018-LB-121
    Conference Abstracts | 2018
    Chan I; Dicks E; Intermaggio M; Song H; Tyrer J; Zhu Q; Moysich K; Odunsi K; Pharoah P; Gayther S; Pinese M; Ramus S, 2018, 'Identification of 17 Candidate Ovarian Cancer Genes from Whole-exome Sequencing in 15 Ovarian Cancer Families', in AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY, WILEY, Vol. 58, pp. 16 - 16, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000443678800043&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Dreyer S; Jamieson N; Pinese M; Upstill-Goddard R; Mckay C; Duthie F; Biankin A; Chang D, 2018, 'Precision oncology in surgery: Patient selection biomarkers for operable pancreatic cancer', in BRITISH JOURNAL OF CANCER, NATURE PUBLISHING GROUP, SCOTLAND, Glasgow, Vol. 119, pp. 48 - 48, presented at National-Cancer-Research-Institute (NCRI) Cancer Conference, SCOTLAND, Glasgow, 04 November 2018 - 06 November 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000459278300135&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Preprints | 2018
    Lacaze P; Pinese M; Kaplan W; Stone A; Brion M-J; Woods RL; McNamara M; McNeil JJ; Dinger ME; Thomas DM, 2018, The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design, http://dx.doi.org/10.1101/274019
    Conference Abstracts | 2018
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400112&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2018
    Mould E; 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; Norris M; O'Brien T; Pinese M; Dong AKQ; Trahair T; Tsoli M; Tucker K; Warby M; Wong M; Xie J; Ziegler D; Tyrrell V, 2018, 'Zero Childhood Cancer: A comprehensive precision medicine platform for children with high-risk cancer', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, IL, Chicago, Vol. 78, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), IL, Chicago, 14 April 2018 - 18 April 2018, http://dx.doi.org/10.1158/1538-7445.AM2018-LB-138
    Conference Papers | 2018
    Pinese M; Ballinger M; Thomas D, 2018, 'Abstract IA03: Translating genomic risk into an early detection strategy for sarcoma', in Clinical Cancer Research, American Association for Cancer Research (AACR), pp. IA03 - IA03, http://dx.doi.org/10.1158/1557-3265.sarcomas17-ia03
    Conference Abstracts | 2018
    Tsoli M; Wadham C; Pinese M; Failes T; Joshi S; Mould E; Yin J; Gayevski V; Kumar A; Kaplan W; Ekert P; Franshaw L; Gifford A; Weber M; Rodriguez M; Mayoh C; Cohn R; Arndt G; Lock R; Tyrrell V; Norris M; Haber M; Lau L; Dong AKQ; Wong M; Trahair T; Marshall GM; Cowley MJ; Ziegler DS, 2018, 'Integrated genomics: drug screening and personalized xenograft development approach to identify precision treatments for aggressive pediatric brain tumors', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, IL, Chicago, Vol. 78, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), IL, Chicago, 14 April 2018 - 18 April 2018, http://dx.doi.org/10.1158/1538-7445.AM2018-LB-137
    Conference Abstracts | 2018
    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
    Preprints | 2017
    Guennewig B; Davies Z; Pinese M; Cooper AA, 2017, blkbox: Integration of multiple machine learning approaches to identify disease biomarkers, http://dx.doi.org/10.1101/123430
    Conference Presentations | 2017
    Pinese M; Lacaze P; Rath E; Chuah A; Degrave D; Husson S; Kaplin W; Andrews D; Barr M; Thomas D; Dinger M, 2017, 'The Medical Genome Reference Bank – Deep genomics of a disease-depleted, elderly Australian population', presented at ComBio2017, Adelaide, -
    Conference Abstracts | 2017
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000393453600153&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2016
    Jasper MJ; Hardy T; Pinese M; McCabe M; Ledger W; Fraser M, 2016, 'Next generation sequencing (NGS) metrics following DOP-PCR whole genome amplification (WGA) of single and multi-cell samples for PGS', in HUMAN REPRODUCTION, OXFORD UNIV PRESS, pp. 402 - 402, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000453583903205&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2016
    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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388504100071&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2016
    McKay S; Humphris J; Johns A; Pinese M; Patch A-M; Nones K; Grimmond S; Biankin A; Waddell N, 2016, 'Abstract A02: Assessment of germline cancer predisposition genes in 392 unselected pancreatic cancer patients', in Cancer Research, American Association for Cancer Research (AACR), pp. A02 - A02, http://dx.doi.org/10.1158/1538-7445.panca16-a02
    Conference Abstracts | 2015
    Chin VT; Conway J; Nagrial A; Chantrill LA; Chou A; Steinmann A; Gill A; Pinese M; Wu J; Johns A; Dury A; Biankin A; Timpson P; Pajic M, 2015, 'Targeting the Rho-ROCK pathway to treat pancreatic cancer: The use of unique preclinical models to ascertain the effects on cancer growth and metastasis', in JOURNAL OF CLINICAL ONCOLOGY, AMER SOC CLINICAL ONCOLOGY, CA, San Francisco, Vol. 33, presented at Gastrointestinal Cancers Symposium, CA, San Francisco, 15 January 2015 - 17 January 2015, http://dx.doi.org/10.1200/jco.2015.33.3_suppl.312
    Conference Papers | 2013
    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 Posters | 2013
    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 | 2013
    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, LIPPINCOTT WILLIAMS & WILKINS, IL, Chicago, Vol. 31, presented at 49th Annual Meeting of the American-Society-of-Clinical-Oncology (ASCO), IL, Chicago, 31 May 2013 - 04 June 2013, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000335419603693&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2012
    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 Papers | 2009
    Chong JJ; Xaymardan M; Prall O; Chandrakanthan V; Ahmed I; Asli N; Bouveret R; Scarlett C; Colvin E; Pinese M; Biankin A; Harvey RP, 2009, 'Cardiac Stem Cells Defined by Colony Forming Unit Assays Are From an Epicardial/Mesodermal but Not Neural-Crest, Cardiomyocyte or Bone-Marrow Origin', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, FL, Orlando, pp. S808 - S808, presented at 82nd Scientific Session of the American-Heart-Association, FL, Orlando, 14 November 2009 - 18 November 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000271831502450&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2008
    Biankin AV; Kench JG; Colvin EK; Segara D; Scarlett CJ; Nguyen N; Chang D; Lee CS; Morey AL; Pinese M; Kuo S; Susanto J; Cosman PH; Linderman GJ; Visvader J; Merrett ND; Henshall SM; Musgrove EA; Sutherland RL, 2008, 'Expression of S100A2 calcium-binding protein predicts response to pancreatectomy for pancreatic cancer', in Pancreas, Lippincott Williams & Wilkins, pp. 462 - 462
    Conference Papers | 2008
    Biankin AV; Kench JG; Colvin EK; Segara D; Scarlett CJ; Nguyen N; Chang D; Morey AL; Lee CS; Pinese M; Kuo S; Susanto JM; Cosman PH; Lindeman GJ; Visvader J; Merrett ND; Musgrove EA; Henshall SM; Sutherland RL, 2008, 'EXPRESSION OF S100A2 CALCIUM-BINDING PROTEIN PREDICTS RESPONSE TO PANCREATECTOMY FOR PANCREATIC CANCER', in Pancreas, Lippincott Williams & Wilkins, Philadelphia, PA, USA, pp. 462 - 462, presented at Pancreas, http://dx.doi.org/10.1097/01.MPA.0000335385.14896.99
    Conference Papers | 2008
    Colvin EK; Scarlett CJ; Pinese M; O Toole S; Ong V; Susanto JM; Mawson AJ; Chang D; Sutherland RL; Biankin AV, 2008, 'TRANSDIFFERENTIATION OF BONE MARROW DERIVED STEM CELLS INTO MATURE PANCREATIC ACINAR CELLS', in Pancreas, Lippincott Williams & Wilkins, Philadelphia, PA, USA, pp. 465 - 465, presented at Pancreas, http://dx.doi.org/10.1097/01.MPA.0000335433.02228.5b
    Conference Abstracts | 2008
    Colvin EK; Susanto JM; O Toole S; Kench JG; Mawson AJ; Ong V; Pinese M; Scarlett CJ; Biankin AV, 2008, 'Loss of CRBP1 expression, a key component of retinoic acid signalling, is a common and early event in pancreatic cancer', in Pancreas, Lippincott Williams & Wilkins, Philadelphia, PA, USA, pp. 397 - 397, presented at Pancreas
    Conference Presentations | 2008
    Susanto JM; Colvin EK; Scarlett CJ; Ong V; Mawson AJ; Pinese M; Biankin AV, 2008, 'Retinoids, in combination with Histone Deacetylase (HDAC) inhibitors, as a potential therapy for pancreatic cancer', presented at 20th Meeting of the European Association for Cancer Research, Lyon, FRANCE, 05 July 2008 - 08 July 2008

NHMRC Emerging Leadership Fellowship, 2019
Cancer Australia Priority-Driven Collaborative Cancer Research Scheme -- Comprehensively surveying the complex genetic determinants of sarcoma risk, 2018
National Computational Infrastructure Merit Allocation Scheme -- A whole genome study to map heritable risk in sarcoma, 2017

 

  • Cure Cancer Australia Researcher of the Year, 2nd Runner Up, 2020
  • Best Presentation by an Early Career Researcher, AGTA Annual Conference, 2017
  • Precision FDA Truth Challenge, Highest SNP Precision Winner, US FDA, 2016
  • University Medal in Molecular Biology, UNSW Sydney, 2005

  • Identification, estimation, and management of paediatric cancer risk.
  • Cancer risk gene discovery
  • Signatures of somatic variation and their link to biological processes
  • Bioinformatics methods development

Pathfinders Group -- Public lecture: Precision Oncology, 2018
Garvan Institute -- Public lecture: Improving Cancer Treatment Using Genomics, 2018
Probus Club -- Public lecture: Genomics at the Garvan Institute, 2017
Rare Cancers Australia CanForum16 -- Public lecture: Applying New Technologies to Disrupt Cancer, 2016