Research publications

Alfred Health research outcomes are published in a wide range of peer reviewed journals. 

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Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

Lin WY, Fordham SE, Hungate E, Sunter NJ, Elstob C, Xu Y, Park C, Quante A, Strauch K, Gieger C, Skol A, Rahman T, Sucheston-Campbell L, Wang J, Hahn T, Clay-Gilmour AI, Jones GL, Marr HJ, Jackson GH, Menne T, Collin M, Ivey A, Hills RK, Burnett AK, Russell NH, Fitzgibbon J, Larson RA, Le Beau MM, Stock W, Heidenreich O, Alharbi A, Allsup DJ, Houlston RS, Norden J, Dickinson AM, Douglas E, Lendrem C, Daly AK, Palm L, Piechocki K, Jeffries S, Bornhäuser M, Röllig C, Altmann H, Ruhnke L, Kunadt D, Wagenführ L, Cordell HJ, Darlay R, Andersen MK, Fontana MC, Martinelli G, Marconi G, Sanz MA, Cervera J, Gómez-Seguí I, Cluzeau T, Moreilhon C, Raynaud S, Sill H, Voso MT, Lo-Coco F, Dombret H, Cheok M, Preudhomme C, Gale RE, Linch D, Gaal-Wesinger J, Masszi A, Nowak D, Hofmann WK, Gilkes A, Porkka K, Milosevic Feenstra JD, Kralovics R, Grimwade D, Meggendorfer M, Haferlach T, Krizsán S, Bödör C, Stölzel F, Onel K, Allan JM

(2021), Nat Commun, 12(1), 6233

DOI: 10.1038/s41467-021-26551-x

Laboratory quality assessment of candidate gene panel testing for acute myeloid leukaemia: a joint ALLG / RCPAQAP initiative

Corboy G, Othman J, Lee L, Wei A, Ivey A, Blombery P, Agarwal R, Fong C, Brown A, Scott H, Grove C, Louw A, Enjeti A, Iland H, Paul C, Bohlander S, Kakadia P, Horan M, Stevenson W

(2021), Pathology, 53(4), 487-92

DOI: 10.1016/j.pathol.2020.08.019

Search and Contain: Impact of an integrated genomic and epidemiological surveillance and response program for control of carbapenemase-producing Enterobacterales

Lane CR, Brett J, Schultz M, Gorrie CL, Stevens K, Cameron DRM, St George S, van Diemen A, Easton M, Stuart RL, Sait M, Peleg AY, Stewardson AJ, Cheng AC, Spelman DW, Waters MJ, Ballard SA, Sherry NL, Williamson DA, Romanes F, Sutton B, Kwong JC, Seemann T, Goncalves da Silva A, Stephens N, Howden BP

(2021), Clin Infect Dis, 73(11), e3912-20

DOI: 10.1093/cid/ciaa972

Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S, Michailidou K, Dennis J, Bolla MK, Wang Q, Jung A, Abu-Ful Z, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Freeman LEB, Becher H, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bojesen SE, Brauch H, Brenner H, Brüning T, Cai Q, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chanock SJ, Chatterjee N, Chenevix-Trench G, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dai JY, Earp HS, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Gaudet MM, Giles GG, González-Neira A, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hatse S, Heyworth J, Holleczek B, Hoover RN, Hopper JL, Howell A, Hunter DJ; ABCTB Investigators; kConFab/AOCS Investigators, John EM, Jones ME, Kaaks R, Keeman R, Kitahara CM, Ko YD, Koutros S, Kurian AW, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Linet M, Lissowska J, Llaneza A, MacInnis RJ, Martinez ME, Maurer T, McLean C, Neuhausen SL, Newman WG, Norman A, O'Brien KM, Olshan AF, Olson JE, Olsson H, Orr N, Perou CM, Pita G, Polley EC, Prentice RL, Rennert G, Rennert HS, Ruddy KJ, Sandler DP, Saunders C, Schoemaker MJ, Schöttker B, Schumacher F, Scott C, Scott RJ, Shu XO, Smeets A, Southey MC, Spinelli JJ, Stone J, Swerdlow AJ, Tamimi RM, Taylor JA, Troester MA, Vachon CM, van Veen EM, Wang X, Weinberg CR, Weltens C, Willett W, Winham SJ, Wolk A, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, Easton DF, Milne RL, García-Closas M, Chang-Claude J

(2021), JNCI-J NATL CANCER I, 113(3), 329-337

DOI: 10.1093/jnci/djaa056

Increased glutaminyl cyclase activity in brains of Alzheimer's disease individuals

Gunn AP, Wong BX, McLean C, Fowler C, Barnard PJ, Duce JA, Roberts BR; AIBL Research Group

(2021), J Neurochem, 156(6), 979-87

DOI: 10.1111/jnc.15114

Effect of Aspirin on Cancer Incidence and Mortality in Older Adults

McNeil JJ, Gibbs P, Orchard SG, Lockery JE, Bernstein WB, Cao Y, Ford L, Haydon A, Kirpach B, Macrae F, McLean C, Millar J, Murray AM, Nelson MR, Polekhina G, Reid CM, Richmond E, Rodríguez LM, Shah RC, Tie J, Umar A, Londen GJV, Ronaldson K, Wolfe R, Woods RL, Zalcberg J, Chan AT; ASPREE Investigator Group

(2021), JNCI-J NATL CANCER I, 113(3), 258-65

DOI: 10.1093/jnci/djaa114

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Bryen SJ, Oates EC, Evesson FJ, Lu JK, Waddell LB, Joshi H, Ryan MM, Cummings BB, McLean CA, MacArthur DG, Kornberg AJ, Cooper ST

(2021), Eur J Hum Genet, 29(1), 61-6

DOI: 10.1038/s41431-020-00715-7

Defective lysosome reformation during autophagy causes skeletal muscle disease

McGrath MJ, Eramo MJ, Gurung R, Sriratana A, Gehrig SM, Lynch GS, Lourdes SR, Koentgen F, Feeney SJ, Lazarou M, McLean CA, Mitchell CA

(2021), J Clin Invest, 131(1), e135124

DOI: 10.1172/JCI135124

Excellent outcomes of transformed lymphomas in the rituximab era without autologous stem cell transplantation: an Australian, single-centre experience

Tedjaseputra A, Gilbertson M, Low M, Fedele PL, Kumar B, Simpson I, Grigoriadis G, Shortt J, Opat S, Gregory GP

(2021), Intern Med J, 51(11), 1825-34

DOI: 10.1111/imj.14965

The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival

Fedele PL, Liao Y, Gong JN, Yao Y, van Delft MF, Low MSY, Tai L, Herold MJ, Jackson JT, Teh CE, Tan T, O'Reilly LA, Tellier J, Grigoriadis G, Huang DCS, Shi W, Nutt SL, Willis SN

(2021), Leukemia, 335(7), 2114-8

DOI: 10.1038/s41375-020-01078-0

Safety and efficacy of talacotuzumab plus decitabine or decitabine alone in patients with acute myeloid leukemia not eligible for chemotherapy: results from a multicenter, randomized, phase 2/3 study

Montesinos P, Roboz GJ, Bulabois CE, Subklewe M, Platzbecker U, Ofran Y, Papayannidis C, Wierzbowska A, Shin HJ, Doronin V, Deneberg S, Yeh SP, Ozcan MA, Knapper S, Cortes J, Pollyea DA, Ossenkoppele G, Giralt S, Döhner H, Heuser M, Xiu L, Singh I, Huang F, Larsen JS, Wei AH

(2021), Leukemia, 35(1), 62-74

DOI: 10.1038/s41375-020-0773-5

Venetoclax induces rapid elimination of NPM1 mutant measurable residual disease in combination with low-intensity chemotherapy in acute myeloid leukaemia

Tiong IS, Dillon R, Ivey A, Teh TC, Nguyen P, Cummings N, Taussig DC, Latif AL, Potter NE, Runglall M, Russell NH, Raj K, Schwarer AP, Fong CY, Grigg AP, Wei AH

(2021), BRIT J HAEMATOL, 192(6), 1026-30

DOI: 10.1111/bjh.16722

Venetoclax with azacitidine or decitabine in patients with newly diagnosed acute myeloid leukemia: Long term follow-up from a phase 1b study

Pollyea DA, Pratz K, Letai A, Jonas BA, Wei AH, Pullarkat V, Konopleva M, Thirman MJ, Arellano M, Becker PS, Chyla B, Hong WJ, Jiang Q, Potluri J, DiNardo CD

(2021), Am J Hematol, 96(2), 208-17

DOI: 10.1002/ajh.26039

Double trouble or a silver lining? A case report of two patients with NPM1-mutated donor-derived acute myeloid leukemia (AML)

Loh JBE, Walker P, Avery S, Patil S, Spencer A, Wei A, Fleming S

(2021), LEUKEMIA LYMPHOMA, 62(2), 489-91

DOI: 10.1080/10428194.2020.1832663

Evaluation of EuroFlow minimal residual disease measurement and donor chimerism monitoring following tandem auto-allogeneic transplantation for multiple myeloma

Tan JLC, Das T, Kliman D, Muirhead J, Gorniak M, Kalff A, Walker P, Spencer A

(2021), BONE MARROW TRANSPL, 56(5), 1116-25

DOI: 10.1038/s41409-020-01148-y

Phase II trial of single-agent panobinostat consolidation improves responses after sub-optimal transplant outcomes in multiple myeloma

Mithraprabhu S, Kalff A, Gartlan KH, Savvidou I, Khong T, Ramachandran M, Cooke RE, Bowen K, Hill GR, Reynolds J, Spencer A

(2021), BRIT J HAEMATOL, 193(1), 160-70

DOI: 10.1111/bjh.17080

Long-Term Immune Function Following Splenic Artery Embolisation for Blunt Abdominal Trauma

Lukies M, Kavnoudias H, Zia A, Lee R, Bosco JJ, Joseph T, Clements W

(2021), CARDIOVASC INTER RAD, 44(1), 167-9

DOI: 10.1007/s00270-020-02627-x

Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency

Edwards ESJ, Bosco JJ, Ojaimi S, O'Hehir RE, van Zelm MC

(2021), Cell Mol Immunol, 18(3), 588-603

DOI: 10.1038/s41423-020-00520-8

Antimicrobial resistance in the Pacific Island countries and territories.

Loftus M, Stewardson A, Naidu R, Coghlan B, Jenney A, Kepas J, Lavu E, Munamua A, Peel T, Sahai V, Tekoaua R, Tudravu L, Zinihite J, Cheng A, Rafai E, Peleg A

(2020), BMJ Glob Health, 5(4), e002418

DOI: 10.1136/bmjgh-2020-002418

Prevalence of hyperglycaemia without previously recognised diabetes mellitus in the Emergency Department and subsequent management - A retrospective cross-sectional study

Epa DS, Ng E, Schneider HG, Nagalingam V, Bach LA, Sztal-Mazer S

(2020), Intern Med J, 50(11), 1397-1403

DOI: 10.1111/imj.14720