Our medical, nursing and allied health clinicians are increasingly involved in research to improve the care of our patients. This is reflected in the breadth of our research publications.
Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias
Thijssen, R; Diepstraten, ST; Moujalled, D; Chew, E; Flensburg, C; Shi, MX; Dengler, MA; Litalien, V; MacRaild, S; Chen, M; Anstee, NS; Reljic, B; Gabriel, SS; Djajawi, TM; Riffkin, CD; Aubrey, BJ; Chang, C; Tai, L; Xu, Z; Morley, T; Pomilio, G; Bruedigam, C; Kallies, A; Stroud, DA; Bajel, A; Kluck, RM; Lane, SW; Schoumacher, M; Banquet, S; Majewski, IJ; Strasser, A; Roberts, AW; Huang, DCS; Brown, FC; Kelly, GL; Wei, AH
(2021), Blood, 2721-2735
How I treat chronic lymphocytic leukemia after venetoclax
Lew, TE; Tam, CS; Seymour, JF
(2021), Blood, 361-369
Efficacy of venetoclax plus rituximab for relapsed CLL: 5-year follow-up of continuous or limited-duration therapy
Ma, S; Seymour, JF; Brander, DM; Kipps, TJ; Choi, MY; Anderson, MA; Humphrey, K; Al Masud, A; Pesko, J; Nandam, R; Salem, AH; Chyla, B; Arzt, J; Jacobson, A; Kim, SY; Roberts, AW
(2021), Blood, 836-846
BCL2 and MCL1 inhibitors for hematologic malignancies
Roberts, AW; Wei, AH; Huang, DCS
(2021), Blood, 1120-1136
A phase 3, open-label, randomized study of asciminib, a STAMP inhibitor, vs bosutinib in CML after 2 or more prior TKIs
Rea, D; Mauro, MJ; Boquimpani, C; Minami, Y; Lomaia, E; Voloshin, S; Turkina, A; Kim, DW; Apperley, JF; Abdo, A; Fogliatto, LM; Kim, DDH; le Coutre, P; Saussele, S; Annunziata, M; Hughes, TP; Chaudhri, N; Sasaki, K; Chee, L; Garcia-Gutierrez, V; Cortes, JE; Aimone, P; Allepuz, A; Quenet, S; Bedoucha, V; Hochhaus, A
(2021), Blood, 2031-2041
A Wolf in Sheep's clothing: A case report series of oral manifestations of multiple myeloma
Beaumont, S; Koo, RM; Harrison, SJ
(2021), Aust. Dent. J., 324-331
DOI: 10.1111/adj.12808
Newly diagnosed and relapsed follicular lymphoma: ESMO Clinical Practice Guidelines tor diagnosis, treatment and follow-up
Dreyling, M; Ghielmini, M; Rule, S; Salles, G; Ladetto, M; Tonino, SH; Herfarth, K; Seymour, JF; Jerkeman, M
(2021), Ann. Oncol., 298-308
A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency
Verma, KP; Thompson, B; Wolfe, J; Price, S; Djukiadmodjo, F; Trainer, A
(2021), J. Assist. Reprod. Genet., 1539-1543
Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer
Matejcic, M; Shaban, HA; Quintana, MW; Schumacher, FR; Edlund, CK; Naghi, L; Pai, RK; Haile, RW; Levine, AJ; Buchanan, DD; Jenkins, MA; Figueiredo, JC; Rennert, G; Gruber, SB; Li, L; Casey, G; Conti, DV; Schmit, SL
(2021), Cancer Epidemiol. Biomarkers Prev., 895-903
Genetic testing in dementia-A medical genetics perspective
Huq, AJ; Sexton, A; Lacaze, P; Masters, CL; Storey, E; Velakoulis, D; James, PA; Winship, IM
(2021), Int. J. Geriatr. Psychiatr., 1158-1170
DOI: 10.1002/gps.5535
The Dose Makes the Poison
Brodtmann, A; Huq, A
(2021), Neurol.-Genet.
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome
Pope, BJ; Clendenning, M; Rosty, C; Mahmood, K; Georgeson, P; Joo, JE; Walker, R; Hutchinson, RA; Jayasekara, H; Joseland, S; Como, J; Preston, S; Spurdle, AB; Macrae, FA; Win, AK; Hopper, JL; Jenkins, MA; Winship, IM; Buchanan, DD
(2021), J. Mol. Diagn., 358-371
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers
Georgeson, P; Pope, BJ; Rosty, C; Clendenning, M; Mahmood, K; Joo, JE; Walker, R; Hutchinson, RA; Preston, S; Como, J; Joseland, S; Win, AK; Macrae, FA; Hopper, JL; Mouradov, D; Gibbs, P; Sieber, OM; O'Sullivan, DE; Brenner, DR; Gallinger, S; Jenkins, MA; Winship, IM; Buchanan, DD
(2021), Gut, 2138-2149
DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer
Joo, JE; Clendenning, M; Wong, EM; Rosty, C; Mahmood, K; Georgeson, P; Winship, IM; Preston, SG; Win, AK; Dugue, PA; Jayasekara, H; English, D; Macrae, FA; Hopper, JL; Jenkins, MA; Milne, RL; Giles, GG; Southey, MC; Buchanan, DD
(2021), Cancers
Universal genetic testing of patients with newly diagnosed breast cancer - ready for prime time?
De Silva, DL; James, PA; Mann, GB; Lindeman, GJ
(2021), Med. J. Aust., 449
DOI: 10.5694/mja2.51317
Commentary: Pivoting during a pandemic: developing a new recruitment model for a randomised controlled trial in response to COVID-19
Milton, S; McIntosh, J; Boyd, L; Karnchanachari, N; Macrae, F; Emery, JD
(2021), Trials
Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives
Sexton, A; West, K; Gill, G; Wiseman, A; Taylor, J; Purvis, R; Fahey, M; Storey, E; Walsh, M; James, P
(2021), Psychol. Health, 1397-1402
Communicating polygenic risk scores in the familial breast cancer clinic
Das Gupta, K; Gregory, G; Meiser, B; Kaur, R; Scheepers-Joynt, M; McInerny, S; Taylor, S; Barlow-Stewart, K; Antill, Y; Salmon, L; Smyth, C; McInerney-Leo, A; Young, MA; James, PA; Yanes, T
(2021), Patient Educ. Couns., 2512-2521
Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study
Nounu, A; Richmond, RC; Stewart, ID; Surendran, P; Wareham, NJ; Butterworth, A; Weinstein, SJ; Albanes, D; Baron, JA; Hopper, JL; Figueiredo, JC; Newcomb, PA; Lindor, NM; Casey, G; Platz, EA; Marchand, LL; Ulrich, CM; Li, CI; van Dujinhoven, FJB; Gsur, A; Campbell, PT; Moreno, V; Vodicka, P; Vodickova, L; Amitay, E; Alwers, E; Chang-Claude, J; Sakoda, LC; Slattery, ML; Schoen, RE; Gunter, MJ; Castellvi-Bel, S; Kim, HR; Kweon, SS; Chan, AT; Li, L; Zheng, W; Bishop, DT; Buchanan, DD; Giles, GG; Gruber, SB; Rennert, G; Stadler, ZK; Harrison, TA; Lin, Y; Keku, TO; Woods, MO; Schafmayer, C; Van Guelpen, B; Gallinger, S; Hampel, H; Berndt, SI; Pharoah, PDP; Lindblom, A; Wolk, A; Wu, AH; White, E; Peters, U; Drew, DA; Scherer, D; Bermejo, JL; Brenner, H; Hoffmeister, M; Williams, AC; Relton, CL
(2021), Nutrients
DOI: 10.3390/nu13114164
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent
Lacaze, P; Sebra, R; Riaz, M; Ingles, J; Tiller, J; Thompson, BA; James, PA; Fatkin, D; Semsarian, C; Reid, CM; Tonkin, AM; Winship, I; Schadt, E; McNeil, JJ
(2021), npj Genom. Med.
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing
Southey, MC; Dowty, JG; Riaz, M; Steen, JA; Renault, AL; Tucker, K; Kirk, J; James, P; Winship, I; Pachter, N; Poplawski, N; Grist, S; Park, DJ; Pope, BJ; Mahmood, K; Hammet, F; Mahmoodi, M; Tsimiklis, H; Theys, D; Rewse, A; Willis, A; Morrow, A; Speechly, C; Harris, R; Sebra, R; Schadt, E; Lacaze, P; McNeil, JJ; Giles, GG; Milne, RL; Hopper, JL; Nguyen-Dumont, T
(2021), npj Breast Cancer
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study
Li, N; Lim, BWX; Thompson, ER; McInerny, S; Zethoven, M; Cheasley, D; Rowley, SM; Wong-Brown, MW; Devereux, L; Gorringe, KL; Sloan, EK; Trainer, A; Scott, RJ; James, PA; Campbell, IG
(2021), npj Breast Cancer
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Li, N; Zethoven, M; McInerny, S; Devereux, L; Huang, YK; Thio, N; Cheasley, D; Gutierrez-Enriquez, S; Moles-Fernandez, A; Diez, O; Nguyen-Dumont, T; Southey, MC; Hopper, JL; Simard, J; Dumont, M; Soucy, P; Meindl, A; Schmutzler, R; Schmidt, MK; Adank, MA; Andrulis, IL; Hahnen, E; Engel, C; Lesueur, F; Girard, E; Neuhausen, SL; Ziv, E; Allen, J; Easton, DF; Scott, RJ; Gorringe, KL; James, PA; Campbell, IG
(2021), npj Breast Cancer
Intravital microscopy of dynamic single-cell behavior in mouse mammary tissue
Dawson, CA; Mueller, SN; Lindeman, GJ; Rios, AC; Visvader, JE
(2021), Nat. Protoc., 1907
Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2)
Swisher, EM; Kwan, TT; Oza, AM; Tinker, AV; Ray-Coquard, I; Oaknin, A; Coleman, RL; Aghajanian, C; Konecny, GE; O'Malley, DM; Leary, A; Provencher, D; Welch, S; Chen, LM; Hendrickson, AEW; Ma, L; Ghatage, P; Kristeleit, RS; Dorigo, O; Musafer, A; Kaufmann, SH; Elvin, JA; Lin, DI; Chambers, SK; Dominy, E; Vo, LT; Goble, S; Maloney, L; Giordano, H; Harding, T; Dobrovic, A; Scott, CL; Lin, KK; McNeish, IA
(2021), Nat. Commun.
Mammary tumour cells remodel the bone marrow vascular microenvironment to support metastasis
Yip, RKH; Rimes, JS; Capaldo, BD; Vaillant, F; Mouchemore, KA; Pal, B; Chen, YS; Surgenor, E; Murphy, AJ; Anderson, RL; Smyth, GK; Lindeman, GJ; Hawkins, ED; Visvader, JE
(2021), Nat. Commun.
Monitoring the genetic testing and life insurance moratorium in Australia: a national research project
Tiller, J; Winship, I; Otlowski, MF; Lacaze, PA
(2021), Med. J. Aust., 157
DOI: 10.5694/mja2.50922
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion
Akesson, LS; Francis, D; de Silva, MG; Cole, T; Simm, P; Oliver, M; White, SM
(2021), J. Paediatr. Child Health, 1109-1112
DOI: 10.1111/jpc.15124
Clinically Responsive Genomic Analysis Pipelines Elements to Improve Detection Rate and Efficiency
Sundercombe, SL; Berbic, M; Evans, CA; Cliffe, C; Elakis, G; Temple, SEL; Selvanathan, A; Ewans, L; Quayum, N; Nixon, CY; Dias, KR; Lang, S; Richards, A; Goh, S; Wilson, M; Mowat, D; Sachdev, R; Sandaradura, S; Walsh, M; Farrar, MA; Walsh, R; Fletcher, J; Kirk, EP; Teunisse, GM; Scho, D; Buckley, MF; Zhu, Y; Roscioli, T
(2021), J. Mol. Diagn., 894-905
Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: 'Another piece of the pie'
Willis, AM; Smith, SK; Meiser, B; James, PA; Ballinger, ML; Thomas, DM; Yanes, T; Young, MA
(2021), J. Genet. Couns., 849-860
DOI: 10.1002/jgc4.1384