Select Publications

Journal articles

Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, 13, pp. 32, http://dx.doi.org/10.1186/s13073-021-00841-x

Lin FP; Thavaneswaran S; Grady JP; Ballinger M; Kansara M; Oakes SR; Desai J; Lee CK; Simes J; Thomas DM, 2021, 'Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology', npj Precision Oncology, 5, pp. 58, http://dx.doi.org/10.1038/s41698-021-00194-z

Gong B; Li D; Kusko R; Novoradovskaya N; Zhang Y; Wang S; Pabón-Peña C; Zhang Z; Lai K; Cai W; LoCoco JS; Lader E; Richmond TA; Mittal VK; Liu LC; Johann DJ; Willey JC; Bushel PR; Yu Y; Xu C; Chen G; Burgess D; Cawley S; Giorda K; Haseley N; Qiu F; Wilkins K; Arib H; Attwooll C; Babson K; Bao L; Bao W; Lucas AB; Best H; Bhandari A; Bisgin H; Blackburn J; Blomquist TM; Boardman L; Burgher B; Butler DJ; Chang CJ; Chaubey A; Chen T; Chierici M; Chin CR; Close D; Conroy J; Coleman JC; Craig DJ; Crawford E; del Pozo A; Deveson IW; Duncan D; Eterovic AK; Fan X; Foox J; Furlanello C; Ghosal A; Glenn S; Guan M; Haag C; Hang X; Happe S; Hennigan B; Hipp J; Hong H; Horvath K; Hu J; Hung LY; Jarosz M; Kerkhof J; Kipp B; Kreil DP; Łabaj P; Lapunzina P; Li P; Li QZ; Li W; Li Z; Liang Y; Liu S; Liu Z; Ma C; Marella N; Martín-Arenas R; Megherbi DB; Meng Q; Mieczkowski PA; Morrison T; Muzny D; Ning B; Parsons BL; Paweletz CP; Pirooznia M; Qu W; Raymond A; Rindler P; Ringler R; Sadikovic B; Mercer T; Thomas D, 2021, 'Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions', Genome Biology, 22, pp. 109, http://dx.doi.org/10.1186/s13059-021-02315-0

Bartley N; Davies G; Butow P; Napier CE; Schlub T; Ballinger ML; Thomas DM; Juraskova I; Meiser B; Best MC, 2021, 'Fear of cancer recurrence in patients undergoing germline genome sequencing', Supportive Care in Cancer, 29, pp. 7289 - 7297, http://dx.doi.org/10.1007/s00520-021-06311-9

Cilento MA; Poplawski NK; Paramasivam S; Thomas DM; Kichenadasse G, 2021, 'Germline PALB2 variants and PARP inhibitors in endometrial cancer', JNCCN Journal of the National Comprehensive Cancer Network, 19, pp. 1212 - 1217, http://dx.doi.org/10.6004/jnccn.2021.7067

Butow P; Müller F; Napier CE; Bartley N; Ballinger ML; Biesecker B; Juraskova I; Meiser B; Schlub TE; Thomas DM; Goldstein D; Best MC; Newson A; Tucker K; Vines R; Vines K; Kirk J; Young MA; Savard J; Jacobs C, 2021, 'Longitudinal patterns in fear of cancer progression in patients with rare, advanced cancers undergoing comprehensive tumour genomic profiling', Psycho-Oncology, 30, pp. 1920 - 1929, http://dx.doi.org/10.1002/pon.5764

Singhal D; Hahn CN; Feurstein S; Wee LYA; Moma L; Kutyna MM; Chhetri R; Eshraghi L; Schreiber AW; Feng J; Wang PPS; Babic M; Parker WT; Gao S; Moore S; Das S; Thomas D; Pattnaik S; Brown AL; D’Andrea RJ; Poplawski NK; Thomas D; Scott HS; Godley LA; Hiwase DK, 2021, 'Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer', Leukemia, 35, pp. 3245 - 3256, http://dx.doi.org/10.1038/s41375-021-01246-w

Thavaneswaran S; Ballinger M; Butow P; Meiser B; Goldstein D; Lin F; Napier C; Thomas D; Best M, 2021, 'The experiences and needs of australian medical oncologists in integrating comprehensive genomic profiling into clinical care: A nation-wide survey', Oncotarget, 12, pp. 2169 - 2176, http://dx.doi.org/10.18632/ONCOTARGET.28076

Stacchiotti S; Frezza AM; Blay JY; Baldini EH; Bonvalot S; Bovée JVMG; Callegaro D; Casali PG; Chiang RRCJ; Demetri GD; Demicco EG; Desai J; Eriksson M; Gelderblom H; George S; Gounder MM; Gronchi A; Gupta A; Haas RL; Hayes-Jardon A; Hohenberger P; Jones KB; Jones RL; Kasper B; Kawai A; Kirsch DG; Kleinerman ES; Le Cesne A; Lim J; Chirlaque López MD; Maestro R; Marcos-Gragera R; Martin Broto J; Matsuda T; Mir O; Patel SR; Raut CP; Razak ARA; Reed DR; Rutkowski P; Sanfilippo RG; Sbaraglia M; Schaefer IM; Strauss DC; Sundby Hall K; Tap WD; Thomas DM; van der Graaf WTA; van Houdt WJ; Visser O; von Mehren M; Wagner AJ; Wilky BA; Won YJ; Fletcher CDM; Dei Tos AP; Trama A, 2021, 'Ultra-rare sarcomas: A consensus paper from the Connective Tissue Oncology Society community of experts on the incidence threshold and the list of entities', Cancer, 127, pp. 2934 - 2942, http://dx.doi.org/10.1002/cncr.33618

Vatter S; Bartley N; Best M; Juraskova I; Jacobs C; Ballinger ML; Thomas DM; Butow P, 2021, 'Does undertaking genome sequencing prompt actual and planned lifestyle-related behavior change in cancer patients and survivors? A qualitative study', Journal of Psychosocial Oncology Research and Practice, 3, pp. E059, http://dx.doi.org/10.1097/OR9.0000000000000059

Willis AM; Smith SK; Meiser B; James PA; Ballinger ML; Thomas DM; Yanes T; Young MA, 2021, 'Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: ‘Another piece of the pie’', Journal of Genetic Counseling, 30, pp. 849 - 860, http://dx.doi.org/10.1002/jgc4.1384

Smit AK; Bartley N; Best MC; Napier CE; Butow P; Newson AJ; Tucker K; Ballinger ML; Thomas DM; Jacobs C; Meiser B; Goldstein D; Savard J; Juraskova I, 2021, 'Family communication about genomic sequencing: A qualitative study with cancer patients and relatives', Patient Education and Counseling, 104, pp. 944 - 952, http://dx.doi.org/10.1016/j.pec.2020.10.022

Scheinberg T; Lomax A; Tattersall M; Thomas D; McCowage G; Sullivan M; Karim R; Luk PP; Mahar A; Bonar F; Bhadri VA, 2021, 'PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma', Cancer Reports, 4, http://dx.doi.org/10.1002/cnr2.1327

Kovac M; Woolley C; Ribi S; Blattmann C; Roth E; Morini M; Kovacova M; Ameline B; Kulozik A; Bielack S; Hartmann W; Ballinger ML; Thomas DM; Tomlinson I; Nathrath M; Heinimann K; Baumhoer D, 2021, 'Germline RET variants underlie a subset of paediatric osteosarcoma', Journal of Medical Genetics, 58, pp. 20 - 24, http://dx.doi.org/10.1136/jmedgenet-2019-106734

Mweempwa A; Xu H; Vissers JHA; Tothill RW; Pattison AD; Fellowes AP; Thomas DM; Richardson G; Hicks RJ; Grimmond SM; Fox SB; Luen SJ; Desai J; Solomon BJ, 2021, 'Novel RET fusion RET-SEPTIN9 predicts response to selective RET inhibition with selpercatinib in malignant pheochromocytoma', JCO Precision Oncology, 5, pp. 1160 - 1165, http://dx.doi.org/10.1200/PO.21.00127

Alcindor T; Dumitra S; Albritton K; Thomas DM, 2021, 'Disparities in Cancer Care: The Example of Sarcoma-In Search of Solutions for a Global Issue.', Am Soc Clin Oncol Educ Book, 41, pp. 1 - 7, http://dx.doi.org/10.1200/EDBK_320463

Ballinger ML; Thomas D, 2021, 'Heritable cancer risk in the genomic ERA', Pathology, 53, pp. S10 - S10, http://dx.doi.org/10.1016/j.pathol.2021.05.038

Kaur S; Sikta N; Schafferhans A; Bordin N; Cowley M; Thomas D; Ballinger M; O’Donoghue S, 2021, 'Streamlined use of protein structures in variant analysis', , http://dx.doi.org/10.1101/2021.09.10.459756

Heyer EE; Deveson IW; Wooi D; Selinger CI; Lyons RJ; Hayes VM; O’Toole SA; Ballinger ML; Gill D; Thomas DM; Mercer TR; Blackburn J; O'Toole S, 2020, 'Author Correction: Diagnosis of fusion genes using targeted RNA sequencing (Nature Communications, (2019), 10, 1, (1388), 10.1038/s41467-019-09374-9)', Nature Communications, 11, pp. 1810, http://dx.doi.org/10.1038/s41467-020-15697-9

Kalachand RD; Stordal B; Madden S; Chandler B; Cunningham J; Goode EL; Ruscito I; Braicu EI; Sehouli J; Ignatov A; Yu H; Katsaros D; Mills GB; Lu KH; Carey MS; Timms KM; Kupryjanczyk J; Rzepecka IK; Podgorska A; McAlpine JN; Swisher EM; Bernards SS; O'Riain C; O'Toole S; O'Leary JJ; Bowtell DD; Thomas DM; Prieske K; Joosse SA; Woelber L; Chaudhry P; Häfner N; Runnebaum IB; Hennessy BT, 2020, 'BRCA1 Promoter Methylation and Clinical Outcomes in Ovarian Cancer: An Individual Patient Data Meta-Analysis', Journal of the National Cancer Institute, 112, pp. 1190 - 1203, http://dx.doi.org/10.1093/jnci/djaa070

Pinese M; Lacaze P; Rath EM; Stone A; Brion MJ; Ameur A; Nagpal S; Puttick C; Husson S; Degrave D; Cristina TN; Kahl VFS; Statham AL; Woods RL; McNeil JJ; Riaz M; Barr M; Nelson MR; Reid CM; Murray AM; Shah RC; Wolfe R; Atkins JR; Fitzsimmons C; Cairns HM; Green MJ; Carr VJ; Cowley MJ; Pickett HA; James PA; Powell JE; Kaplan W; Gibson G; Gyllensten U; Cairns MJ; McNamara M; Dinger ME; Thomas DM, 2020, 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly', Nature Communications, 11, pp. 435, http://dx.doi.org/10.1038/s41467-019-14079-0

Demetri GD; Antonescu CR; Bjerkehagen B; Bovée JVMG; Boye K; Chacón M; Dei Tos AP; Desai J; Fletcher JA; Gelderblom H; George S; Gronchi A; Haas RL; Hindi N; Hohenberger P; Joensuu H; Jones RL; Judson I; Kang YK; Kawai A; Lazar AJ; Le Cesne A; Maestro R; Maki RG; Martín J; Patel S; Penault-Llorca F; Premanand Raut C; Rutkowski P; Safwat A; Sbaraglia M; Schaefer IM; Shen L; Serrano C; Schöffski P; Stacchiotti S; Sundby Hall K; Tap WD; Thomas DM; Trent J; Valverde C; van der Graaf WTA; von Mehren M; Wagner A; Wardelmann E; Naito Y; Zalcberg J; Blay JY, 2020, 'Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network', Annals of Oncology, 31, pp. 1506 - 1517, http://dx.doi.org/10.1016/j.annonc.2020.08.2232

Wong M; Mayoh C; Lau LMS; Khuong-Quang DA; Pinese M; Kumar A; Barahona P; Wilkie EE; Sullivan P; Bowen-James R; Syed M; Martincorena I; Abascal F; Sherstyuk A; Bolanos NA; Baber J; Priestley P; Dolman MEM; Fleuren EDG; Gauthier ME; Mould EVA; Gayevskiy V; Gifford AJ; Grebert-Wade D; Strong PA; Manouvrier E; Warby M; Thomas DM; Kirk J; Tucker K; O’Brien T; Alvaro F; McCowage GB; Dalla-Pozza L; Gottardo NG; Tapp H; Wood P; Khaw SL; Hansford JR; Moore AS; Norris MD; Trahair TN; Lock RB; Tyrrell V; Haber M; Marshall GM; Ziegler DS; Ekert PG; Cowley MJ; O'Brien T; Wong-Erasmus M, 2020, 'Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer', Nature Medicine, 26, pp. 1742 - 1753, http://dx.doi.org/10.1038/s41591-020-1072-4

Bartley N; Best M; Jacobs C; Juraskova I; Newson AJ; Savard J; Meiser B; Ballinger ML; Thomas DM; Biesecker B; Butow P, 2020, 'Cancer patients' views and understanding of genome sequencing: A qualitative study', Journal of Medical Genetics, 57, pp. 671 - 676, http://dx.doi.org/10.1136/jmedgenet-2019-106410

Davies G; Butow P; Napier CE; Bartley N; Juraskova I; Meiser B; Ballinger ML; Thomas DM; Schlub TE; Best MC, 2020, 'Advanced Cancer Patient Knowledge of and Attitudes towards Tumor Molecular Profiling', Translational Oncology, 13, pp. 100799, http://dx.doi.org/10.1016/j.tranon.2020.100799

Lim LE; Chan DL; Thomas D; Du Y; Tincknell G; Kuchel A; Davis A; Bailey DL; Pavlakis N; Cehic G; Macdonald W; Wyld D; Segelov E, 2020, 'Australian experience of peptide receptor radionuclide therapy in lung neuroendocrine tumours', Oncotarget, 11, pp. 2636 - 2646, http://dx.doi.org/10.18632/oncotarget.27659

Joshua AM; Prawira A; Thavaneswaran S; Cosman R; Lee CK; Sjoquist KM; Simes J; Thomas DM; Espinoza D; Sebastian L; Ballinger ML; Hague W; Chinchen S; Collignon E; Kansara M; Palacios T; Grady J; Barker H; Thornton K, 2020, 'A signal-seeking trial of olaparib and durvalumab in homologous repair-deficient tumors: A sub-study of the cancer molecular screening and therapeutics (MoST) program.', Journal of Clinical Oncology, 38, pp. 3073 - 3073, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.3073

Zaheed M; Tucker K; Ballinger ML; Thomas DM, 2020, 'Genotype and phenotype correlation of common cancer predisposition syndromes in sarcoma cases.', Journal of Clinical Oncology, 38, pp. 1524 - 1524, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1524

Butow P; Davies G; Napier C; Thomas DM; Bartley N; Goldstein D; Ballinger ML; Juraskova I; Schlub TE; Tucker K; Meiser B; Young M-A, 2020, 'Return of results after somatic tumor mutation profiling in advanced cancer: Psychological impacts.', Journal of Clinical Oncology, 38, pp. 1541 - 1541, http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1541

Butow P; Butow P; Davies G; Napier CE; Schlub T; Best MC; Bartley N; Juraskova I; Meiser B; Ballinger ML; Biesecker B; Goldstein D; Thomas DM, 2020, 'Assessment of the Value of Tumor Variation Profiling Perceived by Patients with Cancer', JAMA Network Open, 3, pp. e204721, http://dx.doi.org/10.1001/jamanetworkopen.2020.4721

Mirabello L; Zhu B; Koster R; Karlins E; Dean M; Yeager M; Gianferante M; Spector LG; Morton LM; Karyadi D; Robison LL; Armstrong GT; Bhatia S; Song L; Pankratz N; Pinheiro M; Gastier-Foster JM; Gorlick R; De Toledo SRC; Petrilli AS; Patino-Garcia A; Lecanda F; Gutierrez-Jimeno M; Serra M; Hattinger C; Picci P; Scotlandi K; Flanagan AM; Tirabosco R; Amary MF; Kurucu N; Ilhan IE; Ballinger ML; Thomas DM; Barkauskas DA; Mejia-Baltodano G; Valverde P; Hicks BD; Wang M; Hutchinson AA; Tucker M; Sampson J; Landi MT; Freedman ND; Gapstur S; Carter B; Hoover RN; Chanock SJ; Savage SA, 2020, 'Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients with Osteosarcoma', JAMA Oncology, 6, pp. 724 - 734, http://dx.doi.org/10.1001/jamaoncol.2020.0197

Cipponi A; Goode DL; Bedo J; McCabe MJ; Pajic M; Croucher DR; Rajal AG; Junankar SR; Saunders DN; Lobachevsky P; Papenfuss AT; Nessem D; Nobis M; Warren SC; Timpson P; Cowley M; Vargas AC; Qiu MR; Generali DG; Keerthikumar S; Nguyen U; Corcoran NM; Long GV; Blay J-Y; Thomas DM; McCabe M, 2020, 'MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer', Science

Best MC; Butow P; Jacobs C; Savard J; Biesecker B; Ballinger ML; Bartley N; Davies G; Napier CE; Smit AK; Thomas DM; Newson AJ, 2020, 'Who should access germline genome sequencing? A mixed methods study of patient views', Clinical Genetics, 97, pp. 329 - 337, http://dx.doi.org/10.1111/cge.13664

Shin SJ; Dodd-Eaton EB; Peng G; Bojadzieva J; Chen J; Amos CI; Frone MN; Khincha PP; Mai PL; Savage SA; Ballinger ML; Thomas DM; Yuan Y; Strong LC; Wang W, 2020, 'Penetrance of different cancer types in families with Li-Fraumeni syndrome: A validation study using multicenter cohorts', Cancer Research, 80, pp. 354 - 360, http://dx.doi.org/10.1158/0008-5472.CAN-19-0728

Dancsok AR; Gao D; Lee AF; Steigen SE; Blay JY; Thomas DM; Maki RG; Nielsen TO; Demicco EG, 2020, 'Tumor-associated macrophages and macrophage-related immune checkpoint expression in sarcomas', OncoImmunology, 9, pp. 1747340, http://dx.doi.org/10.1080/2162402X.2020.1747340

Lin F; Thavaneswaran S; Grady J; Ballinger M; Kansara M; Oakes S; Desai J; Lee CK; Simes J; Thomas D, 2020, 'Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology', , http://dx.doi.org/10.1101/2020.12.18.20248521

Ballinger ML; Thomas D, 2020, 'Heritable cancer risk in the genomic era', Pathology, 52, pp. S28 - S29, http://dx.doi.org/10.1016/j.pathol.2020.01.118

Heyer EE; Deveson IW; Wooi D; Selinger CI; Lyons RJ; Hayes VM; O’Toole SA; Ballinger ML; Gill D; Thomas DM; Mercer TR; Blackburn J; O'Toole S, 2019, 'Diagnosis of fusion genes using targeted RNA sequencing', Nature Communications, 10, pp. 1388, http://dx.doi.org/10.1038/s41467-019-09374-9

Dancsok AR; Setsu N; Gao D; Blay JY; Thomas D; Maki RG; Nielsen TO; Demicco EG, 2019, 'Expression of lymphocyte immunoregulatory biomarkers in bone and soft-tissue sarcomas', Modern Pathology, 32, pp. 1772 - 1785, http://dx.doi.org/10.1038/s41379-019-0312-y

Kansara M; Thomson K; Pang P; Dutour A; Mirabello L; Acher F; Pin JP; Demicco EG; Yan J; Teng MWL; Smyth MJ; Thomas DM, 2019, 'Infiltrating myeloid cells drive osteosarcoma progression via GRM4 regulation of IL23', Cancer Discovery, 9, pp. 1511 - 1519, http://dx.doi.org/10.1158/2159-8290.CD-19-0154

Tap WD; Gelderblom H; Palmerini E; Desai J; Bauer S; Blay JY; Alcindor T; Ganjoo K; Martín-Broto J; Ryan CW; Thomas DM; Peterfy C; Healey JH; van de Sande M; Gelhorn HL; Shuster DE; Wang Q; Yver A; Hsu HH; Lin PS; Tong-Starksen S; Stacchiotti S; Wagner AJ, 2019, 'Pexidartinib versus placebo for advanced tenosynovial giant cell tumour (ENLIVEN): a randomised phase 3 trial', The Lancet, 394, pp. 478 - 487, http://dx.doi.org/10.1016/S0140-6736(19)30764-0

Best MC; Bartley N; Jacobs C; Juraskova I; Goldstein D; Newson AJ; Savard J; Meiser B; Ballinger M; Napier C; Thomas D; Biesecker B; Butow P; Tucker K; Schlub T; Vines R; Vines K; Kirk J; Young MA, 2019, 'Patient perspectives on molecular tumor profiling: "why wouldn't you?"', BMC Cancer, 19, pp. 753, http://dx.doi.org/10.1186/s12885-019-5920-x

Fortuno C; Cipponi A; Ballinger ML; Tavtigian SV; Olivier M; Ruparel V; Haupt Y; Haupt S; Study ISK; Tucker K; Spurdle AB; Thomas DM; James PA, 2019, 'A quantitative model to predict pathogenicity of missense variants in the TP53 gene', Human Mutation, 40, pp. 788 - 800, http://dx.doi.org/10.1002/humu.23739

Thavaneswaran S; Rath E; Tucker K; Joshua AM; Hess D; Pinese M; Ballinger ML; Thomas DM, 2019, 'Author Correction: Therapeutic implications of germline genetic findings in cancer (Nature Reviews Clinical Oncology, (2019), 16, 6, (386-396), 10.1038/s41571-019-0179-3)', Nature Reviews Clinical Oncology, 16, pp. 397, http://dx.doi.org/10.1038/s41571-019-0212-6

Thavaneswaran S; Rath E; Tucker K; Joshua AM; Hess D; Pinese M; Ballinger ML; Thomas DM, 2019, 'Therapeutic implications of germline genetic findings in cancer', Nature Reviews Clinical Oncology, 16, pp. 386 - 396, http://dx.doi.org/10.1038/s41571-019-0179-3

Thavaneswaran S; Napier C; Goldstein D; Meiser B; Butow P; Thomas DM; Ballinger ML; Best M, 2019, 'Medical oncologists’ experience with returning molecular tumor profiling to patients.', Journal of Clinical Oncology, 37, pp. 10521 - 10521, http://dx.doi.org/10.1200/jco.2019.37.15_suppl.10521

Jones RM; Melton PE; Pinese M; Rea AJ; Ingley E; Ballinger ML; Wood DJ; Thomas DM; Moses EK, 2019, 'Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts', BMC Medical Genetics, 20, http://dx.doi.org/10.1186/s12881-019-0808-9

Vargas AC; Selinger C; Satgunaseelan L; Cooper WA; Gupta R; Stalley P; Brown W; Soper J; Schatz J; Boyle R; Thomas DM; Tattersall MHN; Bhadri V; Maclean F; Bonar SF; Scolyer RA; Karim RZ; McCarthy SW; Mahar A; O'Toole SA, 2019, 'FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center', Asia-Pacific Journal of Clinical Oncology, 15, pp. 38 - 47, http://dx.doi.org/10.1111/ajco.12980

Lacaze P; Pinese M; Kaplan W; Stone A; Brion MJ; Woods RL; McNamara M; McNeil JJ; Dinger ME; Thomas DM, 2019, 'The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design', European Journal of Human Genetics, 27, pp. 308 - 316, http://dx.doi.org/10.1038/s41431-018-0279-z

McCabe MJ; Pinese M; Chan CL; Sheriff N; Thompson TJ; Grady J; Wong M; Gauthier MEA; Puttick C; Gayevskiy V; Hajdu E; Wong SQ; Barrett W; Earls P; Lukeis R; Cheng YY; Lin RCY; Thomas DM; Watkins DN; Dinger ME; McCormack AI; Cowley MJ; Wong-Erasmus M, 2019, 'Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases', Cold Spring Harbor Molecular Case Studies, 5, pp. a003764, http://dx.doi.org/10.1101/mcs.a003764


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