Select Publications

Journal articles

Dwarte T; Barlow-Stewart K; O’Shea R; Dinger ME; Terrill B, 2019, 'Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners', Journal of Genetic Counseling, 28, pp. 378 - 387, http://dx.doi.org/10.1002/jgc4.1053

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST; Palmer E, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013

Minoche AE; Horvat C; Johnson R; Gayevskiy V; Morton SU; Drew AP; Woo K; Statham AL; Lundie B; Bagnall RD; Ingles J; Semsarian C; Seidman JG; Seidman CE; Dinger ME; Cowley MJ; Fatkin D, 2019, 'Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy', Genetics in Medicine, 21, pp. 650 - 662, http://dx.doi.org/10.1038/s41436-018-0084-7

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

Sweeney BA; Petrov AI; Burkov B; Finn RD; Bateman A; Szymanski M; Karlowski WM; Gorodkin J; Seemann SE; Cannone JJ; Gutell RR; Fey P; Basu S; Kay S; Cochrane G; Billis K; Emmert D; Marygold SJ; Huntley RP; Lovering RC; Frankish A; Chan PP; Lowe TM; Bruford E; Seal R; Vandesompele J; Volders P-J; Paraskevopoulou M; Ma L; Zhang Z; Griffiths-Jones S; Bujnicki JM; Boccaletto P; Blake JA; Bult CJ; Chen R; Zhao Y; Wood V; Rutherford K; Rivas E; Cole J; Laulederkind SJF; Shimoyama M; Gillespie ME; Orlic-Milacic M; Kalvari I; Nawrocki E; Engel SR; Cherry JM; Team SILVA; Berardini TZ; Hatzigeorgiou A; Karagkouni D; Howe K; Davis P; Dinger M; He S; Yoshihama M; Kenmochi N; Stadler PF; Williams KP, 2019, 'RNAcentral: a hub of information for non-coding RNA sequences', Nucleic Acids Research, 47, pp. D1250 - D1251, http://dx.doi.org/10.1093/nar/gky1206

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

Currey N; Jahan Z; Caldon CE; Tran PN; Benthani F; De Lacavalerie P; Roden DL; Gloss BS; Campos C; Bean EG; Bullman A; Reibe-Pal S; Dinger ME; Febbraio MA; Clarke SJ; Dahlstrom JE; Kohonen-Corish MRJ, 2019, 'Mouse Model of Mutated in Colorectal Cancer Gene Deletion Reveals Novel Pathways in Inflammation and Cancer', Cellular and Molecular Gastroenterology and Hepatology, 7, pp. 819 - 839, http://dx.doi.org/10.1016/j.jcmgh.2019.01.009

Zammit N; Siggs OM; Gray P; King C; Christ D; Goodnow CC; Grey S; Cowley M; Craig M; Dinger M; Ziegler J; Villanueva J; Cultrone D; Brink R, 2019, 'Phospho-tuning immunity through Denisovan, modern human and mouse TNFAIP3 gene variants', bioRxiv, pp. 589507, http://dx.doi.org/10.1101/589507

Sweeney BA; Petrov AI; Burkov B; Finn RD; Bateman A; Szymanski M; Karlowski WM; Gorodkin J; Seemann SE; Cannone JJ; Gutell RR; Fey P; Basu S; Kay S; Cochrane G; Billis K; Emmert D; Marygold SJ; Huntley RP; Lovering RC; Frankish A; Chan PP; Lowe TM; Bruford E; Seal R; Vandesompele J; Volders PJ; Paraskevopoulou M; Ma L; Zhang Z; Griffiths-Jones S; Bujnicki JM; Boccaletto P; Blake JA; Bult CJ; Chen R; Zhao Y; Wood V; Rutherford K; Rivas E; Cole J; Laulederkind SJF; Shimoyama M; Gillespie ME; Orlic-Milacic M; Kalvari I; Nawrocki E; Engel SR; Cherry JM; Team S; Berardini TZ; Hatzigeorgiou A; Karagkouni D; Howe K; Davis P; Dinger M; He S; Yoshihama M; Kenmochi N; Stadler PF; Williams KP, 2019, 'RNAcentral: A hub of information for non-coding RNA sequences', Nucleic Acids Research, 47, pp. D221 - D229, http://dx.doi.org/10.1093/nar/gky1034

Gayevskiy V; Roscioli T; Dinger M; Cowley M, 2019, 'Seave: a comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1101/258061

Gayevskiy V; Roscioli T; Dinger ME; Cowley MJ, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540

Puttick C; Kumar K; Davis R; Pinese M; Thomas D; Dinger M; Sue C; Cowley M, 2019, 'mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data', , http://dx.doi.org/10.1101/852210

Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39

Pinese M; Lacaze P; Rath E; Stone A; Brion M-J; Ameur A; Nagpal S; Puttick C; Husson S; Degrave D; Navin Cristina T; Silva Kahl V; Statham A; Woods R; McNeil J; Riaz M; Barr M; Nelson M; Reid C; Murray A; Shah R; Wolfe R; Atkins J; Fitzsimmons C; Cairns H; Green M; Carr V; Cowley M; Pickett H; James P; Powell J; Kaplan W; Gibson G; Gyllensten U; Cairns M; McNamara M; Dinger M; Thomas D, 2018, 'The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly', bioRxiv, pp. 473348, http://dx.doi.org/10.1101/473348

Minoche AE; Horvat C; Johnson R; Gayevskiy V; Morton SU; Drew AP; Woo K; Statham AL; Lundie B; Bagnall RD; Ingles J; Semsarian C; Seidman JG; Seidman CE; Dinger ME; Cowley MJ; Fatkin D, 2018, 'Response to Brodehl et al.', Genetics in Medicine, pp. 1 - 2, http://dx.doi.org/10.1038/s41436-018-0292-1

Kumar KR; Wali G; Davis RL; Mallawaarachchi AC; Palmer EE; Gayevskiy V; Minoche AE; Veivers D; Dinger ME; Mackay-Sim A; Cowley MJ; Sue CM; Palmer E, 2018, 'Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms', Molecular Genetics and Metabolism Reports, 16, pp. 46 - 51, http://dx.doi.org/10.1016/j.ymgmr.2018.07.003

Gloss BS; Dinger ME, 2018, 'Realizing the significance of noncoding functionality in clinical genomics', Experimental and Molecular Medicine, 50, pp. 1 - 8, http://dx.doi.org/10.1038/s12276-018-0087-0

Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Ross SB; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C, 2018, 'Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy', Journal of the American College of Cardiology, 72, pp. 419 - 429, http://dx.doi.org/10.1016/j.jacc.2018.04.078

Zeraati M; Langley DB; Schofield P; Moye AL; Rouet R; Hughes WE; Bryan TM; Dinger ME; Christ D, 2018, 'I-motif DNA structures are formed in the nuclei of human cells', Nature Chemistry, 10, pp. 631 - 637, http://dx.doi.org/10.1038/s41557-018-0046-3

Lancaster GI; Langley KG; Berglund NA; Kammoun HL; Reibe S; Estevez E; Weir J; Mellett NA; Pernes G; Conway JRW; Lee MKS; Timpson P; Murphy AJ; Masters SL; Gerondakis S; Bartonicek N; Kaczorowski DC; Dinger ME; Meikle PJ; Bond PJ; Febbraio MA, 2018, 'Evidence that TLR4 Is Not a Receptor for Saturated Fatty Acids but Mediates Lipid-Induced Inflammation by Reprogramming Macrophage Metabolism', Cell Metabolism, 27, pp. 1096 - 1110.e5, http://dx.doi.org/10.1016/j.cmet.2018.03.014

Signal B; Gloss BS; Dinger ME; Mercer TR, 2018, 'Machine learning annotation of human branchpoints', Bioinformatics, 34, pp. 920 - 927, http://dx.doi.org/10.1093/bioinformatics/btx688

David D; Anand D; Araújo C; Gloss B; Fino J; Dinger M; Lindahl P; Pöyhönen M; Hannele L; Lavinha J, 2018, 'Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis', Experimental Eye Research, 168, pp. 161 - 170, http://dx.doi.org/10.1016/j.exer.2017.12.012

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Nash BM; Symes R; Goel H; Dinger ME; Bennetts B; Grigg JR; Jamieson RV, 2018, 'NMNAT1 variants cause cone and cone-rod dystrophy', European Journal of Human Genetics, 26, pp. 428 - 433, http://dx.doi.org/10.1038/s41431-017-0029-7

Deveson IW; Brunck ME; Blackburn J; Tseng E; Hon T; Clark TA; Clark MB; Crawford J; Dinger ME; Nielsen LK; Mattick JS; Mercer TR, 2018, 'Universal Alternative Splicing of Noncoding Exons', Cell Systems, 6, pp. 245 - 255.e5, http://dx.doi.org/10.1016/j.cels.2017.12.005

Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY; Palmer E, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006

Mattick JS; Dinger M; Schonrock N; Cowley M, 2018, 'Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing', Medical Journal of Australia, 209, pp. 197, http://dx.doi.org/10.5694/mja17.01176

Bartonicek N; Clark MB; Quek XC; Torpy JR; Pritchard AL; Maag JLV; Gloss BS; Crawford J; Taft RJ; Hayward NK; Montgomery GW; Mattick JS; Mercer TR; Dinger ME, 2017, 'Intergenic disease-associated regions are abundant in novel transcripts', Genome Biology, 18, pp. 241, http://dx.doi.org/10.1186/s13059-017-1363-3

Suan D; Kräutler NJ; Maag JLV; Butt D; Bourne K; Hermes JR; Avery DT; Young C; Statham A; Elliott M; Dinger ME; Basten A; Tangye SG; Brink R, 2017, 'CCR6 Defines Memory B Cell Precursors in Mouse and Human Germinal Centers, Revealing Light-Zone Location and Predominant Low Antigen Affinity', Immunity, 47, pp. 1142 - 1153.e4, http://dx.doi.org/10.1016/j.immuni.2017.11.022

Everaert C; Luypaert M; Maag JLV; Cheng QX; DInger ME; Hellemans J; Mestdagh P, 2017, 'Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data', Scientific Reports, 7, http://dx.doi.org/10.1038/s41598-017-01617-3

Zeraati M; Moye AL; Wong JWH; Perera D; Cowley MJ; Christ DU; Bryan TM; Dinger ME, 2017, 'Cancer-Associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression', Scientific Reports, 7, pp. 708, http://dx.doi.org/10.1038/s41598-017-00739-y

Gloss BS; Signal B; Cheetham SW; Gruhl F; Kaczorowski DC; Perkins AC; Dinger ME, 2017, 'High resolution temporal transcriptomics of mouse embryoid body development reveals complex expression dynamics of coding and noncoding loci', Scientific Reports, 7, http://dx.doi.org/10.1038/s41598-017-06110-5

Maag JLV; Fisher OM; Levert-Mignon A; Kaczorowski DC; Thomas ML; Hussey DJ; Watson DI; Wettstein A; Bobryshev YV; Edwards M; Dinger ME; Lord RV, 2017, 'Novel aberrations uncovered in Barrett's esophagus and esophageal adenocarcinoma using whole transcriptome sequencing', Molecular Cancer Research, 15, pp. 1558 - 1569, http://dx.doi.org/10.1158/1541-7786.MCR-17-0332

Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A; Palmer E, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088

Betts JA; Moradi Marjaneh M; Al-Ejeh F; Lim YC; Shi W; Sivakumaran H; Tropée R; Patch AM; Clark MB; Bartonicek N; Wiegmans AP; Hillman KM; Kaufmann S; Bain AL; Gloss BS; Crawford J; Kazakoff S; Wani S; Wen SW; Day B; Möller A; Cloonan N; Pearson J; Brown MA; Mercer TR; Waddell N; Khanna KK; Dray E; Dinger ME; Edwards SL; French JD, 2017, 'Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage', American Journal of Human Genetics, 101, pp. 255 - 266, http://dx.doi.org/10.1016/j.ajhg.2017.07.007

Baynam G; Broley S; Bauskis A; Pachter N; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Schofield L; Helmholz P; Palmer R; Kung S; Walker CE; Molster C; Lewis B; Mina K; Beilby J; Pathak G; Poulton C; Groza T; Zankl A; Roscioli T; Dinger ME; Mattick JS; Gahl W; Groft S; Tifft C; Taruscio D; Lasko P; Kosaki K; Wilhelm H; Melegh B; Carapetis J; Jana S; Chaney G; Johns A; Owen PW; Daly F; Weeramanthri T; Dawkins H; Goldblatt J, 2017, 'Initiating an undiagnosed diseases program in the Western Australian public health system', Orphanet Journal of Rare Diseases, 12, pp. 83, http://dx.doi.org/10.1186/s13023-017-0619-z

De Sousa SMC; McCabe MJ; Wu K; Roscioli T; Gayevskiy V; Brook K; Rawlings L; Scott HS; Thompson TJ; Earls P; Gill AJ; Cowley MJ; Dinger ME; McCormack AI, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944

Tang Y; Cheung BB; Atmadibrata B; Marshall GM; Dinger ME; Liu PY; Liu T, 2017, 'The regulatory role of long noncoding RNAs in cancer', Cancer Letters, 391, pp. 12 - 19, http://dx.doi.org/10.1016/j.canlet.2017.01.010

Maag JLV; Kaczorowski DC; Panja D; Peters TJ; Bramham CR; Wibrand K; Dinger ME, 2017, 'Widespread promoter methylation of synaptic plasticity genes in long-term potentiation in the adult brain in vivo', BMC genomics, 18, pp. 250, http://dx.doi.org/10.1186/s12864-017-3621-x

Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C, 2017, 'Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy', European Journal of Human Genetics, 25, pp. 763 - 767, http://dx.doi.org/10.1038/ejhg.2017.29

Barry G; Briggs JA; Hwang DW; Nayler SP; Fortuna PRJ; Jonkhout N; Dachet F; Maag JLV; Mestdagh P; Singh EM; Avesson L; Kaczorowski DC; Ozturk E; Jones NC; Vetter I; Arriola-Martinez L; Hu J; Franco GR; Warn VM; Gong A; Dinger ME; Rigo F; Lipovich L; Morris MJ; O'Brien TJ; Lee DS; Loeb JA; Blackshaw S; Mattick JS; Wolvetang EJ, 2017, 'The long non-coding RNA NEAT1 is responsive to neuronal activity and is associated with hyperexcitability states', Scientific Reports, 7, pp. 40127, http://dx.doi.org/10.1038/srep40127

McCabe M; Tarulli G; Laven-Law G; Matthiesson K; Meachem S; McLachlan R; Dinger M; Stanton P, 2017, 'Gonadotrophin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction', CLINICAL ENDOCRINOLOGY, 86, pp. 32 - 32, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000393453600090&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Baynam G; Bowman F; Lister K; Walker CE; Pachter N; Goldblatt J; Boycott KM; Gahl WA; Kosaki K; Adachi T; Ishii K; Mahede T; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Broley S; Schofield L; Verhoef H; Groza T; Zankl A; Robinson PN; Haendel M; Brudno M; Mattick JS; Dinger ME; Roscioli T; Cowley MJ; Olry A; Hanauer M; Alkuraya FS; Taruscio D; Posada De La Paz M; Lochmüller H; Bushby K; Thompson R; Hedley V; Lasko P; Mina K; Beilby J; Tifft C; Davis M; Laing NG; Julkowska D; Le Cam Y; Terry SF; Kaufmann P; Eerola I; Norstedt I; Rath A; Suematsu M; Groft SC; Austin CP; Draghia-Akli R; Weeramanthri TS; Molster C; Dawkins HJS, 2017, 'Improved diagnosis and care for rare diseases through implementation of precision public health framework', Advances in Experimental Medicine and Biology, 1031, pp. 55 - 94, http://dx.doi.org/10.1007/978-3-319-67144-4_4

Hoang VLT; Tom LN; Quek XC; Tan JM; Payne EJ; Lin LL; Sinnya S; Raphael AP; Lambie D; Frazer IH; Dinger ME; Soyer HP; Prow TW, 2017, 'RNA-seq reveals more consistent reference genes for gene expression studies in human non-melanoma skin cancers', PeerJ, 2017, pp. e3631, http://dx.doi.org/10.7717/peerj.3631

Petrov AI; Kay SJE; Kalvari I; Howe KL; Gray KA; Bruford EA; Kersey PJ; Cochrane G; Finn RD; Bateman A; Kozomara A; Griffiths-Jones S; Frankish A; Zwieb CW; Lau BY; Williams KP; Chan PP; Lowe TM; Cannone JJ; Gutell RR; Machnicka MA; Bujnicki JM; Yoshihama M; Kenmochi N; Chai B; Cole JR; Szymanski M; Karlowski WM; Wood V; Huala E; Berardini TZ; Zhao Y; Chen R; Zhu W; Paraskevopoulou MD; Vlachos IS; Hatzigeorgiou AG; Ma L; Zhang Z; Puetz J; Stadler PF; McDonald D; Basu S; Fey P; Engel SR; Cherry JM; Volders PJ; Mestdagh P; Wower J; Clark M; Quek XC; Dinger ME, 2017, 'RNAcentral: A comprehensive database of non-coding RNA sequences', Nucleic acids research, 45, pp. D128 - D134, http://dx.doi.org/10.1093/nar/gkw1008

Khoo TK; Yu B; Smith JA; Clarke AJ; Luk PP; Selinger CI; Mahon KL; Kraitsek S; Palme C; Boyer MJ; Dinger ME; Cowley MJ; O'Toole SA; Clark JR; Gupta R, 2017, 'Somatic mutations in salivary duct carcinoma and potential therapeutic targets', Oncotarget, 8, pp. 75893 - 75903, http://dx.doi.org/10.18632/oncotarget.18173

Khoo T; Yu B; Smith J; Clarke A; Luk P; Selinger C; Mahon K; Kraitsek S; Palme C; Boyer M; Dinger M; Cowley M; O’Toole S; Clark J; Gupta R, 2017, 'Somatic mutations in salivary duct carcinoma and potential therapeutic targets', Pathology, 49, pp. S105 - S105, http://dx.doi.org/10.1016/j.pathol.2016.12.301

Powell JE; Fung JN; Shakhbazov K; Sapkota Y; Cloonan N; Hemani G; Hillman KM; Kaufmann S; Luong HT; Bowdler L; Painter JN; Holdsworth-Carson SJ; Visscher PM; Dinger ME; Healey M; Nyholt DR; French JD; Edwards SL; Rogers PAW; Montgomery GW, 2016, 'Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339', Human Molecular Genetics, 25, pp. 5046 - 5058, http://dx.doi.org/10.1093/hmg/ddw320

Powell JE; Fung JN; Shakhbazov K; Sapkota Y; Cloonan N; Hemani G; Hillman KM; Kaufmann S; Luong HT; Bowdler L; Painter JN; Holdsworth-Carson SJ; Visscher PM; Dinger ME; Healey M; Nyholt DR; French JD; Edwards SL; Rogers PAW; Montgomery GW, 2016, 'Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339.', Hum Mol Genet, 25, pp. 5046 - 5058, http://dx.doi.org/10.1093/hmg/ddw320

Mallawaarachchi AC; Hort Y; Cowley MJ; Mccabe MJ; Minoche A; Dinger ME; Shine J; Furlong TJ, 2016, 'Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease', European Journal of Human Genetics, 24, pp. 1584 - 1590, http://dx.doi.org/10.1038/ejhg.2016.48


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