By Dr Mark Pinese

Conference Abstracts

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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