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Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial.
Published in:
Journal of Personalized Medicine, 2023, v. 13, n. 7, p. 1033, doi. 10.3390/jpm13071033
By:
- Daly, Rebecca;
- Hetherington, Kate;
- Hazell, Emily;
- Wadling, Bethany R.;
- Tyrrell, Vanessa;
- Tucker, Katherine M.;
- Marshall, Glenn M.;
- Ziegler, David S.;
- Lau, Loretta M. S.;
- Trahair, Toby N.;
- O'Brien, Tracey A.;
- Collins, Kiri;
- Gifford, Andrew J.;
- Haber, Michelle;
- Pinese, Mark;
- Malkin, David;
- Cowley, Mark J.;
- Karpelowsky, Jonathan;
- Drew, Donna;
- Jacobs, Chris
Publication type:
Article
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3905, doi. 10.3390/ijms23073905
By:
- Nash, Benjamin M.;
- Ma, Alan;
- Ho, Gladys;
- Farnsworth, Elizabeth;
- Minoche, Andre E.;
- Cowley, Mark J.;
- Barnett, Christopher;
- Smith, Janine M.;
- Loi, To Ha;
- Wong, Karen;
- St Heaps, Luke;
- Wright, Dale;
- Dinger, Marcel E.;
- Bennetts, Bruce;
- Grigg, John R.;
- Jamieson, Robyn V.
Publication type:
Article
Beyond DNA sequencing: genetic kidney disorders related to altered splicing.
Published in:
Nephrology Dialysis Transplantation, 2024, v. 39, n. 7, p. 1056, doi. 10.1093/ndt/gfae022
By:
- McCarthy, Hugh J;
- Mallett, Andrew J;
- Sullivan, Patricia;
- Cowley, Mark J;
- Mallawaarachchi, Amali C
Publication type:
Article
CRUX, a platform for visualising, exploring and analysing cancer genome cohort data.
Published in:
NAR Genomics & Bioinformatics, 2024, v. 6, n. 1, p. 1, doi. 10.1093/nargab/lqae003
By:
- El-Kamand, Sam;
- Quinn, Julian M W;
- Sareen, Heena;
- Becker, Therese M;
- Wong-Erasmus, Marie;
- Cowley, Mark J
Publication type:
Article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
By:
- Rius, Rocio;
- Van Bergen, Nicole J.;
- Compton, Alison G.;
- Riley, Lisa G.;
- Kava, Maina P.;
- Balasubramaniam, Shanti;
- Amor, David J.;
- Fanjul-Fernandez, Miriam;
- Cowley, Mark J.;
- Fahey, Michael C.;
- Koenig, Mary K.;
- Enns, Gregory M.;
- Sadedin, Simon;
- Wilson, Meredith J.;
- Tan, Tiong Y.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Published in:
Cerebellum, 2019, v. 18, n. 4, p. 781, doi. 10.1007/s12311-019-01038-0
By:
- Kim, Aryun;
- Kumar, Kishore R.;
- Davis, Ryan L.;
- Mallawaarachchi, Amali C.;
- Gayevskiy, Velimir;
- Minoche, Andre E.;
- Walls, Zachary;
- Kim, Han-Joon;
- Jang, Mihee;
- Cowley, Mark J.;
- Choi, Ji-Hyun;
- Shin, Chaewon;
- Sue, Carolyn M.;
- Jeon, Beomseok
Publication type:
Article
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Published in:
Cerebellum, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s12311-018-0969-7
By:
- Kang, Ce;
- Liang, Christina;
- Ahmad, Kate E.;
- Gu, Yufan;
- Siow, Sue-Faye;
- Colebatch, James G.;
- Whyte, Scott;
- Ng, Karl;
- Cremer, Philip D.;
- Corbett, Alastair J.;
- Davis, Ryan L.;
- Roscioli, Tony;
- Cowley, Mark J.;
- Park, Jin-Sung;
- Sue, Carolyn M.;
- Kumar, Kishore R.
Publication type:
Article
Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance.
Published in:
eLife, 2018, p. 1, doi. 10.7554/eLife.32111
By:
- Fazakerley, Daniel J.;
- Chaudhuri, Rima;
- Pengyi Yang;
- Maghzal, Ghassan J.;
- Thomas, Kristen C.;
- Krycer, James R.;
- Humphrey, Sean J.;
- Parker, Benjamin L.;
- Fisher-Wellman, Kelsey H.;
- Meoli, Christopher C.;
- Hoffman, Nolan J.;
- Diskin, Ciana;
- Burchfield, James G.;
- Cowley, Mark J.;
- Kaplan, Warren;
- Modrusan, Zora;
- Kolumam, Ganesh;
- Yang, Jean Y. H.;
- Chen, Daniel L.;
- Samocha-Bonet, Dorit
Publication type:
Article
Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30395-4
By:
- Ajuyah, Pamela;
- Mayoh, Chelsea;
- Lau, Loretta M. S.;
- Barahona, Paulette;
- Wong, Marie;
- Chambers, Hazel;
- Valdes-Mora, Fatima;
- Senapati, Akanksha;
- Gifford, Andrew J.;
- D'Arcy, Colleen;
- Hansford, Jordan R.;
- Manoharan, Neevika;
- Nicholls, Wayne;
- Williams, Molly M.;
- Wood, Paul J.;
- Cowley, Mark J.;
- Tyrrell, Vanessa;
- Haber, Michelle;
- Ekert, Paul G.;
- Ziegler, David S.
Publication type:
Article
PINA v2.0: mining interactome modules.
Published in:
Nucleic Acids Research, 2012, p. D862, doi. 10.1093/nar/gkr967
By:
- Cowley, Mark J.;
- Pinese, Mark;
- Kassahn, Karin S.;
- Waddell, Nic;
- Pearson, John V.;
- Grimmond, Sean M.;
- Biankin, Andrew V.;
- Hautaniemi, Sampsa;
- Wu, Jianmin
Publication type:
Article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00841-x
By:
- Minoche, Andre E.;
- Lundie, Ben;
- Peters, Greg B.;
- Ohnesorg, Thomas;
- Pinese, Mark;
- Thomas, David M.;
- Zankl, Andreas;
- Roscioli, Tony;
- Schonrock, Nicole;
- Kummerfeld, Sarah;
- Burnett, Leslie;
- Dinger, Marcel E.;
- Cowley, Mark J.
Publication type:
Article
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2226, doi. 10.1002/ajmg.a.62755
By:
- Rudaks, Laura I.;
- Watson, Eloise;
- Oboudiyat, Carly;
- Kumar, Kishore R.;
- Sullivan, Patricia;
- Cowley, Mark J.;
- Davis, Ryan L.;
- Sue, Carolyn M.
Publication type:
Article
Normalization procedures and detection of linkage signal in genetical-genomics experiments.
Published in:
2006
By:
- Williams, Rohan B. H.;
- Cotsapas, Chris J.;
- Cowley, Mark J.;
- Chan, Eva;
- Nott, David J.;
- Little, Peter F. R.
Publication type:
Letter
Identification of Novel GH-Regulated Pathway of Lipid Metabolism in Adipose Tissue: A Gene Expression Study in Hypopituitary Men.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 7, p. 1188, doi. 10.1210/jc.2010-2679
By:
- Jing Ting Zhao;
- Cowley, Mark J.;
- Paul Lee;
- Birzniece, Vita;
- Kaplan, Warren;
- Ho, Ken K. Y.
Publication type:
Article
qpure: A Tool to Estimate Tumor Cellularity from Genome-Wide Single-Nucleotide Polymorphism Profiles.
Published in:
PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045835
By:
- Song, Sarah;
- Nones, Katia;
- Miller, David;
- Harliwong, Ivon;
- Kassahn, Karin S.;
- Pinese, Mark;
- Pajic, Marina;
- Gill, Anthony J.;
- Johns, Amber L.;
- Anderson, Matthew;
- Holmes, Oliver;
- Leonard, Conrad;
- Taylor, Darrin;
- Wood, Scott;
- Xu, Qinying;
- Newell, Felicity;
- Cowley, Mark J.;
- Wu, Jianmin;
- Wilson, Peter;
- Fink, Lynn
Publication type:
Article
Detection of Growth Hormone Doping by Gene Expression Profiling of Peripheral Blood.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 12, p. 4703, doi. 10.1210/jc.2009-1038
By:
- Mitchell, Christopher J.;
- Nelson, Anne E.;
- Cowley, Mark J.;
- Kaplan, Warren;
- Stone, Glenn;
- Sutton, Selina K.;
- Lau, Amie;
- Lee, Carol M. Y.;
- Ho, Ken K. Y.
Publication type:
Article
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00362-z
By:
- Hort, Yvonne;
- Sullivan, Patricia;
- Wedd, Laura;
- Fowles, Lindsay;
- Stevanovski, Igor;
- Deveson, Ira;
- Simons, Cas;
- Mallett, Andrew;
- Patel, Chirag;
- Furlong, Timothy;
- Cowley, Mark J.;
- Shine, John;
- Mallawaarachchi, Amali
Publication type:
Article
A Novel Orthotopic Patient-Derived Xenograft Model of Radiation-Induced Glioma Following Medulloblastoma.
Published in:
Cancers, 2020, v. 12, n. 10, p. 2937, doi. 10.3390/cancers12102937
By:
- Whitehouse, Jacqueline P.;
- Howlett, Meegan;
- Hii, Hilary;
- Mayoh, Chelsea;
- Wong, Marie;
- Barahona, Paulette;
- Ajuyah, Pamela;
- White, Christine L.;
- Buntine, Molly K.;
- Dyke, Jason M.;
- Lee, Sharon;
- Valvi, Santosh;
- Stanley, Jason;
- Andradas, Clara;
- Carline, Brooke;
- Kuchibhotla, Mani;
- Ekert, Paul G.;
- Cowley, Mark J.;
- Gottardo, Nicholas G.;
- Endersby, Raelene
Publication type:
Article
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.
Published in:
European Journal of Endocrinology, 2017, v. 176, n. 5, p. 635, doi. 10.1530/EJE-16-0944
By:
- De Sousa, Sunita M. C.;
- McCabe, Mark J.;
- Kathy Wu;
- Roscioli, Tony;
- Gayevskiy, Velimir;
- Brook, Katelyn;
- Rawlings, Lesley;
- Scott, Hamish S.;
- Thompson, Tanya J.;
- Earls, Peter;
- Gill, Anthony J.;
- Cowley, Mark J.;
- Dinger, Marcel E.;
- McCormack, Ann I.
Publication type:
Article
Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.
Published in:
NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00734-3
By:
- Staunton, Jordan;
- Ajuyah, Pamela;
- Harris, Angela;
- Mayoh, Chelsea;
- Wong, Marie;
- Rumford, Megan;
- Sullivan, Patricia J.;
- Ekert, Paul G.;
- Fuentes-Bolanos, Noemi;
- Cowley, Mark J.;
- Lau, Loretta M. S.;
- Ziegler, David S.;
- Barahona, Paulette;
- Manoharan, Neevika
Publication type:
Article
MicroRNA profiling of the pubertal mouse mammary gland identifies miR-184 as a candidate breast tumour suppressor gene.
Published in:
Breast Cancer Research, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13058-015-0593-0
By:
- Yu Wei Phua;
- Akira Nguyen;
- Roden, Daniel L.;
- Elsworth, Benjamin;
- Niantao Deng;
- Nikolic, Iva;
- Yang, Jessica;
- Mcfarland, Andrea;
- Russell, Roslin;
- Kaplan, Warren;
- Cowley, Mark J.;
- Nair, Radhika;
- Zotenko, Elena;
- O'Toole, Sandra;
- Shi-xiong Tan;
- James, David E.;
- Clark, Susan J.;
- Kouros-Mehr, Hosein;
- Swarbrick, Alexander
Publication type:
Article
MicroRNA profiling of the pubertal mouse mammary gland identifies miR-184 as a candidate breast tumour suppressor gene.
Published in:
2015
By:
- Phua, Yu Wei;
- Nguyen, Akira;
- Roden, Daniel L;
- Elsworth, Benjamin;
- Deng, Niantao;
- Nikolic, Iva;
- Yang, Jessica;
- Mcfarland, Andrea;
- Russell, Roslin;
- Kaplan, Warren;
- Cowley, Mark J;
- Nair, Radhika;
- Zotenko, Elena;
- O'Toole, Sandra;
- Tan, Shi-Xiong;
- James, David E;
- Clark, Susan J;
- Kouros-Mehr, Hosein;
- Swarbrick, Alexander
Publication type:
journal article
Cold adaptation in the marine bacterium, Sphingopyxis alaskensis, assessed using quantitative proteomics.
Published in:
Environmental Microbiology, 2010, v. 12, n. 10, p. 2658, doi. 10.1111/j.1462-2920.2010.02235.x
By:
- Ting, Lily;
- Williams, Timothy J.;
- Cowley, Mark J.;
- Lauro, Federico M.;
- Guilhaus, Michael;
- Raftery, Mark J.;
- Cavicchioli, Ricardo
Publication type:
Article
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Published in:
Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02936-7
By:
- Sullivan, Patricia J.;
- Gayevskiy, Velimir;
- Davis, Ryan L.;
- Wong, Marie;
- Mayoh, Chelsea;
- Mallawaarachchi, Amali;
- Hort, Yvonne;
- McCabe, Mark J.;
- Beecroft, Sarah;
- Jackson, Matilda R.;
- Arts, Peer;
- Dubowsky, Andrew;
- Laing, Nigel;
- Dinger, Marcel E.;
- Scott, Hamish S.;
- Oates, Emily;
- Pinese, Mark;
- Cowley, Mark J.
Publication type:
Article
Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma.
Published in:
2018
By:
- Ziegler, David S.;
- Wong, Marie;
- Mayoh, Chelsea;
- Kumar, Amit;
- Tsoli, Maria;
- Mould, Emily;
- Tyrrell, Vanessa;
- Khuong-Quang, Dong-Anh;
- Pinese, Mark;
- Gayevskiy, Velimir;
- Cohn, Richard J.;
- Lau, Loretta M. S.;
- Reynolds, Mark;
- Cox, Michael C.;
- Gifford, Andrew;
- Rodriguez, Michael;
- Cowley, Mark J.;
- Ekert, Paul G.;
- Marshall, Glenn M.;
- Haber, Michelle
Publication type:
journal article
Understanding pancreatic cancer genomes.
Published in:
Journal of Hepato -- Biliary -- Pancreatic Sciences, 2013, v. 20, n. 6, p. 549, doi. 10.1007/s00534-013-0610-6
By:
- Cowley, Mark J.;
- Chang, David K.;
- Pajic, Marina;
- Johns, Amber L.;
- Waddell, Nicola;
- Grimmond, Sean M.;
- Biankin, Andrew V.
Publication type:
Article
They Can Have Our Cake -- But Can We Eat It? Access to Raw Genomic Data under Australian Privacy Law.
Published in:
Journal of Law & Medicine, 2023, v. 30, n. 3, p. 616
By:
- Johnston, Carolyn;
- Nielsen, Jane;
- Cowley, Mark J.;
- McWhirter, Rebekah;
- Otlowski, Margaret
Publication type:
Article
Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions.
Published in:
British Journal of Cancer, 2022, v. 127, n. 5, p. 908, doi. 10.1038/s41416-022-01806-6
By:
- Venn, Nicola C.;
- Huang, Libby;
- Hovorková, Lenka;
- Muskovic, Walter;
- Wong, Marie;
- Law, Tamara;
- Heatley, Susan L.;
- Khaw, Seong Lin;
- Revesz, Tom;
- Dalla Pozza, Luciano;
- Shaw, Peter J.;
- Fraser, Chris;
- Moore, Andrew S.;
- Cross, Siobhan;
- Bendak, Katerina;
- Norris, Murray D.;
- Henderson, Michelle J.;
- White, Deborah L.;
- Cowley, Mark J.;
- Trahair, Toby N.
Publication type:
Article
Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions.
Published in:
2022
By:
- Venn, Nicola C;
- Huang, Libby;
- Hovorková, Lenka;
- Muskovic, Walter;
- Wong, Marie;
- Law, Tamara;
- Heatley, Susan L;
- Khaw, Seong Lin;
- Revesz, Tom;
- Dalla Pozza, Luciano;
- Shaw, Peter J;
- Fraser, Chris;
- Moore, Andrew S;
- Cross, Siobhan;
- Bendak, Katerina;
- Norris, Murray D;
- Henderson, Michelle J;
- White, Deborah L;
- Cowley, Mark J;
- Trahair, Toby N
Publication type:
journal article
Whole-genome sequencing facilitates patient-specific quantitative PCR-based minimal residual disease monitoring in acute lymphoblastic leukaemia, neuroblastoma and Ewing sarcoma.
Published in:
British Journal of Cancer, 2022, v. 126, n. 3, p. 482, doi. 10.1038/s41416-021-01538-z
By:
- Subhash, Vinod Vijay;
- Huang, Libby;
- Kamili, Alvin;
- Wong, Marie;
- Chen, Dan;
- Venn, Nicola C.;
- Atkinson, Caroline;
- Mayoh, Chelsea;
- Venkat, Pooja;
- Tyrrell, Vanessa;
- Marshall, Glenn M.;
- Cowley, Mark J.;
- Ekert, Paul G.;
- Norris, Murray D.;
- Haber, Michelle;
- Henderson, Michelle J.;
- Sutton, Rosemary;
- Fletcher, Jamie I.;
- Trahair, Toby N.
Publication type:
Article
Whole-genome sequencing facilitates patient-specific quantitative PCR-based minimal residual disease monitoring in acute lymphoblastic leukaemia, neuroblastoma and Ewing sarcoma.
Published in:
2022
By:
- Subhash, Vinod Vijay;
- Huang, Libby;
- Kamili, Alvin;
- Wong, Marie;
- Chen, Dan;
- Venn, Nicola C;
- Atkinson, Caroline;
- Mayoh, Chelsea;
- Venkat, Pooja;
- Tyrrell, Vanessa;
- Marshall, Glenn M;
- Cowley, Mark J;
- Ekert, Paul G;
- Norris, Murray D;
- Haber, Michelle;
- Henderson, Michelle J;
- Sutton, Rosemary;
- Fletcher, Jamie I;
- Trahair, Toby N
Publication type:
journal article
ELF5 Suppresses Estrogen Sensitivity and Underpins the Acquisition of Antiestrogen Resistance in Luminal Breast Cancer
Published in:
PLoS Biology, 2012, v. 10, n. 12, p. 1, doi. 10.1371/journal.pbio.1001461
By:
- Kalyuga, Maria;
- Gallego-Ortega, David;
- Lee, Heather J.;
- Roden, Daniel L.;
- Cowley, Mark J.;
- Caldon, C. Elizabeth;
- Stone, Andrew;
- Allerdice, Stephanie L.;
- Valdes-Mora, Fatima;
- Launchbury, Rosalind;
- Statham, Aaron L.;
- Armstrong, Nicola;
- Alles, M. Chehani;
- Young, Adelaide;
- Egger, Andrea;
- Au, Wendy;
- Piggin, Catherine L.;
- Evans, Cara J.;
- Ledger, Anita;
- Brummer, Tilman
Publication type:
Article
Intra- and inter-individual genetic differences in gene expression.
Published in:
Mammalian Genome, 2009, v. 20, n. 5, p. 281, doi. 10.1007/s00335-009-9181-x
By:
- Cowley, Mark J.;
- Cotsapas, Chris J.;
- Williams, Rohan B. H.;
- Chan, Eva K. F.;
- Pulvers, Jeremy N.;
- Liu, Michael Y.;
- Luo, Oscar J.;
- Nott, David J.;
- Little, Peter F. R.
Publication type:
Article
Genetic dissection of gene regulation in multiple mouse tissues.
Published in:
Mammalian Genome, 2006, v. 17, n. 6, p. 490, doi. 10.1007/s00335-005-0186-9
By:
- Cotsapas, Chris J.;
- Williams, Rohan B. H.;
- Pulvers, Jeremy N.;
- Nott, David J.;
- Chan, Eva K. F.;
- Cowley, Mark J.;
- Little, Peter F. R.
Publication type:
Article
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
Published in:
Nature, 2012, v. 491, n. 7424, p. 399, doi. 10.1038/nature11547
By:
- Biankin, Andrew V.;
- Waddell, Nicola;
- Kassahn, Karin S.;
- Gingras, Marie-Claude;
- Muthuswamy, Lakshmi B.;
- Johns, Amber L.;
- Miller, David K.;
- Wilson, Peter J.;
- Patch, Ann-Marie;
- Wu, Jianmin;
- Chang, David K.;
- Cowley, Mark J.;
- Gardiner, Brooke B.;
- Song, Sarah;
- Harliwong, Ivon;
- Idrisoglu, Senel;
- Nourse, Craig;
- Nourbakhsh, Ehsan;
- Manning, Suzanne;
- Wani, Shivangi
Publication type:
Article
Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor.
Published in:
NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00145-8
By:
- Nagabushan, Sumanth;
- Lau, Loretta M. S.;
- Barahona, Paulette;
- Wong, Marie;
- Sherstyuk, Alexandra;
- Marshall, Glenn M.;
- Tyrrell, Vanessa;
- Wegner, Eva A.;
- Ekert, Paul G.;
- Cowley, Mark J.;
- Mayoh, Chelsea;
- Trahair, Toby N.;
- Crowe, Philip;
- Anazodo, Antoinette;
- Ziegler, David S.
Publication type:
Article
Clinical and pathologic features of familial pancreatic cancer.
Published in:
Cancer (0008543X), 2014, v. 120, n. 23, p. 3669, doi. 10.1002/cncr.28863
By:
- Humphris, Jeremy L.;
- Johns, Amber L.;
- Simpson, Skye H.;
- Cowley, Mark J.;
- Pajic, Marina;
- Chang, David K.;
- Nagrial, Adnan M.;
- Chin, Venessa T.;
- Chantrill, Lorraine A.;
- Pinese, Mark;
- Mead, R. Scott;
- Gill, Anthony J.;
- Samra, Jaswinder S.;
- Kench, James G.;
- Musgrove, Elizabeth A.;
- Tucker, Katherine M.;
- Spigelman, Allan D.;
- Waddell, Nic;
- Grimmond, Sean M.;
- Biankin, Andrew V.
Publication type:
Article
A Sustained Dietary Change Increases Epigenetic Variation in Isogenic Mice.
Published in:
PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1001380
By:
- Li, Cheryl C. Y.;
- Cropley, Jennifer E.;
- Cowley, Mark J.;
- Preiss, Thomas;
- Martin, David I. K.;
- Suter, Catherine M.
Publication type:
Article
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1970, doi. 10.1002/humu.24453
By:
- Rius, Rocio;
- Bennett, Neal K.;
- Bhattacharya, Kaustuv;
- Riley, Lisa G.;
- Yüksel, Zafer;
- Formosa, Luke E.;
- Compton, Alison G.;
- Dale, Russell C.;
- Cowley, Mark J.;
- Gayevskiy, Velimir;
- Al Tala, Saeed M.;
- Almehery, Abdulrahman A.;
- Ryan, Michael T.;
- Thorburn, David R.;
- Nakamura, Ken;
- Christodoulou, John
Publication type:
Article
Genome sequencing in congenital cataracts improves diagnostic yield.
Published in:
Human Mutation, 2021, v. 42, n. 9, p. 1173, doi. 10.1002/humu.24240
By:
- Ma, Alan;
- Grigg, John R.;
- Flaherty, Maree;
- Smith, James;
- Minoche, Andre E.;
- Cowley, Mark J.;
- Nash, Benjamin M.;
- Ho, Gladys;
- Gayagay, Thet;
- Lai, Tiffany;
- Farnsworth, Elizabeth;
- Hackett, Emma L.;
- Slater, Katrina;
- Wong, Karen;
- Holman, Katherine J.;
- Jenkins, Gemma;
- Cheng, Anson;
- Martin, Frank;
- Brown, Natasha J.;
- Leighton, Sarah E.
Publication type:
Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
Published in:
Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
By:
- Field, Michael J.;
- Kumar, Raman;
- Hackett, Anna;
- Kayumi, Sayaka;
- Shoubridge, Cheryl A.;
- Ewans, Lisa J.;
- Ivancevic, Atma M.;
- Dudding‐Byth, Tracy;
- Carroll, Renée;
- Kroes, Thessa;
- Gardner, Alison E.;
- Sullivan, Patricia;
- Ha, Thuong T.;
- Schwartz, Charles E.;
- Cowley, Mark J.;
- Dinger, Marcel E.;
- Palmer, Elizabeth E.;
- Christie, Louise;
- Shaw, Marie;
- Roscioli, Tony
Publication type:
Article
Cover, Volume 41, Issue 10.
Published in:
Human Mutation, 2020, v. 41, n. 10, p. i, doi. 10.1002/humu.24115
By:
- Kaur, Simranpreet;
- Van Bergen, Nicole J.;
- Verhey, Kristen J.;
- Nowell, Cameron J.;
- Budaitis, Breane;
- Yue, Yang;
- Ellaway, Carolyn;
- Brunetti‐Pierri, Nicola;
- Cappuccio, Gerarda;
- Bruno, Irene;
- Boyle, Lia;
- Nigro, Vincenzo;
- Torella, Annalaura;
- Roscioli, Tony;
- Cowley, Mark J.;
- Massey, Sean;
- Sonawane, Rhea;
- Burton, Matthew D.;
- Schonewolf‐Greulich, Bitten;
- Tümer, Zeynep
Publication type:
Article
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Published in:
Human Mutation, 2020, v. 41, n. 10, p. 1761, doi. 10.1002/humu.24079
By:
- Kaur, Simranpreet;
- Van Bergen, Nicole J.;
- Verhey, Kristen J.;
- Nowell, Cameron J.;
- Budaitis, Breane;
- Yue, Yang;
- Ellaway, Carolyn;
- Brunetti‐Pierri, Nicola;
- Cappuccio, Gerarda;
- Bruno, Irene;
- Boyle, Lia;
- Nigro, Vincenzo;
- Torella, Annalaura;
- Roscioli, Tony;
- Cowley, Mark J.;
- Massey, Sean;
- Sonawane, Rhea;
- Burton, Matthew D.;
- Schonewolf‐Greulich, Bitten;
- Tümer, Zeynep
Publication type:
Article
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 374, doi. 10.1002/humu.23699
By:
- Cowley, Mark J;
- Liu, Yu‐Chi;
- Oliver, Karen L.;
- Carvill, Gemma;
- Myers, Candace T.;
- Gayevskiy, Velimir;
- Delatycki, Martin;
- Vlaskamp, Danique R.M.;
- Zhu, Ying;
- Mefford, Heather;
- Buckley, Michael F.;
- Bahlo, Melanie;
- Scheffer, Ingrid E.;
- Dinger, Marcel E.;
- Roscioli, Tony
Publication type:
Article
In vivo loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma.
Published in:
Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2023.1123492
By:
- Whitehouse, Jacqueline P.;
- Hii, Hilary;
- Mayoh, Chelsea;
- Wong, Marie;
- Ajuyah, Pamela;
- Barahona, Paulette;
- Cui, Louise;
- Dholaria, Hetal;
- White, Christine L.;
- Buntine, Molly K.;
- Byrne, Jacob;
- da Silva, Keteryne Rodrigues;
- Howlett, Meegan;
- Girard, Emily J.;
- Tsoli, Maria;
- Ziegler, David S.;
- Dyke, Jason M.;
- Lee, Sharon;
- Ekert, Paul G.;
- Cowley, Mark J.
Publication type:
Article
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Published in:
Genes, 2021, v. 12, n. 4, p. 607, doi. 10.3390/genes12040607
By:
- Rius, Rocio;
- Compton, Alison G.;
- Baker, Naomi L.;
- Welch, AnneMarie E.;
- Coman, David;
- Kava, Maina P.;
- Minoche, Andre E.;
- Cowley, Mark J.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article
Clinical and molecular characterization of HER2 amplified-pancreatic cancer.
Published in:
Genome Medicine, 2013, v. 5, n. 8, p. 1, doi. 10.1186/gm482
By:
- Chou, Angela;
- Waddell, Nicola;
- Cowley, Mark J.;
- Gill, Anthony J.;
- Chang, David K.;
- Patch, Ann-Marie;
- Nones, Katia;
- Wu, Jianmin;
- Pinese, Mark;
- Johns, Amber L.;
- Miller, David K.;
- Kassahn, Karin S.;
- Nagrial, Adnan M.;
- Wasan, Harpreet;
- Goldstein, David;
- Toon, Christopher W.;
- Chin, Venessa;
- Chantrill, Lorraine;
- Humphris, Jeremy;
- Scott Mead, R.
Publication type:
Article
Parents' expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial.
Published in:
Cancer (0008543X), 2023, v. 129, n. 22, p. 3620, doi. 10.1002/cncr.34917
By:
- McGill, Brittany C.;
- Wakefield, Claire E.;
- Tucker, Katherine M.;
- Daly, Rebecca A.;
- Donoghoe, Mark W.;
- Vetsch, Janine;
- Warby, Meera;
- Fuentes‐Bolanos, Noemi A.;
- Barlow‐Stewart, Kristine;
- Kirk, Judy;
- Courtney, Eliza;
- O'Brien, Tracey A.;
- Marshall, Glenn M.;
- Pinese, Mark;
- Cowley, Mark J.;
- Tyrrell, Vanessa;
- Deyell, Rebecca J.;
- Ziegler, David S.;
- Hetherington, Kate
Publication type:
Article
Rascall: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).
Published in:
PLoS Genetics, 2022, v. 18, n. 10, p. 1, doi. 10.1371/journal.pgen.1010300
By:
- Rehn, Jacqueline;
- Mayoh, Chelsea;
- Heatley, Susan L;
- McClure, Barbara J;
- Eadie, Laura N;
- Schutz, Caitlin;
- Yeung, David T;
- Cowley, Mark J;
- Breen, James;
- White, Deborah L
Publication type:
Article
Seave: a comprehensive web platform for storing and interrogating human genomic variation.
Published in:
Bioinformatics, 2019, v. 35, n. 1, p. 122, doi. 10.1093/bioinformatics/bty540
By:
- Gayevskiy, Velimir;
- Roscioli, Tony;
- Dinger, Marcel E;
- Cowley, Mark J
Publication type:
Article

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