Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry
Souzeau, Emmanuelle, MSc, Burdon, Kathryn P., PhD, Dubowsky, Andrew, PhD, Grist, Scott, PhD, Usher, Bronwyn, BA, Fitzgerald, Jude T., BOrthOphthSc, BMBS, Crawford, April, BMBS, Hewitt, Alex W., MBBS, PhD, Goldberg, Ivan, FRANZCO, Mills, Richard A., PhD, FRANZCO, Ruddle, Jonathan B., FRANZCO, Landers, John, PhD, FRANZCO, Mackey, David A., MD, FRANZCO, Craig, Jamie E., DPhil, FRANZCO
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
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Journal Article
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing
Southey, Melissa C., Dowty, James G., Riaz, Moeen, Steen, Jason A., Renault, Anne-Laure, Tucker, Katherine, Kirk, Judy, James, Paul, Winship, Ingrid, Pachter, Nicholas, Poplawski, Nicola, Grist, Scott, Park, Daniel J., Pope, Bernard J., Mahmood, Khalid, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Theys, Derrick, Rewse, Amanda, Willis, Amanda, Morrow, April, Speechly, Catherine, Harris, Rebecca, Sebra, Robert, Schadt, Eric, Lacaze, Paul, McNeil, John J., Giles, Graham G., Milne, Roger L., Hopper, John L., Nguyen-Dumont, Tú
Published in NPJ breast cancer (09.12.2021)
Published in NPJ breast cancer (09.12.2021)
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Journal Article
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
Carvalho, Marcelo, Pino, Maria A, Karchin, Rachel, Beddor, Jennifer, Godinho-Netto, Martha, Mesquita, Rafael D, Rodarte, Renato S, Vaz, Danielle C, Monteiro, Viviane A, Manoukian, Siranoush, Colombo, Mara, Ripamonti, Carla B, Rosenquist, Richard, Suthers, Graeme, Borg, Ake, Radice, Paolo, Grist, Scott A, Monteiro, Alvaro N A, Billack, Blase
Published in Mutation research (15.01.2009)
Published in Mutation research (15.01.2009)
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Journal Article
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approach
TISCHKOWITZ, Marc, HAMEL, Nancy, GRIST, Scott A, FAB, Kcon, NEDERLOF, Petra M, GOLDGAR, David E, TAVTIGIAN, Sean V, MONTEIRO, Alvaro N, LADIAS, John A. A, FOULKES, William D, CARVALHO, Marcelo A, BIRRANE, Gabriel, SONI, Aditi, VAN BEERS, Erik H, JOOSSE, Simon A, WONG, Nora, NOVAK, David, QUENNEVILLE, Louise A
Published in European journal of human genetics : EJHG (01.07.2008)
Published in European journal of human genetics : EJHG (01.07.2008)
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Journal Article
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer
Chen, Celia S, Phillips, Kerry D, Grist, Scott, Bennet, Graeme, Craig, Jamie E, Muecke, James S, Suthers, Graeme K
Published in Familial cancer (01.11.2006)
Published in Familial cancer (01.11.2006)
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Journal Article
Targeting and Internalization of Liposomes by Bladder Tumor Cells Using a Fibronectin Attachment Protein-Derived Peptide–Lipopolymer Conjugate
Lee, Young, Kischuk, Erin, Crist, Scott, Ratliff, Timothy L, Thompson, David H
Published in Bioconjugate chemistry (17.05.2017)
Published in Bioconjugate chemistry (17.05.2017)
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Journal Article
Abstract PS7-04: Population-based estimates of breast cancer risk for germline pathogenic variants identified by gene-panel testing: An Australian perspective
Nguyen-Dumont, Tu, Dowty, James, Tucker, Katherine, Kirk, Judy, James, Paul, Trainer, Alison, Winship, Ingrid, Pachter, Nicholas, Poplawski, Nicola, Grist, Scott, Park, Daniel J, Renault, Anne-Laure, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Steen, Jason A, Theys, Derrick, Rewse, Amanda, Willis, Amanda, Morrow, April, Speechly, Catherine, Harris, Rebecca, Riaz, Moeen, Sebra, Robert, Schadt, Eric, Lacaze, Paul, McNeil, John, Hopper, John L, Southey, Melissa C
Published in Cancer research (Chicago, Ill.) (15.02.2021)
Published in Cancer research (Chicago, Ill.) (15.02.2021)
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Journal Article
AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less
Bain, Sharon, Fletcher, Janice M., Hall, Rachel, Grist, Scott
Published in Annals of translational medicine (01.09.2017)
Published in Annals of translational medicine (01.09.2017)
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Journal Article
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia
Brecht, Marcus, Richardson, Malcolm, Taranath, Ajay, Grist, Scott, Thorburn, David, Bratkovic, Drago
Published in JIMD Reports, Volume 19 (01.01.2015)
Published in JIMD Reports, Volume 19 (01.01.2015)
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Book Chapter
Journal Article
Molecular nature of in vivo mutations in human cells at the autosomal HLA-A locus
Morley, A A, Grist, S A, Turner, D R, Kutlaca, A, Bennett, G
Published in Cancer research (Chicago, Ill.) (01.08.1990)
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Published in Cancer research (Chicago, Ill.) (01.08.1990)
Journal Article
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
CARVALHO, Marcelo A, MARSILLAC, Sylvia M, BAUMBACH, Lisa, SUTPHEN, Rebecca, PICKARD-BRZOSOWICZ, Jennifer L, NATHANSON, Katherine L, SALI, Andrej, GOLDGAR, David, COUCH, Fergus J, RADICE, Paolo, MONTEIRO, Alvaro N. A, KARCHIN, Rachel, MANOUKIAN, Siranoush, GRIST, Scott, SWABY, Ramona F, URMENYI, Turan P, RONDINELLI, Edson, SILVA, Rosane, GAYOL, Luis
Published in Cancer research (Chicago, Ill.) (15.02.2007)
Published in Cancer research (Chicago, Ill.) (15.02.2007)
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Journal Article
OR34-6 A Novel Mechanism of SDH-Deficient Tumorigenesis and Implications for Genetic Testing in Patients with Pheochromocytoma-Paraganglioma
De Sousa, Sunita M.C., Toubia, John, Feng, Jingua, Wang, Paul, Hardy, Tristan S.E., Babic, Milena, Geoghegan, Joel, Hall, Rachel, Scott, Grist, Rawlings, Lesley, Schreiber, Andreas, Luxford, Catherine, Clifton-Bligh, Roderick, Poplawski, Nicola, Scott, Hamish, Torpy, David
Published in Journal of the Endocrine Society (30.04.2019)
Published in Journal of the Endocrine Society (30.04.2019)
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Journal Article
Platelet-mediated modulation of adaptive immunity : unique delivery of CD154 signal by platelet-derived membrane vesicles. Commentary
RATAJCZAK, Mariusz Z, SPRAGUE, Daniel L, ELZEY, Bennett D, GRIST, Scott A, WALDSCHMIDT, Thomas J, JENSEN, Robert J, RATLIFF, Timothy L
Published in Blood (2008)
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Published in Blood (2008)
Journal Article
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling
Waddell, Nic, Jonnalagadda, Jyoti, Marsh, Anna, Grist, Scott, Jenkins, Mark, Hobson, Karen, Taylor, Malcolm, Lindeman, Geoff J., Tavtigian, Sean V., Suthers, Graeme, Goldgar, David, Oefner, Peter J., Taylor, Darrin, Grimmond, Sean, Khanna, Kum Kum, Chenevix-Trench, Georgia
Published in Genes chromosomes & cancer (01.12.2006)
Published in Genes chromosomes & cancer (01.12.2006)
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Journal Article
Mitochondrial Mutations as Molecular Markers for Minimal Reidual Disease (MRD) in Acute Myeloid Leukemia
Morley, Alexander A., Grist, Scott A., Lu, Xiao J., Patsouris, Katrina
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
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Journal Article