Search Results - "Schofield, Lyn"

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service by Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, Caroline E, Molster, Caron, Blackwell, Jenefer M, Jamieson, Sarra, Tang, Dave, Lassmann, Timo, Mina, Kym, Beilby, John, Davis, Mark, Laing, Nigel, Murphy, Lesley, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

“…The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government…”
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Initiating an undiagnosed diseases program in the Western Australian public health system by Baynam, Gareth, Broley, Stephanie, Bauskis, Alicia, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Schofield, Lyn, Helmholz, Petra, Palmer, Richard, Kung, Stefanie, Walker, Caroline E, Molster, Caron, Lewis, Barry, Mina, Kym, Beilby, John, Pathak, Gargi, Poulton, Cathryn, Groza, Tudor, Zankl, Andreas, Roscioli, Tony, Dinger, Marcel E, Mattick, John S, Gahl, William, Groft, Stephen, Tifft, Cynthia, Taruscio, Domenica, Lasko, Paul, Kosaki, Kenjiro, Wilhelm, Helene, Melegh, Bela, Carapetis, Jonathan, Jana, Sayanta, Chaney, Gervase, Johns, Allison, Owen, Peter Wynn, Daly, Frank, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

“…New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines,…”
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Population‐based screening for Lynch syndrome in Western Australia by Schofield, Lyn, Grieu, Fabienne, Amanuel, Benhur, Carrello, Amerigo, Spagnolo, Dominic, Kiraly, Cathy, Pachter, Nicholas, Goldblatt, Jack, Platell, Cameron, Levitt, Michael, Stewart, Colin, Salama, Paul, Ee, Hooi, Raftopoulous, Spiro, Katris, Paul, Threlfall, Tim, Edkins, Edward, Wallace, Marina, Iacopetta, Barry

“…We showed earlier that routine screening for microsatellite instability (MSI) and loss of mismatch repair (MMR) protein expression in colorectal cancer (CRC)…”
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Heterogeneous Staining for Mismatch Repair Proteins during Population-Based Prescreening for Hereditary Nonpolyposis Colorectal Cancer by Watson, Natasha, Grieu, Fabienne, Morris, Melinda, Harvey, Jennet, Stewart, Colin, Schofield, Lyn, Goldblatt, Jack, Iacopetta, Barry

“…The aim of this study was to determine the frequency of microsatellite instability (MSI+ ) in tumors from a population-based series of young colorectal cancer…”
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Germ Line Mutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study by PARK, Jae-Gahb, KIM, Duck-Woo, BROWN, Gregor J, BURN, John, CHOW, Elizabeth, CONRAD, Peggy, DOUGLAS, Fiona, DUNLOP, Malcolm, FORD, James, GREENBLATT, Marc S, HEIKKI, Jarvinen, HEINIMANN, Karl, HONG, Changwon, LYNCH, Elly L, MACRAE, Finlay, MCKINNON, Wendy C, MÖESLEIN, Gabriela, MAURO ROSSI, Benedito, ROZEN, Paul, SCHOFIELD, Lyn, VACCARO, Carlos, VASEN, Hans, VELTHUIZEN, Mary, NAM, Byung-Ho, VIEL, Alessandra, WIJNEN, Juul, SHIN, Young-Kyoung, HONG, Sung-Hye, KIM, Il-Jin, LIM, Seok-Byung, ARONSON, Melyssa, BISGAARD, Marie Luise

“…Purpose: The aim of study was to determine the clinical characteristics and mutational profiles of the mismatch repair genes in hereditary nonpolyposis…”
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Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals by Vora, Bhavya Bhupen, Mountain, Helen, Nichols, Cassandra, Schofield, Lyn

“…The issue of recontacting past genetics patients is increasingly relevant, particularly with the introduction of next-generation sequencing. Improved testing…”
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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant by Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R.M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex, Jeanjean, Marie, Chong, George, Fabre, Aurélie, Olschwang, Sylviane, Faulkner, Geoffrey J., Bellos, Evangelos, Coin, Lachlan, Rioux, Kevin, Bathe, Oliver F., Wen, Xiaogang, Martin, Hilary C., Neklason, Deborah W., Davis, Sean R., Walker, Robert L., Calzone, Kathleen A., Avital, Itzhak, Heller, Theo, Koh, Christopher, Pineda, Marbin, Rudloff, Udo, Quezado, Martha, Pichurin, Pavel N., Hulick, Peter J., Weissman, Scott M., Newlin, Anna, Rubinstein, Wendy S., Sampson, Jone E., Hamman, Kelly, Goldgar, David, Poplawski, Nicola, Phillips, Kerry, Schofield, Lyn, Armstrong, Jacqueline, Kiraly-Borri, Cathy, Suthers, Graeme K., Huntsman, David G., Foulkes, William D., Carneiro, Fatima, Lindor, Noralane M., Edwards, Stacey L., French, Juliet D., Waddell, Nicola, Meltzer, Paul S., Worthley, Daniel L., Schrader, Kasmintan A., Chenevix-Trench, Georgia

“…Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of…”
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A Retrospective Exploration of the Impact of the ‘Angelina Jolie Effect’ on the Single State-Wide Familial Cancer Program in Perth, Western Australia by Freedman, Rebecca, Mountain, Helen, Karina, Dian, Schofield, Lyn

“…Global media has the power to influence the ways the public engage with health services. On May 14th 2013, Angelina Jolie published an article in the New York…”
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Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome by Shaw, Josephine, Bulsara, Caroline, Cohen, Paul A., Gryta, Madeleine, Nichols, Cassandra B., Schofield, Lyn, O’Sullivan, Sarah, Pachter, Nicholas, Hardcastle, Sarah J.

“…•A qualitative study of why gynecologic cancer patients decline genetic testing.•Themes identified included lack of importance and level of information…”
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A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces by Baynam, Gareth, Overkov, Angela, Davis, Mark, Mina, Kym, Schofield, Lyn, Allcock, Richard, Laing, Nigel, Cook, Matthew, Dawkins, Hugh, Goldblatt, Jack

“…We report on three Aboriginal Australian siblings with a unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including…”
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Uptake of testing for germline BRCA mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods by Stearnes, Grace, Nichols, Cassandra B, Schofield, Lyn, O'Sullivan, Sarah, Pachter, Nicholas, Cohen, Paul A

“…Patients with non-mucinous epithelial tubo-ovarian cancers should be referred for genetic testing because approximately 15% will carry an inherited mutation in…”
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Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing by Cohen, Paul A, Nichols, Cassandra B, Schofield, Lyn, Van Der Werf, Steven, Pachter, Nicholas

“…The objectives of this work were to determine the proportion of eligible patients with ovarian cancer discussed at a gynecologic oncology tumor board who were…”
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Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas by Dowson, Cassandra B, Stewart, Colin, O'Sullivan, Sarah, Pachter, Nicholas, Schofield, Lyn, Cohen, Paul A

“…To compare the germline and mutation ( ) status in women with high-grade serous tubo-ovarian and primary peritoneal carcinoma with and without serous tubal…”
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Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry by Gupta, Surabhi, Nichols, Cassandra B, Phillips, Jessica, O'Sullivan, Sarah, Ayres, Chloe, Mohan, Ganendra Raj, Leung, Yee, Stewart, Colin J R, Tan, Adeline, Schofield, Lyn, Salfinger, Stuart G, Kiraly-Borri, Catherine, Pachter, Nicholas, Cohen, Paul A

“…In 2016 universal screening with mismatch repair protein immunohistochemistry in all newly diagnosed endometrial carcinomas was introduced in Western…”
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Population‐based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test by Schofield, Lyn, Watson, Natasha, Grieu, Fabienne, Li, Wei Qi, Zeps, Nik, Harvey, Jennet, Stewart, Colin, Abdo, Michael, Goldblatt, Jack, Iacopetta, Barry

“…Approximately 1–2% of colorectal cancers (CRC) arise because of germline mutations in DNA mismatch repair genes, referred to as Lynch syndrome. These tumours…”
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A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours by Schofield, Lyn, Grieu, Fabienne, Goldblatt, Jack, Amanuel, Benhur, Iacopetta, Barry

“…We have previously established in a large retrospective study that testing for microsatellite instability (MSI) in colorectal cancer (CRC) from patients aged…”
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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework by Baynam, Gareth, Bowman, Faye, Lister, Karla, Walker, Caroline E, Pachter, Nicholas, Goldblatt, Jack, Boycott, Kym M, Gahl, William A, Kosaki, Kenjiro, Adachi, Takeya, Ishii, Ken, Mahede, Trinity, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Groza, Tudor, Zankl, Andreas, Robinson, Peter N, Haendel, Melissa, Brudno, Michael, Mattick, John S, Dinger, Marcel E, Roscioli, Tony, Cowley, Mark J, Olry, Annie, Hanauer, Marc, Alkuraya, Fowzan S, Taruscio, Domenica, Posada de la Paz, Manuel, Lochmüller, Hanns, Bushby, Kate, Thompson, Rachel, Hedley, Victoria, Lasko, Paul, Mina, Kym, Beilby, John, Tifft, Cynthia, Davis, Mark, Laing, Nigel G, Julkowska, Daria, Le Cam, Yann, Terry, Sharon F, Kaufmann, Petra, Eerola, Iiro, Norstedt, Irene, Rath, Ana, Suematsu, Makoto, Groft, Stephen C, Austin, Christopher P, Draghia-Akli, Ruxandra, Weeramanthri, Tarun S, Molster, Caron, Dawkins, Hugh J S

“…Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public…”
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Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation by Baynam, Gareth, Goldblatt, Jack, Schofield, Lyn

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative by Nellåker, Christoffer, Alkuraya, Fowzan S, Baynam, Gareth, Bernier, Raphael A, Bernier, Francois P J, Boulanger, Vanessa, Brudno, Michael, Brunner, Han G, Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J S, deVries, Bert B A, Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E, Ferlaino, Michael, Fieggen, Karen, Firth, Helen V, FitzPatrick, David R, Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J, Lyonnet, Stanislas, Marcadier, Julien L, Meyn, Stephen, Moslerová, Veronika, Politei, Juan M, Poulton, Cathryn C, Raymond, F Lucy, Reijnders, Margot R F, Robinson, Peter N, Romano, Corrado, Rose, Catherine M, Sainsbury, David C G, Schofield, Lyn, Sutton, Vernon R, Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O M

“…The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be…”
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3-Dimensional Facial Analysis-Facing Precision Public Health by Baynam, Gareth, Bauskis, Alicia, Pachter, Nicholas, Schofield, Lyn, Verhoef, Hedwig, Palmer, Richard L, Kung, Stefanie, Helmholz, Petra, Ridout, Michael, Walker, Caroline E, Hawkins, Anne, Goldblatt, Jack, Weeramanthri, Tarun S, Dawkins, Hugh J S, Molster, Caron M

“…Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population…”
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