The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service
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
Published in Orphanet journal of rare diseases (11.06.2016)
Published in Orphanet journal of rare diseases (11.06.2016)
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Journal Article
Initiating an undiagnosed diseases program in the Western Australian public health system
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
Published in Orphanet journal of rare diseases (03.05.2017)
Published in Orphanet journal of rare diseases (03.05.2017)
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Journal Article
Population‐based screening for Lynch syndrome in Western Australia
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
Published in International journal of cancer (01.09.2014)
Published in International journal of cancer (01.09.2014)
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Journal Article
Heterogeneous Staining for Mismatch Repair Proteins during Population-Based Prescreening for Hereditary Nonpolyposis Colorectal Cancer
Watson, Natasha, Grieu, Fabienne, Morris, Melinda, Harvey, Jennet, Stewart, Colin, Schofield, Lyn, Goldblatt, Jack, Iacopetta, Barry
Published in The Journal of molecular diagnostics : JMD (01.09.2007)
Published in The Journal of molecular diagnostics : JMD (01.09.2007)
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Journal Article
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
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
Published in Clinical cancer research (01.06.2006)
Published in Clinical cancer research (01.06.2006)
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Journal Article
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
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
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
A Retrospective Exploration of the Impact of the ‘Angelina Jolie Effect’ on the Single State-Wide Familial Cancer Program in Perth, Western Australia
Freedman, Rebecca, Mountain, Helen, Karina, Dian, Schofield, Lyn
Published in Journal of genetic counseling (01.02.2017)
Published in Journal of genetic counseling (01.02.2017)
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Journal Article
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome
Shaw, Josephine, Bulsara, Caroline, Cohen, Paul A., Gryta, Madeleine, Nichols, Cassandra B., Schofield, Lyn, O’Sullivan, Sarah, Pachter, Nicholas, Hardcastle, Sarah J.
Published in Patient education and counseling (01.05.2018)
Published in Patient education and counseling (01.05.2018)
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Journal Article
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces
Baynam, Gareth, Overkov, Angela, Davis, Mark, Mina, Kym, Schofield, Lyn, Allcock, Richard, Laing, Nigel, Cook, Matthew, Dawkins, Hugh, Goldblatt, Jack
Published in American journal of medical genetics. Part A (01.07.2015)
Published in American journal of medical genetics. Part A (01.07.2015)
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Journal Article
Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing
Cohen, Paul A, Nichols, Cassandra B, Schofield, Lyn, Van Der Werf, Steven, Pachter, Nicholas
Published in International journal of gynecological cancer (01.06.2016)
Published in International journal of gynecological cancer (01.06.2016)
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Journal Article
Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas
Dowson, Cassandra B, Stewart, Colin, O'Sullivan, Sarah, Pachter, Nicholas, Schofield, Lyn, Cohen, Paul A
Published in International journal of gynecological cancer (01.01.2020)
Published in International journal of gynecological cancer (01.01.2020)
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Journal Article
Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry
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
Published in International journal of gynecological cancer (01.06.2021)
Published in International journal of gynecological cancer (01.06.2021)
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Journal Article
Population‐based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test
Schofield, Lyn, Watson, Natasha, Grieu, Fabienne, Li, Wei Qi, Zeps, Nik, Harvey, Jennet, Stewart, Colin, Abdo, Michael, Goldblatt, Jack, Iacopetta, Barry
Published in International journal of cancer (01.03.2009)
Published in International journal of cancer (01.03.2009)
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Journal Article
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
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.
Published in Advances in experimental medicine and biology (2017)
Published in Advances in experimental medicine and biology (2017)
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Book Chapter
Journal Article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
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
Published in Frontiers in genetics (29.07.2019)
Published in Frontiers in genetics (29.07.2019)
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Journal Article
3-Dimensional Facial Analysis-Facing Precision Public Health
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
Published in Frontiers in public health (10.04.2017)
Published in Frontiers in public health (10.04.2017)
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Journal Article