An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C

Por Algar, Elizabeth, Dagar, Vinod, Sebaj, Menka, Pachter, Nicholas
Publicado em 2011

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

Por Ong, Royston, Edwards, Samantha, Howting, Denise, Kamien, Benjamin, Harrop, Karen, Ravenscroft, Gianina, Davis, Mark, Fietz, Michael, Pachter, Nicholas, Beilby, John, Laing, Nigel
Publicado no BMJ Open (2019)

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

Por Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Publicado no J Clin Endocrinol Metab (2015)

Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

Por Song, Yong, Higgins, Hilda, Guo, Jing, Harrison, Katrina, Schultz, En Nee, Hales, Belinda J., Moses, Eric K., Goldblatt, Jack, Pachter, Nicholas, Zhang, Guicheng
Publicado no J Transl Med (2018)

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

Por Burns, Belinda L., Bilkey, Gemma A., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, Dawkins, Hugh J. S., Weeramanthri, Tarun S., Nowak, Kristen J.
Publicado no Front Public Health (2019)

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Por Bilkey, Gemma A., Burns, Belinda L., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, J. S. Dawkins, Hugh, Nowak, Kristen J., Weeramanthri, Tarun S.
Publicado no Front Public Health (2019)

3-Dimensional Facial Analysis—Facing Precision Public Health

Por 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.
Publicado no Front Public Health (2017)

AB002. The rare and undiagnosed diseases diagnostic service

Por Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Graham, Caroline, Mina, Kym, Beilby, John, Davis, Mark, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack
Publicado no Ann Transl Med (2015)

Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol

Por Morrow, April, Hogden, Emily, Kang, Yoon-Jung, Steinberg, Julia, Canfell, Karen, Solomon, Michael J., Kench, James G., Gill, Anthony J., Shaw, Tim, Pachter, Nicholas, Parkinson, Bonny, Wolfenden, Luke, Mitchell, Gillian, Macrae, Finlay, Tucker, Kathy, Taylor, Natalie
Publicado no Trials (2019)

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes

Por Bouron-Dal Soglio, Dorothée, de Kock, Leanne, Gauci, Richard, Sabbaghian, Nelly, Thomas, Elizabeth, Atkinson, Helen C., Pachter, Nicholas, Ryan, Simon, Walsh, John P., Kumarasinghe, M. Priyanthi, Carpenter, Karen, Aydoğan, Ayça, Stewart, Colin J.R., Foulkes, William D., Choong, Catherine S.
Publicado no Eur Thyroid J (2018)

Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men

Por Killick, Emma, Morgan, Richard, Launchbury, Francesca, Bancroft, Elizabeth, Page, Elizabeth, Castro, Elena, Kote-Jarai, Zsofia, Aprikian, Armen, Blanco, Ignacio, Clowes, Virginia, Domchek, Susan, Douglas, Fiona, Eccles, Diana, Evans, D. Gareth, Harris, Marion, Kirk, Judy, Lam, Jimmy, Lindeman, Geoffrey, Mitchell, Gillian, Pachter, Nicholas, Selkirk, Christina, Tucker, Kathy, Zgajnar, Janaz, Eeles, Rosalind, Pandha, Hardev
Publicado em 2013

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Por 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
Publicado no Orphanet J Rare Dis (2016)

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Por Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., Backer, Julie De
Publicado no J Am Coll Cardiol (2018)

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de...

Por Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph
Publicado no Hum Mol Genet (2017)

Initiating an undiagnosed diseases program in the Western Australian public health system

Por 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
Publicado no Orphanet J Rare Dis (2017)

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Por Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H.
Publicado no Genome Biol (2016)

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Por Mikropoulos, Christos, Selkirk, Christina G Hutten, Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Brendler, Charles, Page, Elizabeth, Dias, Alexander, Evans, D Gareth, Rothwell, Jeanette, Maehle, Lovise, Axcrona, Karol, Richardson, Kate, Eccles, Diana, Jensen, Thomas, Osther, Palle J, van Asperen, Christi J, Vasen, Hans, Kiemeney, Lambertus A, Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Hart, Rachel, Glover, Wayne, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A, Oosterwijk, Jan C, Cook, Jackie, Rosario, Derek J, Buys, Saundra S, Conner, Tom, Domchek, Susan, Powers, Jacquelyn, Ausems, Margreet GEM, Teixeira, Manuel R, Maia, Sofia, Izatt, Louise, Schmutzler, Rita, Rhiem, Kerstin, Foulkes, William D, Boshari, Talia, Davidson, Rosemarie, Ruijs, Marielle, Helderman-van den Enden, Apollonia TJM, Andrews, Lesley, Walker, Lisa, Snape, Katie, Henderson, Alex, Jobson, Irene, Lindeman, Geoffrey J, Liljegren, Annelie, Harris, Marion, Adank, Muriel A, Kirk, Judy, Taylor, Amy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Pachter, Nicholas, Spigelman, Allan, Side, Lucy, Zgajnar, Janez, Mora, Josefina, Brewer, Carole, Gadea, Neus, Brady, Angela F, Gallagher, David, van Os, Theo, Donaldson, Alan, Stefansdottir, Vigdis, Barwell, Julian, James, Paul A, Murphy, Declan, Friedman, Eitan, Nicolai, Nicola, Greenhalgh, Lynn, Obeid, Elias, Murthy, Vedang, Copakova, Lucia, McGrath, John, Teo, Soo-Hwang, Strom, Sara, Kast, Karin, Leongamornlert, Daniel A, Chamberlain, Anthony, Pope, Jenny, Newlin, Anna C, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lubinski, Jan, Grindedal, Eli Marie, McKinley, Joanne, Shackleton, Kylie, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Tricker, Karen, Moss, Sue, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Helfand, Brian T, Eeles, Rosalind A
Publicado no Br J Cancer (2018)

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Por Mikropoulos, Christos, Hutten Selkirk, Christina G, Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Brendler, Charles, Page, Elizabeth, Dias, Alexander, Evans, D Gareth, Rothwell, Jeanette, Maehle, Lovise, Axcrona, Karol, Richardson, Kate, Eccles, Diana, Jensen, Thomas, Osther, Palle J, van Asperen, Christi J, Vasen, Hans, Kiemeney, Lambertus A, Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Hart, Rachel, Glover, Wayne, Lam, Jimmy, Taylor, Louise, Salinas, Monica, Feliubadaló, Lidia, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A, Oosterwijk, Jan C, Cook, Jackie, Rosario, Derek J, Buys, Saundra S, Conner, Tom, Domchek, Susan, Powers, Jacquelyn, Ausems, Margreet G E M, Teixeira, Manuel R, Maia, Sofia, Izatt, Louise, Schmutzler, Rita, Rhiem, Kerstin, Foulkes, William D, Boshari, Talia, Davidson, Rosemarie, Ruijs, Marielle, Helderman-van den Enden, Apollonia T J M, Andrews, Lesley, Walker, Lisa, Snape, Katie, Henderson, Alex, Jobson, Irene, Lindeman, Geoffrey J, Liljegren, Annelie, Harris, Marion, Adank, Muriel A, Kirk, Judy, Taylor, Amy, Susman, Rachel, Chen-Shtoyerman, Rakefet, Pachter, Nicholas, Spigelman, Allan, Side, Lucy, Zgajnar, Janez, Mora, Josefina, Brewer, Carole, Gadea, Neus, Brady, Angela F, Gallagher, David, van Os, Theo, Donaldson, Alan, Stefansdottir, Vigdis, Barwell, Julian, James, Paul A, Murphy, Declan, Friedman, Eitan, Nicolai, Nicola, Greenhalgh, Lynn, Obeid, Elias, Murthy, Vedang, Copakova, Lucia, McGrath, John, Teo, Soo-Hwang, Strom, Sara, Kast, Karin, Leongamornlert, Daniel A, Chamberlain, Anthony, Pope, Jenny, Newlin, Anna C, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lubinski, Jan, Grindedal, Eli Marie, McKinley, Joanne, Shackleton, Kylie, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Tricker, Karen, Moss, Sue, Kote-Jarai, Zsofia, Vickers, Andrew, Lilja, Hans, Helfand, Brian T, Eeles, Rosalind A
Publicado no Br J Cancer (2018)