Hasil Pencarian - Nicholas Pachter

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  1. 1
    An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.

    An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C. oleh Elizabeth Algar, Vinod Dagar, Menka Sebaj, Nicholas Pachter

    Diterbitkan 2011-01-01
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  2. 2
    Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

    Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children oleh Yong Song, Hilda Higgins, Jing Guo, Katrina Harrison, En Nee Schultz, Belinda J. Hales, Eric K. Moses, Jack Goldblatt, Nicholas Pachter, Guicheng Zhang

    Diterbitkan 2018-02-01
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  3. 3
    Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol

    Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol oleh April Morrow, Emily Hogden, Yoon-Jung Kang, Julia Steinberg, Karen Canfell, Michael J. Solomon, James G. Kench, Anthony J. Gill, Tim Shaw, Nicholas Pachter, Bonny Parkinson, Luke Wolfenden, Gillian Mitchell, Finlay Macrae, Kathy Tucker, Natalie Taylor

    Diterbitkan 2019-06-01
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  4. 4
    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

    Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience oleh Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing

    Diterbitkan 2020-03-01
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  5. 5
    A flexible computational pipeline for research analyses of unsolved clinical exome cases

    A flexible computational pipeline for research analyses of unsolved clinical exome cases oleh Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell

    Diterbitkan 2020-12-01
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  6. 6
    Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals

    Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hosp... oleh Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Yoon-Jung Kang, Emily He, Rebecca Venchiarutti, Leanna Titterton, Lucien Sankey, Amy Pearn, Cassandra Nichols, Skye McKay, Anne Hayward, Natasha Egoroff, Alexander Engel, Peter Gibbs, Annabel Goodwin, Marion Harris, James G Kench, Nicholas Pachter, Bonny Parkinson, Peter Pockney, Abiramy Ragunathan, Courtney Smyth, Michael Solomon, Daniel Steffens, James Wei Tatt Toh, Marina Wallace, Karen Canfell, Anthony Gill, Finlay Macrae, Kathy Tucker, Natalie Taylor

    Diterbitkan 2022-05-01
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  7. 7
    Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

    Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing oleh Melissa C. Southey, James G. Dowty, Moeen Riaz, Jason A. Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J. Park, Bernard J. Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, Amanda Willis, April Morrow, Catherine Speechly, Rebecca Harris, Robert Sebra, Eric Schadt, Paul Lacaze, John J. McNeil, Graham G. Giles, Roger L. Milne, John L. Hopper, Tú Nguyen-Dumont

    Diterbitkan 2021-12-01
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  8. 8
    Initiating an undiagnosed diseases program in the Western Australian public health system

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

    Diterbitkan 2017-05-01
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  9. 9
    A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

    A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome oleh Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O’Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan, for the Family Cancer Clinics of Australia

    Diterbitkan 2023-04-01
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  10. 10
    Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

    Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective oleh Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang, Zanfina Ademi, Justin J Ardill, Wendy Barnett, Timothy R Bates, Lawrence J Beilin, Warrick Bishop, J Andrew Black, Alex Brown, John R Burnett, Christina A Bursill, Alison Colley, Peter M Clifton, Elif I Ekinci, Gemma A Figtree, Brett H Forge, Jacquie Garton-Smith, Dorothy F Graham, Ian Hamilton-Craig, Christian R Hamilton-Craig, Clare Heal, Charlotte M Hespe, Amanda J Hooper, Laurence G Howes, Jodie Ingles, Edward D Janus, Nadarajah Kangaharan, Anthony C Keech, Andrew B Kirke, Leonard Kritharides, Campbell V Kyle, Paul Lacaze, Stephen CH Li, Stjepana Maticevic, Brendan M McQuillan, Sam Mirzaee, Trevor A Mori, Allison C Morton, David M Colquhoun, Joanna C Moullin, Paul J Nestel, Kristen J Nowak, Richard C O'Brien, Nicholas Pachter, Michael M Page, Peter J Psaltis, Jan Radford, Nicola J Reid, Elizabeth N Robertson, Jacqueline DM Ryan, Mitchell N Sarkies, Carl J Schultz, Russell S Scott, Christopher Semsarian, Leon A Simons, Catherine Spinks, Andrew M Tonkin, Frank van Bockxmeer, Kathryn E Waddell-Smith, Natalie C Ward, Harvey D White, Andrew M Wilson, Ingrid Winship, Ann Marie Woodward, Stephen J Nicholls, Peter Brett, Luke Elias, Wynand Malan, John Irvin, Kirsten Lambert, Annette Pedrotti

    Diterbitkan 2021-06-01
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  11. 11
    A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

    A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship oleh Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, Diane Fatkin, James McNamara, Magdalena Soka, Morgan almog, Vanessa Fear, Caroline Medi, Zornitza Stark, Mohammad Al-Shinnag, Miriam Fine, Alejandro Metke, Raymond Sy, John J. Atherton, Keri Finlay, Di Milnes, Dotti Tang, Rachel Austin, Denisse Garza, Michael Milward, Jessica Taylor, Richard D. Bagnall, Eleni Giannoulatou, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Gillian M. Blue, Belinda Gray, Helen Mountain, Tina Thompson, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Eric Haan, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Tiffany Boughtwood, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Karin van Spaendonck-Zwarts, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Nicholas Pachter, Miranda Vidgen, Leslie Burnett, Georgie Hollingsworth, Chirag Patel, Jitendra Vohra, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Ari E. Horton, Matthew Perry, Mathew Wallis, Will Carr, Denise Howting, Andreas Pflaumer, Robert G. Weintraub, Sarah Casauria, Jodie Ingles, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, David Winlaw, Yuchen Chang, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Paul James, Nicola K. Poplawski, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Michael C.J. Quinn, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Kathy Cox, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Emma M. Rath, Debjani Das, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Andrew Davis, Sebastian Lunke, Mark Ryan, Paul De Fazio, Ivan Macciocca, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Evanthia O. Madelli, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Chris Semsarian, Julia Dobbins, Julia Mansour, Isabella Sherburn, Sally L. Dunwoodie, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Tessa Mattiske, Carla Smerdon, David Elliott, Julie McGaughran, Janine Smith

    Diterbitkan 2024-01-01
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