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Initiating an undiagnosed diseases program in the Western Australian public health system.
Published in:
2017
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
Publication type:
journal article
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Published in:
2016
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
Publication type:
journal article
Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol.
Published in:
2019
By:
- 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
Publication type:
journal article
NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.
Published in:
2015
By:
- Novoselova, Tatiana V;
- Rath, Shoshana R;
- Carpenter, Karen;
- Pachter, Nicholas;
- Dickinson, Jan E;
- Price, Glynis;
- Chan, Li F;
- Choong, Catherine S;
- Metherell, Louise A
Publication type:
journal article
Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers.
Published in:
Asia Pacific Journal of Clinical Oncology, 2018, v. 14, n. 6, p. 417, doi. 10.1111/ajco.13076
By:
- Mascarenhas, Lyon;
- Shanley, Susan;
- Mitchell, Gillian;
- Spurdle, Amanda B.;
- Macrae, Finlay;
- Pachter, Nicholas;
- Buchanan, Daniel D.;
- Ward, Robyn L.;
- Fox, Stephen;
- Duxbury, Elaine;
- Driessen, Rebecca;
- Boussioutas, Alex
Publication type:
Article
An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C.
Published in:
PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029034
By:
- Algar, Elizabeth;
- Dagar, Vinod;
- Sebaj, Menka;
- Pachter, Nicholas
Publication type:
Article
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Published in:
NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00360-3
By:
- 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
Publication type:
Article
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00161-w
By:
- Lassmann, Timo;
- Francis, Richard W.;
- Weeks, Alexia;
- Tang, Dave;
- Jamieson, Sarra E.;
- Broley, Stephanie;
- Dawkins, Hugh J. S.;
- Dreyer, Lauren;
- Goldblatt, Jack;
- Groza, Tudor;
- Kamien, Benjamin;
- Kiraly-Borri, Cathy;
- McKenzie, Fiona;
- Murphy, Lesley;
- Pachter, Nicholas;
- Pathak, Gargi;
- Poulton, Cathryn;
- Samanek, Amanda;
- Skoss, Rachel;
- Slee, Jennie
Publication type:
Article
Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.
Published in:
2018
By:
- Song, Yong;
- Higgins, Hilda;
- Guo, Jing;
- Harrison, Katrina;
- Schultz, En Nee;
- Hales, Belinda J.;
- Moses, Eric K.;
- Goldblatt, Jack;
- Pachter, Nicholas;
- Zhang, Guicheng
Publication type:
journal article
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 3, p. 353, doi. 10.1002/acn3.51002
By:
- Beecroft, Sarah J.;
- Yau, Kyle S.;
- Allcock, Richard J. N.;
- Mina, Kym;
- Gooding, Rebecca;
- Faiz, Fathimath;
- Atkinson, Vanessa J.;
- Wise, Cheryl;
- Sivadorai, Padma;
- Trajanoski, Daniel;
- Kresoje, Nina;
- Ong, Royston;
- Duff, Rachael M.;
- Cabrera‐Serrano, Macarena;
- Nowak, Kristen J.;
- Pachter, Nicholas;
- Ravenscroft, Gianina;
- Lamont, Phillipa J.;
- Davis, Mark R.;
- Laing, Nigel G.
Publication type:
Article
Peritumoral granulomatous reaction in endometrial carcinoma: association with DNA mismatch repair protein deficiency, particularly loss of PMS2 expression.
Published in:
Histopathology, 2018, v. 73, n. 3, p. 428, doi. 10.1111/his.13641
By:
- Stewart, Colin J. R.;
- Pearn, Amy;
- Pachter, Nicholas;
- Tan, Adeline
Publication type:
Article
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 24, p. 4849, doi. 10.1093/hmg/ddx363
By:
- 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
Publication type:
Article
Population-based screening for Lynch syndrome in Western Australia.
Published in:
International Journal of Cancer, 2014, v. 135, n. 5, p. 1085, doi. 10.1002/ijc.28744
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
Publication type:
Article
Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.
Published in:
Scientific Reports, 2013, p. 1, doi. 10.1038/srep02059
By:
- 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;
- Gareth Evans, D.;
- Harris, Marion;
- Kirk, Judy;
- Lam, Jimmy;
- Lindeman, Geoffrey;
- Mitchell, Gillian;
- Pachter, Nicholas
Publication type:
Article

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