The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients
Gleeson, M., Kentwell, M., Meiser, B., Do, J., Nevin, S., Taylor, N., Barlow-Stewart, K., Kirk, J., James, P., Scott, C.L., Williams, R., Gamet, K., Burke, J., Murphy, M., Antill, Y.C., Pearn, A., Pachter, N., Ebzery, C., Poplawski, N., Friedlander, M., Tucker, K.M.
Published in Gynecologic oncology (01.08.2020)
Published in Gynecologic oncology (01.08.2020)
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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea
Poulton, C., Pathak, G., Mina, K., Lassman, T., Azmanov, D.N., McCormack, E., Broley, S., Dreyer, L., Gration, D., Taylor, E., OSullivan, M., Siafarikis, A., Ravikumara, M., Dawkins, H., Pachter, N., Baynam, G.
Published in Gene (30.05.2019)
Published in Gene (30.05.2019)
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Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics
Meiser, B., Kaur, R., Kirk, J., Morrow, A., Peate, M., Wong, W. K. T., McPike, E., Cops, E., Dowson, C., Austin, R., Fine, M., Thrupp, L., Ward, R., Macrae, F., Hiller, J. E., Trainer, A. H., Mitchell, G.
Published in Familial cancer (01.10.2020)
Published in Familial cancer (01.10.2020)
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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
Bruno, D L, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, R J M, Hunter, M, James, P A, Kannu, P, McGillivray, G, Pachter, N, Peters, H, Rieubland, C, Savarirayan, R, Scheffer, I E, Sheffield, L, Tan, T, White, S M, Yeung, A, Bowman, Z, Ngo, C, Choy, K W, Cacheux, V, Wong, L, Amor, D J, Slater, H R
Published in Journal of medical genetics (01.02.2009)
Published in Journal of medical genetics (01.02.2009)
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Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice
Meiser, Bettina, Kaur, Rajneesh, Morrow, April, Peate, Michelle, Wong, W K Tim, McPike, Emily, Cops, Elisa, Nichols, Cassandra, Austin, Rachel, Fine, Miriam, Thrupp, Letitia, Ward, Robyn, Macrae, Finlay, Hiller, Janet E, Trainer, Alison H, Mitchell, Gillian
Published in Hereditary cancer in clinical practice (09.04.2021)
Published in Hereditary cancer in clinical practice (09.04.2021)
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The weighted intruder path covering problem
Haywood, Adam B., Lunday, Brian J., Robbins, Matthew J., Pachter, Meir N.
Published in European journal of operational research (16.02.2022)
Published in European journal of operational research (16.02.2022)
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Development and Outcomes of a Multidisciplinary Inherited Cardiac Clinic in Western Australia
Greer, C., Stackpoole, E., Mountain, H., Shah, A., D'Souza, R., Pachter, N., Pater, V.
Published in Heart, lung & circulation (01.07.2024)
Published in Heart, lung & circulation (01.07.2024)
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Identification of candidate congenital heart defects biomarkers by applying a random forest approach on DNA methylation data
Yu, K., Lee, K.H., Afrifa-Yamoah, E., Guo, J., Pachter, N., Harrison, K., Goldblatt, J., Xiao, J., Zhang, G.
Published in Atherosclerosis (01.08.2021)
Published in Atherosclerosis (01.08.2021)
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O009 Keep The Chin Up: Evidence-based standardised care pathway for infants with Pierre Robin Sequence (PRS)
Goel, D, Wilson, A, O'Donnell, A, Rao, S, Herbert, H, Pachter, N, Hamden, B, Gillett, D
Published in Sleep advances. (09.11.2022)
Published in Sleep advances. (09.11.2022)
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A call for global action for rare diseases in Africa
Baynam, Gareth S., Groft, Stephen, van der Westhuizen, Francois H., Gassman, Safiyya D., du Plessis, Kelly, Coles, Emily P., Selebatso, Eda, Selebatso, Moses, Gaobinelwe, Boikobo, Selebatso, Tebogo, Joel, Dipesalema, Llera, Virginia A., Vorster, Barend C., Wuebbels, Barbara, Djoudalbaye, Benjamin, Austin, Christopher P., Kumuthini, Judit, Forman, John, Kaufmann, Petra, Chipeta, James, Gavhed, Désirée, Larsson, Annika, Stojiljkovic, Maja, Nordgren, Ann, Roldan, Emilio J. A., Taruscio, Domenica, Wong-Rieger, Durhane, Nowak, Kristen, Bilkey, Gemma A., Easteal, Simon, Bowdin, Sarah, Reichardt, Juergen K. V., Beltran, Sergi, Kosaki, Kenjiro, van Karnebeek, Clara D. M., Gong, Mengchun, Shuyang, Zhang, Mehrian-Shai, Ruty, Adams, David R., Puri, Ratna D., Zhang, Feng, Pachter, Nicholas, Muenke, Maximilian, Nellaker, Christoffer, Gahl, William A., Cederroth, Helene, Broley, Stephanie, Schoonen, Maryke, Boycott, Kym M., Posada, Manuel
Published in Nature genetics (01.01.2020)
Published in Nature genetics (01.01.2020)
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HIGHLIGHTS ACROSS MYOLOGY: O.16 Results of a preconception carrier screening trial including severe neuromuscular disorders
Edwards, S., Ong, R., Davis, M., Allcock, R., Androga, G., Kamien, B., Harrop, K., Ravenscroft, G., Fietz, M., Pachter, N., Beilby, J., Laing, N.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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HIGHLIGHTS ACROSS MYOLOGY
Edwards, S., Ong, R., Davis, M., Allcock, R., Androga, G., Kamien, B., Harrop, K., Ravenscroft, G., Fietz, M., Pachter, N., Beilby, J., Laing, N.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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A Case of Vascular Ehlers-Danlos Syndrome Presenting as a Non–Compaction Cardiomyopathy
Lan, N., Fietz, M., Pachter, N., Paul, V., Playford, D.
Published in Heart, lung & circulation (2018)
Published in Heart, lung & circulation (2018)
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Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective
Johnson, R., Peters, S., Ingles, J., Correnti, G., Ingrey, A., Mountain, H., Zentner, D., Thompson, T., Oates, E., Ronan, A., Pachter, N., Haan, E., Van Spaendonck-Zwarts, K., Semsarian, C., McGaughran, J., Atherton, J., James, P., Fatkin, D.
Published in Heart, lung & circulation (2019)
Published in Heart, lung & circulation (2019)
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Truncating Variants in the Desmoplakin Gene Cause a Distinct Arrhythmogenic Cardiomyopathy
Burns, C., Hoorntje, E., Corden, B., Parikh, V., Thompson, T., Marsili, L., Gray, B., Reuter, C., Bagnall, R., Correnti, G., Duflou, J., Fatkin, D., Fietz, M., Haan, E., Lam, L., Goldblatt, J., McCarthy, H., Pachter, N., Vohra, J., Whiffin, N., Zentner, D., Wheeler, M., Ashley, E., Semsarian, C., Ware, J., van Tintelen, P., Ingles, J.
Published in Heart, lung & circulation (2019)
Published in Heart, lung & circulation (2019)
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Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
Baynam, Gareth, Molster, Caron, Bauskis, Alicia, Kowal, Emma, Savarirayan, Ravi, Kelaher, Margaret, Easteal, Simon, Massey, Libby, Garvey, Gail, Goldblatt, Jack, Pachter, Nicholas, Weeramanthri, Tarun S., 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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