Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Lim, Sze Chern, Friemel, Martin, Marum, Justine E, Tucker, Elena J, Bruno, Damien L, Riley, Lisa G, Christodoulou, John, Kirk, Edwin P, Boneh, Avihu, DeGennaro, Christine M, Springer, Michael, Mootha, Vamsi K, Rouault, Tracey A, Leimkühler, Silke, Thorburn, David R, Compton, Alison G
Published in Human molecular genetics (15.11.2013)
Published in Human molecular genetics (15.11.2013)
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Journal Article
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol
Bouffler, Sophie E, Lee, Ling, Lynch, Fiona, Martyn, Melissa, Lynch, Elly, Macciocca, Ivan, Curnow, Lisette, McCorkell, Giulia, Lunke, Sebastian, Chong, Belinda, Marum, Justine E, Delatycki, Martin, Downie, Lilian, Goranitis, Ilias, Vears, Danya F, Best, Stephanie, Clausen, Marc, Bombard, Yvonne, Stark, Zornitza, Gaff, Clara L
Published in BMJ open (02.06.2023)
Published in BMJ open (02.06.2023)
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Journal Article
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Living with discordance: knowledge, challenges, and prevention strategies of HIV-discordant couples in Uganda
Bunnell, R. E., Nassozi, J., Marum, E., Mubangizi, J., Malamba, S., Dillon, B., Kalule, J., Bahizi, J., Musoke, N., Mermin, J. H.
Published in AIDS care (01.11.2005)
Published in AIDS care (01.11.2005)
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Journal Article
ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure
Marum, Justine E., Yeung, David T., Purins, Leanne, Reynolds, John, Parker, Wendy T., Stangl, Doris, Wang, Paul P.S., Price, David J., Tuke, Jonathan, Schreiber, Andreas W., Scott, Hamish S., Hughes, Timothy P., Branford, Susan
Published in Blood advances (08.08.2017)
Published in Blood advances (08.08.2017)
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Journal Article
A peer-led HIV counselling and testing programme for the deaf in Kenya
Taegtmeyer, M, Hightower, A, Opiyo, W, Mwachiro, L, Henderson, K, Angala, P, Ngare, C, Marum, E
Published in Disability and rehabilitation (01.01.2009)
Published in Disability and rehabilitation (01.01.2009)
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Journal Article
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fanjul-Fernandez, Miriam, Marum, Justine E., Hunter, Matthew, Jarmolowicz, Anna, Prawer, Yael, Riseley, Jessica R., Regan, Matthew, Elliott, Justine, Martyn, Melissa, Best, Stephanie, Tan, Tiong Y., Gaff, Clara L., White, Susan M.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease
Branford, Susan, Wang, Paul, Yeung, David T., Thomson, Daniel, Purins, Adrian, Wadham, Carol, Shahrin, Nur Hezrin, Marum, Justine E., Nataren, Nathalie, Parker, Wendy T., Geoghegan, Joel, Feng, Jinghua, Shanmuganathan, Naranie, Mueller, Martin C., Dietz, Christian, Stangl, Doris, Donaldson, Zoe, Altamura, Haley, Georgievski, Jasmina, Braley, Jodi, Brown, Anna, Hahn, Christopher, Walker, Ieuan, Kim, Soo-Hyun, Choi, Soo-Young, Park, Sa-Hee, Kim, Dong-Wook, White, Deborah L., Yong, Agnes S.M., Ross, David M., Scott, Hamish S., Schreiber, Andreas W., Hughes, Timothy P.
Published in Blood (30.08.2018)
Published in Blood (30.08.2018)
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Journal Article
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
Tan, Tiong Yang, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Fanjul-Fernandez, Miriam, Marum, Justine E, Kumar, Vanessa Siva, Stark, Zornitza, Yeung, Alison, Brown, Natasha J, Stutterd, Chloe, Delatycki, Martin B, Sadedin, Simon, Martyn, Melissa, Goranitis, Ilias, Thorne, Natalie, Gaff, Clara L, White, Susan M
Published in European journal of human genetics : EJHG (01.12.2019)
Published in European journal of human genetics : EJHG (01.12.2019)
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Journal Article
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
Rius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Haas, Matilda, Hock, Daniella H., Howting, Denise, Jackson, Matilda R., Kava, Maina P., Kemp, Madonna, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Lee, Joy, Long, Janet C., MacShane, Mandi, Madelli, Evanthia O., Martin, Ellenore M., Marum, Justine E., Mattiske, Tessa, McGill, Jim, Metke, Alejandro, Murray, Sean, Panetta, Julie, Phillips, Liza K., Quinn, Michael C.J., Ryan, Michael T., Schenscher, Sarah, Simons, Cas, Smith, Nicholas, Stroud, David A., Tchan, Michel C., Tom, Melanie, Wallis, Mathew, Ware, Tyson L., Welch, AnneMarie E., Wools, Christine, Wu, You, Christodoulou, John, Thorburn, David R.
Published in Genetics in medicine (19.09.2024)
Published in Genetics in medicine (19.09.2024)
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Journal Article
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
Archibald, Alison D, McClaren, Belinda J, Caruana, Jade, Tutty, Erin, King, Emily A, Halliday, Jane L, Best, Stephanie, Kanga-Parabia, Anaita, Bennetts, Bruce H, Cliffe, Corrina C, Madelli, Evanthia O, Ho, Gladys, Liebelt, Jan, Long, Janet C, Braithwaite, Jeffrey, Kennedy, Jillian, Massie, John, Emery, Jon D, McGaughran, Julie, Marum, Justine E, Boggs, Kirsten, Barlow-Stewart, Kristine, Burnett, Leslie, Dive, Lisa, Freeman, Lucinda, Davis, Mark R, Downes, Martin J, Wallis, Mathew, Ferrie, Monica M, Pachter, Nicholas, Scuffham, Paul A, Casella, Rachael, Allcock, Richard J N, Ong, Royston, Edwards, Samantha, Righetti, Sarah, Lunke, Sebastian, Lewis, Sharon, Walker, Susan P, Boughtwood, Tiffany F, Hardy, Tristan, Newson, Ainsley J, Kirk, Edwin P, Laing, Nigel G, Delatycki, Martin B, The Mackenzie's Mission Study Team
Published in Journal of personalized medicine (28.10.2022)
Published in Journal of personalized medicine (28.10.2022)
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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Kooshavar, Daniz, Amor, David J, Boggs, Kirsten, Baker, Naomi, Barnett, Christopher, de Silva, Michelle G, Edwards, Samantha, Fahey, Michael C, Marum, Justine E, Snell, Penny, Bozaoglu, Kiymet, Pope, Kate, Mohammad, Shekeeb S, Riney, Kate, Sachdev, Rani, Scheffer, Ingrid E, Schenscher, Sarah, Silberstein, John, Smith, Nicholas, Tom, Melanie, Ware, Tyson L, Lockhart, Paul J, Leventer, Richard J
Published in Brain communications (2024)
Published in Brain communications (2024)
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Journal Article
Increasing access to HIV counseling and testing through mobile services in Kenya: strategies, utilization, and cost-effectiveness
Grabbe, Kristina L, Menzies, Nick, Taegtmeyer, Miriam, Emukule, Gideon, Angala, Patrick, Mwega, Irene, Musango, Geraldine, Marum, Elizabeth
Published in Journal of acquired immune deficiency syndromes (1999) (01.07.2010)
Published in Journal of acquired immune deficiency syndromes (1999) (01.07.2010)
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Shadow on the continent: public health and HIV/AIDS in Africa in the 21st century
De Cock, Kevin M, Mbori-Ngacha, Dorothy, Marum, Elizabeth
Published in The Lancet (British edition) (06.07.2002)
Published in The Lancet (British edition) (06.07.2002)
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Journal Article
Using mass media campaigns to promote voluntary counseling and HIV-testing services in Kenya
MARUM, Elizabeth, MORGAN, Gwendolyn, HIGHTOWER, Allen, NGARE, Carol, TAEGTMEYER, Miriam
Published in AIDS (London) (01.10.2008)
Published in AIDS (London) (01.10.2008)
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Journal Article
The contribution of HIV-discordant relationships to new HIV infections in Rakai, Uganda
GRABBE, Kristina L, MEDLEY, Amy, BACHANAS, Pamela, BOCK, Naomi, MARUM, Elizabeth
Published in AIDS (London) (24.09.2011)
Published in AIDS (London) (24.09.2011)
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Journal Article
A serostatus-based approach to HIV/AIDS prevention and care in Africa
de Cock, Kevin M, Marum, Elizabeth, Mbori-Ngacha, Dorothy
Published in The Lancet (British edition) (29.11.2003)
Published in The Lancet (British edition) (29.11.2003)
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Journal Article
Evaluation of a U.S. Evidence-Based Parenting Intervention in Rural Western Kenya: From Parents Matter! to Families Matter
Vandenhoudt, Hilde, Miller, Kim S, Ochura, Juliet, Wyckoff, Sarah C, Obong'o, Christopher O, Otwoma, Nelson J, Poulsen, Melissa N, Menten, Joris, Marum, Elizabeth, Buve, Anne
Published in AIDS education and prevention (01.08.2010)
Published in AIDS education and prevention (01.08.2010)
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Journal Article
Couples at risk: HIV-1 concordance and discordance among sexual partners receiving voluntary counseling and testing in Uganda
Malamba, Samuel S, Mermin, Jonathan H, Bunnell, Rebecca, Mubangizi, John, Kalule, Josephine, Marum, Elizabeth, Hu, Dale J, Wangalwa, Sam, Smith, Dawn, Downing, Robert
Published in Journal of acquired immune deficiency syndromes (1999) (15.08.2005)
Published in Journal of acquired immune deficiency syndromes (1999) (15.08.2005)
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