Search Results - "MARUM, E"

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes by 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

“…Iron-sulfur clusters (ISCs) are important prosthetic groups that define the functions of many proteins. Proteins with ISCs (called iron-sulfur or Fe-S…”
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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 by 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

“…IntroductionAs routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for…”
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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome by 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.

“…Leigh syndrome (LS) is a severe neurodegenerative disorder with characteristic bilateral lesions, typically in the brainstem and basal ganglia. It usually…”
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Living with discordance: knowledge, challenges, and prevention strategies of HIV-discordant couples in Uganda by Bunnell, R. E., Nassozi, J., Marum, E., Mubangizi, J., Malamba, S., Dillon, B., Kalule, J., Bahizi, J., Musoke, N., Mermin, J. H.

“…Prevalence of HIV-discordance among couples in sub-Saharan Africa is high. Negative partners are at high risk of HIV infection but few HIV/AIDS service…”
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ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure by 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

“…Scoring systems used at diagnosis of chronic myeloid leukemia (CML), such as Sokal risk, provide important response prediction for patients treated with…”
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A peer-led HIV counselling and testing programme for the deaf in Kenya by Taegtmeyer, M., Hightower, A., Opiyo, W., Mwachiro, L., Henderson, K., Angala, P., Ngare, C., Marum, E.

“…Purpose. To describe and evaluate the establishment of the first VCT services for the Deaf in Africa. Method. Operational research methods were used to…”
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Meeting the challenges of implementing rapid genomic testing in acute pediatric care by 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.

“…The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Rapid…”
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Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease by 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.

“…Genomic events associated with poor outcome in chronic myeloid leukemia (CML) are poorly understood. We performed whole-exome sequencing, copy-number…”
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A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis by 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

“…Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including both biological parents with…”
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The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses by 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.

“…Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular…”
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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation by 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

“…Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked…”
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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations by 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

“…Abstract This study aimed to determine the diagnostic yield of singleton exome sequencing and subsequent research-based trio exome analysis in children with a…”
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Increasing Access to HIV Counseling and Testing Through Mobile Services in Kenya: Strategies, Utilization, and Cost-Effectiveness by GRABBE, Kristina L, MENZIES, Nick, TAEGTMEYER, Miriam, EMUKULE, Gideon, ANGALA, Patrick, MWEGA, Irene, MUSANGO, Geraldine, MARUM, Elizabeth

“…This study compares client volume, demographics, testing results, and costs of 3 "mobile" HIV counseling and testing (HCT) approaches with existing…”
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Shadow on the continent: public health and HIV/AIDS in Africa in the 21st century by De Cock, Kevin M, Mbori-Ngacha, Dorothy, Marum, Elizabeth

“…Approaches to the prevention and control of the HIV/AIDS epidemic in Africa have been heavily based on early experiences and policies from industrialised…”
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Using mass media campaigns to promote voluntary counseling and HIV-testing services in Kenya by MARUM, Elizabeth, MORGAN, Gwendolyn, HIGHTOWER, Allen, NGARE, Carol, TAEGTMEYER, Miriam

“…Kenya, a country with high HIV prevalence, has seen a rapid scale-up of voluntary counseling and HIV-testing (VCT) services from three sites in 2000 to 585 by…”
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The contribution of HIV-discordant relationships to new HIV infections in Rakai, Uganda by GRABBE, Kristina L, MEDLEY, Amy, BACHANAS, Pamela, BOCK, Naomi, MARUM, Elizabeth

“…In their recent research letter entitled 'The contribution of HIV-discordant relationships to new HIV infections in Rakai, Uganda', Gray et al. [1] argue that…”
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Planning and evaluating strategies for AIDS health education interventions in the Muslim community in Uganda by Kagimu, M, Marum, E, Serwadda, D

“…In 1992 the Islamic Medical Association of Uganda designed an AIDS prevention project. A baseline survey was conducted to assess prevailing knowledge,…”
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A serostatus-based approach to HIV/AIDS prevention and care in Africa by de Cock, Kevin M, Marum, Elizabeth, Mbori-Ngacha, Dorothy

“…The panel shows an approach to HIV prevention based on knowledge of infection status. The prevention acronym ABC (abstinence, be faithful, use condoms) ignores…”
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Evaluation of a U.S. Evidence-Based Parenting Intervention in Rural Western Kenya: From Parents Matter! to Families Matter by 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

“…We evaluated Families Matter! Program (FMP), an intervention designed to improve parent-child communication about sexual risk reduction and parenting skills…”
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Couples at Risk: HIV-1 Concordance and Discordance Among Sexual Partners Receiving Voluntary Counseling and Testing in Uganda by Malamba, Samuel S, Mermin, Jonathan H, Bunnell, Rebecca, Mubangizi, John, Kalule, Josephine, Marum, Elizabeth, Hu, Dale J, Wangalwa, Sam, Smith, Dawn, Downing, Robert

“…OBJECTIVE:To determine correlates of HIV-1 concordance for couples receiving voluntary HIV counseling and testing. DESIGN:Cross-sectional study of couples…”
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