Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
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Genome sequencing in congenital cataracts improves diagnostic yield
Ma, Alan, Grigg, John R., Flaherty, Maree, Smith, James, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Slater, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Brown, Natasha J., Leighton, Sarah E., Amor, David J., Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Published in Human mutation (01.09.2021)
Published in Human mutation (01.09.2021)
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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
Tanudisastro, Hope A., Holman, Katherine, Ho, Gladys, Farnsworth, Elizabeth, Fisk, Katrina, Gayagay, Thet, Hackett, Emma, Jenkins, Gemma, Krishnaraj, Rahul, Lai, Tiffany, Wong, Karen, Patel, Chirag, Mallawaarachchi, Amali, Mallett, Andrew J., Bennetts, Bruce, Alexander, Stephen I., McCarthy, Hugh J.
Published in Npj genomic medicine (04.03.2021)
Published in Npj genomic medicine (04.03.2021)
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A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region
Arthur, Jonathan W., Pickett, Hilda A., Barbaro, Pasquale M., Kilo, Tatjana, Vasireddy, Raja S., Beilharz, Traude H., Powell, David R., Hackett, Emma L., Bennetts, Bruce, Curtin, Julie A., Jones, Kristi, Christodoulou, John, Reddel, Roger R., Teo, Juliana, Bryan, Tracy M.
Published in EJHaem (01.05.2021)
Published in EJHaem (01.05.2021)
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
Caramins, Melody, Colebatch, James G, Bainbridge, Matthew N, Scherer, Steven S, Abrams, Charles K, Hackett, Emma L, Freidin, Mona M, Jhangiani, Shalini N, Wang, Min, Wu, Yuanqing, Muzny, Donna M, Lindeman, Robert, Gibbs, Richard A
Published in Human molecular genetics (01.11.2013)
Published in Human molecular genetics (01.11.2013)
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A qualitative exploration of motivations and barriers for community leisure organisations' engagement with the Jooay™ mobile app
Thornton, Ashleigh L, Hackett, Emma, Wilkie, Aaron, Gallon, Jodi, Grisbrook, Tiffany L, Elliott, Catherine M, Ciccarelli, Marina
Published in Disability and rehabilitation (24.04.2022)
Published in Disability and rehabilitation (24.04.2022)
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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L., Gao, Song, Hackett, Emma, Hadler, Johanna, Hipwell, Michael, Ho, Gladys, Hollway, Georgina, Hooper, Amanda J., Kassahn, Karin S., Krishnaraj, Rahul, Lau, Chiyan, Le, Huong, San Leong, Huei, Lundie, Ben, Lunke, Sebastian, Marty, Anthony, McPhillips, Mary, Nguyen, Lan T., Nones, Katia, Palmer, Kristen, Pearson, John V., Quinn, Michael C.J., Rawlings, Lesley H., Sadedin, Simon, Sanchez, Louisa, Schreiber, Andreas W., Sigalas, Emanouil, Simsek, Aygul, Soubrier, Julien, Stark, Zornitza, Thompson, Bryony A., U, James, Vakulin, Cassandra G., Wells, Amanda V., Wise, Cheryl A., Woods, Rick, Ziolkowski, Andrew, Brion, Marie-Jo, Scott, Hamish S., Thorne, Natalie P., Spurdle, Amanda B., Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burrows, Linda, Byrne, Alicia, Chan, Eva, Cliffe, Corrina, Clifton-Bligh, Roderick, Dooley, Susan, Fernandez, Miriam Fanjul, Farnsworth, Elizabeth, Ha, Thuong, Henry, Denae, Holds, Duncan, Holman, Katherine, Jackson, Matilda, Kang, Sinlay, Luxford, Catherine, McManus, Sam, Mehrtens, Rachael, Meldrum, Cliff, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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