9 results on '"Ravine, Anja"'
Search Results
2. Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples
- Author
-
Ludwig, Karissa, primary, Lai, Fei, additional, Wiley, Veronica, additional, Ravine, Anja, additional, and Srinivasan, Shubha, additional
- Published
- 2023
- Full Text
- View/download PDF
3. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
- Author
-
Tudini, Emma, primary, Andrews, James, additional, Lawrence, David M., additional, King-Smith, Sarah L., additional, Baker, Naomi, additional, Baxter, Leanne, additional, Beilby, John, additional, Bennetts, Bruce, additional, Beshay, Victoria, additional, Black, Michael, additional, Boughtwood, Tiffany F., additional, Brion, Kristian, additional, Cheong, Pak Leng, additional, Christie, Michael, additional, Christodoulou, John, additional, Chong, Belinda, additional, Cox, Kathy, additional, Davis, Mark R., additional, Dejong, Lucas, additional, Dinger, Marcel E., additional, Doig, Kenneth D., additional, Douglas, Evelyn, additional, Dubowsky, Andrew, additional, Ellul, Melissa, additional, Fellowes, Andrew, additional, Fisk, Katrina, additional, Fortuno, Cristina, additional, Friend, Kathryn, additional, Gallagher, Renee L., additional, Gao, Song, additional, Hackett, Emma, additional, Hadler, Johanna, additional, Hipwell, Michael, additional, Ho, Gladys, additional, Hollway, Georgina, additional, Hooper, Amanda J., additional, Kassahn, Karin S., additional, Krishnaraj, Rahul, additional, Lau, Chiyan, additional, Le, Huong, additional, San Leong, Huei, additional, Lundie, Ben, additional, Lunke, Sebastian, additional, Marty, Anthony, additional, McPhillips, Mary, additional, Nguyen, Lan T., additional, Nones, Katia, additional, Palmer, Kristen, additional, Pearson, John V., additional, Quinn, Michael C.J., additional, Rawlings, Lesley H., additional, Sadedin, Simon, additional, Sanchez, Louisa, additional, Schreiber, Andreas W., additional, Sigalas, Emanouil, additional, Simsek, Aygul, additional, Soubrier, Julien, additional, Stark, Zornitza, additional, Thompson, Bryony A., additional, U, James, additional, Vakulin, Cassandra G., additional, Wells, Amanda V., additional, Wise, Cheryl A., additional, Woods, Rick, additional, Ziolkowski, Andrew, additional, Brion, Marie-Jo, additional, Scott, Hamish S., additional, Thorne, Natalie P., additional, Spurdle, Amanda B., additional, Akesson, Lauren, additional, Allcock, Richard, additional, Ashton, Katie, additional, Bell, Damon A., additional, Brown, Anna, additional, Buckley, Michael, additional, Burnett, John R., additional, Burrows, Linda, additional, Byrne, Alicia, additional, Chan, Eva, additional, Cliffe, Corrina, additional, Clifton-Bligh, Roderick, additional, Dooley, Susan, additional, Fernandez, Miriam Fanjul, additional, Farnsworth, Elizabeth, additional, Ha, Thuong, additional, Henry, Denae, additional, Holds, Duncan, additional, Holman, Katherine, additional, Jackson, Matilda, additional, Kang, Sinlay, additional, Luxford, Catherine, additional, McManus, Sam, additional, Mehrtens, Rachael, additional, Meldrum, Cliff, additional, Mossman, David, additional, Pantaleo, Sarah-Jane, additional, Phelan, Dean, additional, Pontikinas, Electra, additional, Ravine, Anja, additional, Roscioli, Tony, additional, Scott, Rodney, additional, Simons, Keryn, additional, and Vanwageningen, Oliver, additional
- Published
- 2022
- Full Text
- View/download PDF
4. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
- Author
-
Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional
- Published
- 2022
- Full Text
- View/download PDF
5. Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
- Author
-
Farrar, Michelle A., Kariyawasam, Didu, Grattan, Sarah, Bayley, Klair, Davis, Mark, Holland, Sandra, Waddel, Leigh B., Jones, Kristi, Lorentzos, Michelle, Ravine, Anja, Wotton, Tiffany, and Wiley, Veronica
- Published
- 2023
- Full Text
- View/download PDF
6. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
- Author
-
D'Silva, Arlene M, Kariyawasam, Didu S T, Best, Stephanie, Wiley, Veronica, Farrar, Michelle A, Ravine, Anja, Mowat, David, Sampaio, Hugo, Alexander, Ian E, Russell, Jacqui, Jones, Kristi, and Junek, Zena
- Subjects
SPINAL muscular atrophy ,NEWBORN screening ,NEWBORN infants ,MEDICAL care - Abstract
Aim: This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA). Method: We used an implementation‐effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2‐year pilot study. Results: The NBS programme screened 252 081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false‐positive rate less than 0.001%, a false‐negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of SMN2 in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen‐positive newborn infants within the first 4 weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation. Interpretation: This pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice. This original article is commented by Mueller‐Felber on page 535 of this issue. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
7. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
- Author
-
Palmer, Elizabeth E., primary, Carroll, Renee, additional, Shaw, Marie, additional, Kumar, Raman, additional, Minoche, Andre E., additional, Leffler, Melanie, additional, Murray, Lucinda, additional, Macintosh, Rebecca, additional, Wright, Dale, additional, Troedson, Chris, additional, McKenzie, Fiona, additional, Townshend, Sharron, additional, Ward, Michelle, additional, Nawaz, Urwah, additional, Ravine, Anja, additional, Runke, Cassandra K., additional, Thorland, Erik C., additional, Hummel, Marybeth, additional, Foulds, Nicola, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, Le Caignec, Cédric, additional, Demeer, Bénédicte, additional, Andrieux, Joris, additional, Albarazi, Salam Hadah, additional, Bye, Ann, additional, Sachdev, Rani, additional, Kirk, Edwin P., additional, Cowley, Mark J., additional, Field, Mike, additional, and Gecz, Jozef, additional
- Published
- 2020
- Full Text
- View/download PDF
8. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
- Author
-
Kirk, Edwin P., primary, Ong, Royston, additional, Boggs, Kirsten, additional, Hardy, Tristan, additional, Righetti, Sarah, additional, Kamien, Ben, additional, Roscioli, Tony, additional, Amor, David J., additional, Bakshi, Madhura, additional, Chung, Clara W. T., additional, Colley, Alison, additional, Jamieson, Robyn V., additional, Liebelt, Jan, additional, Ma, Alan, additional, Pachter, Nicholas, additional, Rajagopalan, Sulekha, additional, Ravine, Anja, additional, Wilson, Meredith, additional, Caruana, Jade, additional, Casella, Rachael, additional, Davis, Mark, additional, Edwards, Samantha, additional, Archibald, Alison, additional, McGaughran, Julie, additional, Newson, Ainsley J., additional, Laing, Nigel G., additional, and Delatycki, Martin B., additional
- Published
- 2020
- Full Text
- View/download PDF
9. RCPAQAP Update: Quality Assurance In Maternal Cell Contamination
- Author
-
Bennetts, Bruce, primary, Carey, Louise, additional, Munusamy, Nalishia, additional, Horan, Martin, additional, Chai, Sze Yee, additional, and Ravine, Anja, additional
- Published
- 2019
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.