Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Autor: Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burnett, John R., 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, Mossman, David, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver, 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, Chong, Belinda, 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.

Publikováno v: In The American Journal of Human Genetics 3 November 2022 109(11):1960-1973

Dementia resources for eating, activity, and meaningful inclusion (DREAM) toolkit co-development: process, output, and lessons learned.

Autor: Middleton, Laura E., Freeman, Shannon, Pelletier, Chelsea, Regan, Kayla, Donnelly, Rachael, Skinner, Kelly, Wei, Cindy, Rossnagel, Emma, Nasir, Huda Jamal, Albisser, Tracie, Ajwani, Fatim, Aziz, Sana, Heibein, William, Holmes, Ann, Johannesson, Carole, Romano, Isabella, Sanchez, Louisa, Butler, Alexandra, Doggett, Amanda, Buchan, M. Claire

Publikováno v: Research Involvement & Engagement; 9/29/2023, Vol. 9 Issue 1, p1-16, 16p

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Association studies and functional validation or functional validation alone?

Autor: Samuel F. Berkovic, Louisa Sanchez, Sarah E. Heron, Ingrid E. Scheffer, John C. Mulley

Publikováno v: Epilepsy research. 74(2-3)

a Department of Genetic Medicine, Women’s and Children’s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia b University of Melbourne and Austin Health, Banksia Street, West Heidelberg, Vic. 3081, Australia c Department of Paediat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37552e1469793b5459bb090662e81084
https://pubmed.ncbi.nlm.nih.gov/17433625