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

Authors: 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.

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

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

Authors: 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.

Source: American journal of human genetics. 109(11):1960-1973

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178359459.0x000001&indx=1&recIds=ETOCvdc_100178359459.0x000001

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Authors: McKnight, Dianalee, Bean, Lora, Karbassi, Izabela, Beattie, Katelynn, Bienvenu, Thierry, Bonin, Hope, Fang, Ping, Chrisodoulou, John, Friez, Michael, Helgeson, Maria, Krishnaraj, Rahul, Meng, Linyan, Mighion, Lindsey, Neul, Jeffrey, Percy, Alan, Ramsden, Simon, Zoghbi, Huda, Das, Soma

Source: Human mutation. 43(8):1097-1113

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158985141.0x000001&indx=1&recIds=ETOCvdc_100158985141.0x000001

Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets

Authors: Krishnaraj, Rahul, Haase, Florencia, Coorey, Bronte, Luca, Edward J, Wong, Ingar, Boyling, Alexandra, Ellaway, Carolyn, Christodoulou, John, Gold, Wendy A.

Source: Human mutation. 40(12):2184-2196

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093630793.0x000001&indx=1&recIds=ETOCvdc_100093630793.0x000001

The Genome of a Southern Hemisphere Seagrass Species ( Zostera muelleri )

Authors: Lee, HueyTyng, Golicz, Agnieszka A., Bayer, Philipp E., Jiao, Yuannian, Tang, Haibao, Paterson, Andrew H., Sablok, Gaurav, Krishnaraj, Rahul R., Chan, Chon-Kit Kenneth, Batley, Jacqueline, Kendrick, Gary A., Larkum, Anthony W.D., Ralph, Peter J., Edwards, David

Source: Plant Physiology, 2016 Sep 01. 172(1), 272-283.

Access URL: https://www.jstor.org/stable/planphys.172.1.272

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Authors: Fehr, Stephanie, Wong, Kingsley, Chin, Richard, Williams, Simon, de Klerk, Nick, Forbes, David, Krishnaraj, Rahul, Christodoulou, John, Downs, Jenny, Leonard, Helen

Source: Neurology. 87(21):2206-2213

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100038135680.0x000001&indx=1&recIds=ETOCvdc_100038135680.0x000001

Front Cover, Volume 40, Issue 12

Authors: Krishnaraj, Rahul, Haase, Florencia, Coorey, Bronte, Luca, Edward J, Wong, Ingar, Boyling, Alexandra, Ellaway, Carolyn, Christodoulou, John, Gold, Wendy A.

Source: Human mutation. 40(12):i-i

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093630862.0x000001&indx=1&recIds=ETOCvdc_100093630862.0x000001

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Authors: 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.

Source: NPJ Genomic Medicine; 3/4/2021, Vol. 6 Issue 1, p1-9, 9p

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The Genome of a Southern Hemisphere Seagrass Species (Zostera muelleri).

Authors: HueyTyng Lee, Golicz, Agnieszka A., Bayer, Philipp E., Yuannian Jiao, Haibao Tang, Paterson, Andrew H., Sablok, Gaurav, Krishnaraj, Rahul R., Chan, Chon-Kit Kenneth, Batley, Jacqueline, Kendrick, Gary A., Larkum, Anthony W. D., Ralph, Peter J., Edwards, David

Source: Plant Physiology; Sep2016, Vol. 172 Issue 1, p272-283, 12p