WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review
Anderson, Erin, Aldridge, Melanie, Turner, Ross, Harraway, James, McManus, Sam, Stewart, Anna, Borzi, Peter, Trnka, Peter, Burke, John, Coman, David
Published in Pediatric nephrology (Berlin, West) (01.10.2022)
Published in Pediatric nephrology (Berlin, West) (01.10.2022)
Get full text
Journal Article
Validation of EGFR mutation testing on cytological smears of lung cancer using the Idylla platform
Snell, Cameron, McManus, Sam, Robinson, Kelly, Lewis, Wendy, Arandelovic, Samantha, Lourie, Rohan, Harraway, James
Published in Pathology (01.10.2022)
Published in Pathology (01.10.2022)
Get full text
Journal Article
Understanding complex begins with knowing the simple
Roy, Priya Susan, Hui, Lawrence, McKinley, Mark, Nandini, Adapalayam, McManus, Sam, Aung, Hnin, AbdulRasool, Ghusoon, Lau, Chiyan
Published in Pathology (01.02.2023)
Published in Pathology (01.02.2023)
Get full text
Journal Article
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Huynh, Aimee, E Gray, Paul, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Della Mina, Erika, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, H. Wainwright, Luke, Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, S Ma, Cindy, G. Tangye, Stuart
Published in Journal of clinical immunology (19.09.2024)
Published in Journal of clinical immunology (19.09.2024)
Get full text
Journal Article
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Huynh, Aimee, Gray, Paul E, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Mina, Erika Della, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, Wainwright, Luke H., Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, Ma, Cindy S, Tangye, Stuart G.
Published in Journal of clinical immunology (01.12.2024)
Published in Journal of clinical immunology (01.12.2024)
Get full text
Journal Article
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
Yıldız Bölükbaşı, Esra, Karolak, Justyna A, Szafranski, Przemyslaw, Gambin, Tomasz, Matsika, Admire, McManus, Sam, Scott, Hamish S, Arts, Peer, Ha, Thuong, Barnett, Christopher P, Rodgers, Jonathan, Stankiewicz, Paweł
Published in European journal of human genetics : EJHG (01.10.2022)
Published in European journal of human genetics : EJHG (01.10.2022)
Get full text
Journal Article
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)
Get full text
Journal Article
A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome
McGown, Ivan, Williams, Mark, McManus, Sam, Huynh, Tony, Harraway, James
Published in International journal of pediatric endocrinology (28.04.2015)
Published in International journal of pediatric endocrinology (28.04.2015)
Get full text
Journal Article
Lancelin sand dune accidents lead Shire of Gingin to ask WA government to take over area: The shire in charge of Western Australia's famous Lancelin sand dunes is asking the state government to take over the area after two more teenagers were injured at the tourist hotspot over the weekend
Get full text
Newsletter
WA councils continue to debate COVID-19 vaccination mandates, driven by ratepayers: A 14th council is forced by a small group of ratepayers to consider opposing state government mandates, prompting frustration about the "increasing number" of local governments having to tackle the issue
Get full text
Newsletter
EMEA supply chain finance review: A mixed bag of opportunity
Get full text
Trade Publication Article