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| | Publication Year | Title | Author(s) |
| 1 | Dec-2023 | Subjective cognitive changes following premenopausal risk-reducing bilateral salpingo-oophorectomy. | Ramachandra, A; Thomas, E H X; Vincent, A J; Hickey, M; Warren, N; Kulkarni, J; Forrest, L E; Bojadzieva, J; Campbell, Ainsley ; Gurvich, C |
| 2 | 10-Oct-2023 | DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands. | Walker, Romy; Mahmood, Khalid; Como, Julia; Clendenning, Mark; Joo, Jihoon E; Georgeson, Peter; Joseland, Sharelle; Preston, Susan G; Pope, Bernard J; Chan, James M; Austin, Rachel; Bojadzieva, Jasmina; Campbell, Ainsley ; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Ip, Emilia; Kirk, Judy; Mansour, Julia; Mar Fan, Helen; Nichols, Cassandra; Pachter, Nicholas; Ragunathan, Abiramy; Spigelman, Allan; Susman, Rachel; Christie, Michael; Jenkins, Mark A; Pai, Rish K; Rosty, Christophe; Macrae, Finlay A; Winship, Ingrid M; Buchanan, Daniel D |
| 3 | Oct-2023 | A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report. | Walker, Romy; Clendenning, Mark; Joo, Jihoon E; Xue, Jessie; Mahmood, Khalid; Georgeson, Peter; Como, Julia; Joseland, Sharelle; Preston, Susan G; Chan, James M; Jenkins, Mark A; Rosty, Christophe; Macrae, Finlay A; Di Palma, Stephanie; Campbell, Ainsley ; Winship, Ingrid M; Buchanan, Daniel D |
| 4 | 26-Apr-2023 | A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome. | Walker, Romy; Mahmood, Khalid; Joo, Jihoon E; Clendenning, Mark; Georgeson, Peter; Como, Julia; Joseland, Sharelle; Preston, Susan G; Antill, Yoland; Austin, Rachel; Boussioutas, Alex; Bowman, Michelle; Burke, Jo; Campbell, Ainsley ; Daneshvar, Simin; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Henderson, Alex; Higgins, Megan; Hopper, John L; Hutchinson, Ryan A; Ip, Emilia; Isbister, Joanne; Kasem, Kais; Marfan, Helen; Milnes, Di; Ng, Annabelle; Nichols, Cassandra; O'Connell, Shona; Pachter, Nicholas; Pope, Bernard J; Poplawski, Nicola; Ragunathan, Abiramy; Smyth, Courtney; Spigelman, Allan; Storey, Kirsty; Susman, Rachel; Taylor, Jessica A; Warwick, Linda; Wilding, Mathilda; Williams, Rachel; Win, Aung K; Walsh, Michael D; Macrae, Finlay A; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D |
| 5 | Dec-2022 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Fennell, Andrew Paul; Baxter, Anne Elizabeth; Berkovic, Samuel Frank; Ellaway, Carolyn Jane; Forwood, Caitlin; Hildebrand, Michael S ; Kumble, Smitha; McKeown, Colina; Mowat, David; Poke, Gemma; Rajagopalan, Sulekha; Regan, Brigid M; Scheffer, Ingrid E ; Stark, Zornitza; Stutterd, Chloe Alice; Tan, Tiong Yang; Wilkins, Ella Jane; Yeung, Alison; Hunter, Matthew Frank |
| 6 | 29-Jul-2022 | Clinical impact of whole-genome sequencing in patients with early-onset dementia. | Huq, Aamira J; Thompson, Bryony; Bennett, Mark F ; Bournazos, Adam; Bommireddipalli, Shobhana; Gorelik, Alexandra; Schultz, Joshua; Sexton, Adrienne; Purvis, Rebecca; West, Kirsty; Cotter, Megan ; Valente, Giulia M ; Hughes, Andrew J ; Riaz, Moeen; Walsh, Maie; Farrand, Sarah; Loi, Samantha M; Kilpatrick, Trevor; Brodtmann, Amy ; Darby, David G; Eratne, Dhamidhu; Walterfang, Mark; Delatycki, Martin B ; Storey, Elsdon; Fahey, Michael; Cooper, Sandra; Lacaze, Paul; Masters, Colin L ; Velakoulis, Dennis; Bahlo, Melanie; James, Paul A; Winship, Ingrid |
| 7 | Jul-2022 | Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. | Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M; Ewenczyk, Claire; Davies, Kayli C; Lino-Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R E; van der Stelt, Ivo; Howell, Katherine B; Coutelier, Marie; Amor, David J; Mundwiller, Emeline; Guillot-Noël, Lena; Storey, Elsdon; Gardner, R J McKinlay; Wallis, Mathew J ; Brusco, Alfredo; Corti, Olga; Rötig, Agnès; Leventer, Richard J; Brice, Alexis; Delatycki, Martin B ; Stevanin, Giovanni; Lockhart, Paul J; Durr, Alexandra |
| 8 | Jan-2022 | Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. | Bournazos, Adam M; Riley, Lisa G; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S; Al-Shinnag, Mohammad; Alexander, Stephen I; Archibald, Alison D; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J; Bryen, Samantha J; Buckley, Michael F; Chong, Belinda; Davis, Mark R; Dawes, Ruebena; Delatycki, Martin B ; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K; Horton, Ari E; Hunter, Matthew F; Huq, Aamira J; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R; Lemckert, Frances; Leventer, Richard J; Lindsey-Temple, Suzanna E; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E; McCarthy, Hugh J; Menezes, Manoj P; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E; Patel, Chirag; Patel, Shilpan G; Phelan, Dean; Pinner, Jason R; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B; Smith, Janine M; Smith, Richard J; Springer, Amanda; Stark, Zornitza; Strom, Samuel P; Sue, Carolyn M; Tan, Kenneth; Tan, Tiong Y; Tantsis, Esther; Tchan, Michel C; Thompson, Bryony A; Trainer, Alison H; van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M; Williams, Mark G; Wilson, Meredith J; Wong, Wui Kwan; Wright, Dale C; Yap, Patrick; Yeung, Alison; Young, Helen ; Jones, Kristi J; Bennetts, Bruce; Cooper, Sandra T |
| 9 | 2022 | Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk. | Gregory, Gillian; Das Gupta, Kuheli; Meiser, Bettina; Barlow-Stewart, Kristine; Geelan-Small, Peter; Kaur, Rajneesh; Scheepers-Joynt, Maatje; McInerny, Simone; Taylor, Shelby; Antill, Yoland; Salmon, Lucinda ; Smyth, Courtney; Young, Mary-Anne; James, Paul A; Yanes, Tatiane |
| 10 | 2-Nov-2021 | Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study. | Meiser, Bettina; Monnik, Melissa; Austin, Rachel; Nichols, Cassandra; Cops, Elisa; Salmon, Lucinda ; Spurdle, Amanda B; Macrae, Finlay; Taylor, Natalie; Pachter, Nicholas; James, Paul; Kaur, Rajneesh |
| 11 | Oct-2021 | Communicating polygenic risk scores in the familial breast cancer clinic. | Das Gupta, Kuheli; Gregory, Gillian; Meiser, Bettina; Kaur, Rajneesh; Scheepers-Joynt, Maatje; McInerny, Simone; Taylor, Shelby; Barlow-Stewart, Kristine; Antill, Yoland; Salmon, Lucinda ; Smyth, Courtney; McInerney-Leo, Aideen; Young, Mary-Anne; James, Paul A; Yanes, Tatiane |
| 12 | 8-Sep-2021 | Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants. | Murali, Krithika; Dwarte, Tanya M; Nikfarjam, Mehrdad ; Tucker, Katherine M; Vaughan, Rhys B ; Efthymiou, Marios ; Collins, Allison L ; Spigelman, Allan D; Salmon, Lucinda ; Johns, Amber L; Williams, David B; Delatycki, Martin B ; John, Thomas ; Stoita, Alina |
| 13 | 16-Aug-2021 | Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants. | Murali, Krithika; Dwarte, Tanya M; Nikfarjam, Mehrdad ; Tucker, Katherine M; Vaughan, Rhys B ; Efthymiou, Marios ; Collins, Allison L ; Spigelman, Allan D; Salmon, Lucinda ; Johns, Amber L; Williams, David B; Delatycki, Martin B ; John, Thomas ; Stoita, Alina |
| 14 | Apr-2021 | Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis. | Valente, Giulia M ; Amor, David J; Ioannou, Liane J; Archibald, Alison D |
| 15 | 15-Jan-2021 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, Dhamidhu; Schneider, Amy L ; Lynch, Ella; Martyn, Melissa; Velakoulis, Dennis; Fahey, Michael; Kwan, Patrick; Leventer, Richard; Rafehi, Haloom; Chong, Belinda; Stark, Zornitza; Lunke, Sebastian; Phelan, Dean G; O'Keefe, Melanie; Siemering, Kirby; West, Kirsty; Sexton, Adrienne; Jarmolowicz, Anna; Taylor, Jessica A; Schultz, Joshua; Purvis, Rebecca; Uebergang, Eloise; Chalinor, Heather; Creighton, Belinda; Gelfand, Nikki; Saks, Tamar; Prawer, Yael; Smagarinsky, Yana; Pan, Tianxin; Goranitis, Ilias; Ademi, Zanfina; Gaff, Clara; Huq, Aamira; Walsh, Maie; James, Paul A; Krzesinski, Emma I; Wallis, Mathew J ; Stutterd, Chloe A ; Bahlo, Melanie; Delatycki, Martin B ; Berkovic, Samuel F |
| 16 | Jan-2021 | Clinical impact of genomic testing in patients with suspected monogenic kidney disease. | Jayasinghe, Kushani; Stark, Zornitza; Kerr, Peter G; Gaff, Clara; Martyn, Melissa; Whitlam, John B ; Creighton, Belinda; Donaldson, Elizabeth; Hunter, Matthew; Jarmolowicz, Anna; Johnstone, Lilian; Krzesinski, Emma; Lunke, Sebastian; Lynch, Elly; Nicholls, Kathleen; Patel, Chirag; Prawer, Yael; Ryan, Jessica; See, Emily J ; Talbot, Andrew; Trainer, Alison; Tytherleigh, Rigan; Valente, Giulia M ; Wallis, Mathew J ; Wardrop, Louise; West, Kirsty H; White, Susan M; Wilkins, Ella; Mallett, Andrew J; Quinlan, Catherine |
| 17 | 2021 | Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior. | Yanes, Tatiane; Meiser, Bettina; Kaur, Rajneesh; Young, Mary-Anne; Mitchell, Philip B; Scheepers-Joynt, Maatje; McInerny, Simone; Taylor, Shelby; Barlow-Stewart, Kristine; Antill, Yoland; Salmon, Lucinda ; Smyth, Courtney; Betz-Stablein, Brigid; James, Paul A |
| 18 | Dec-2020 | A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients. | Yeung, Alison; Tan, Natalie B; Tan, Tiong Y; Stark, Zornitza; Brown, Natasha; Hunter, Matthew F; Delatycki, Martin B ; Stutterd, Chloe; Savarirayan, Ravi; Mcgillivray, George; Stapleton, Rachel; Kumble, Smitha; Downie, Lilian; Regan, Matthew; Lunke, Sebastian; Chong, Belinda; Phelan, Dean; Brett, Gemma R; Jarmolowicz, Anna; Prawer, Yael; Valente, Giulia M ; Smagarinsky, Yana; Martyn, Melissa; McEwan, Callum; Goranitis, Ilias; Gaff, Clara; White, Susan M |
| 19 | 9-Nov-2020 | Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. | Tudini, Emma; Davidson, Aimee L; Dressel, Uwe; Andrews, Lesley; Antill, Yoland; Crook, Ashley; Field, Michael; Gattas, Michael; Harris, Rebecca; Kirk, Judy; Pachter, Nicholas; Salmon, Lucinda ; Susman, Rachel; Townshend, Sharron; Trainer, Alison H; Tucker, Katherine M; Mitchell, Gillian; James, Paul A; Ward, Robyn L; Mar Fan, Helen; Poplawski, Nicola K; Spurdle, Amanda B |
| 20 | Nov-2020 | Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. | Tan, Natalie B; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B ; Yeung, Alison; Hunter, Matthew F; Amor, David J; Brown, Natasha J; Stutterd, Chloe A ; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lynn S; White, Susan M; Lunke, Sebastian; Tan, Tiong Y |
