OrgUnit's Researchers
(Persons)

Results 1-5 of 6 (Search time: 0.002 seconds).

FullnameTranslated NameEmail
Cotter, Meganmegan.cotter@austin.org.au
Delatycki, Martin Bmartin.delatycki@vcgs.org.au
Salmon, LucindaLucinda.SALMON@austin.org.au
Stutterd, Chloe AChloe.STUTTERD@austin.org.au
Valente, Giulia MGiulia.VALENTE@austin.org.au

OrgUnit's Researchers publications
(Dept/Workgroup Publication)

Results 1-20 of 98 (Search time: 0.011 seconds).

Publication YearTitleAuthor(s)
1Dec-2019A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.Tan, Tiong Yang; Lunke, Sebastian; Chong, Belinda; Phelan, Dean; Fanjul-Fernandez, Miriam; Marum, Justine E; Kumar, Vanessa Siva; Stark, Zornitza; Yeung, Alison; Brown, Natasha J; Stutterd, Chloe; Delatycki, Martin B ; Sadedin, Simon; Martyn, Melissa; Goranitis, Ilias; Thorne, Natalie; Gaff, Clara L; White, Susan M
2Apr-2019A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.Martyn, Melissa; Kanga-Parabia, Anaita; Lynch, Elly; James, Paul A; Macciocca, Ivan; Trainer, Alison H; Halliday, Jane; Keogh, Louise; Wale, Janney; Winship, Ingrid; Bogwitz, Michael; Valente, Giulia M ; Walsh, Maie; Downie, Lilian; Amor, David; Wallis, Mathew J ; Cunningham, Fiona; Burgess, Matthew J; Brown, Natasha J; Jarmolowicz, Anna; Lunke, Sebastian; Goranitis, Ilias; Gaff, Clara L
318-Jan-2021Anhedonia and anergia predict mortality in older Australians living in residential aged care.Greenfield, L; Mathews, S ; Toukhsati, Samia R 
4Mar-2022Anhedonia and anergia predict mortality in older Australians living in residential aged care.Greenfield, L; Mathews, Stephanie ; Toukhsati, Samia R 
522-Oct-2023Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis.Ye, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S 
620-Nov-2013Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.Ioannou, Liane; Massie, John; Lewis, Sharon; Collins, Veronica; McClaren, Belinda; Delatycki, Martin B 
721-Oct-2020Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E
818-Mar-2015An autosomal dominant form of non-cirrhotic portal hypertension.Majumdar, Avik; Delatycki, Martin B ; Crowley, Peter; Lokan, Julie ; Tharian, Benjamin; Angus, Peter W ; Gow, Paul J 
93-Jul-2019Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.Rafehi, Haloom; Szmulewicz, David J; Bennett, Mark F; Sobreira, Nara L M; Pope, Kate; Smith, Katherine R; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A; Barcina, María García; Breen, David P; Chancellor, Andrew M; Cremer, Phillip D; Delatycki, Martin B ; Fogel, Brent L; Hackett, Anna; Halmagyi, G Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R D; Wilson, Michael A; Zee, David S; Valle, David; Amor, David J; Bahlo, Melanie; Lockhart, Paul J
10Sep-2017Blake's pouch cyst in 13q deletion syndrome: posterior fossa malformations may occur due to disruption of multiple genesMyers, Kenneth A; Wallis, Mathew J ; Fitt, Gregory J ; Sarnat, Harvey B; Newton, Mark R
11Oct-2015"Both Sides of the Wheelchair": the views of individuals with, and parents of individuals with Friedreich Ataxia regarding pre-symptomatic testing of minorsLowe, Georgia C; Corben, Louise A; Duncan, Rony E; Yoon, Grace; Delatycki, Martin B 
122021Breast 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
13Nov-2016Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA studySelvadurai, Louisa P; Harding, Ian H; Corben, Louise A; Stagnitti, Monique R; Storey, Elsdon; Egan, Gary F; Delatycki, Martin B ; Georgiou-Karistianis, Nellie
14Aug-2017Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study.Harding, Ian H; Corben, Louise A; Delatycki, Martin B ; Stagnitti, Monique R; Storey, Elsdon; Egan, Gary F; Georgiou-Karistianis, Nellie
15Jun-2016Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.Cotter, Megan ; Archibald, Alison D; McClaren, Belinda J; Burgess, Trent; Francis, David; Hills, Louise; Martyn, Melissa; Oertel, Ralph; Slater, Howard; Cohen, Jonathan; Metcalfe, Sylvia A
16Jan-2021Clinical 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
1729-Jul-2022Clinical 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
1815-Jan-2021The 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 
19Oct-2021Communicating 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
20May-2023Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.Francis, David I; Stark, Zornitza; Scheffer, Ingrid E ; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A ; Krzesinski, Emma I; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan