|
| | Publication Year | Title | Author(s) |
| 1 | 30-Nov-2023 | Endophenotyping social cognition in the broader autism phenotype. | Pua, Emmanuel Peng Kiat; Desai, Tarishi; Green, Cherie; Trevis, Krysta; Brown, Natasha; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah |
| 2 | 5-Jan-2023 | An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. | Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F ; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J ; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B ; Bahlo, Melanie; Lockhart, Paul J |
| 3 | 2023 | Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. | Rafehi, Haloom; Green, Cherie; Bozaoglu, Kiymet; Gillies, Greta; Delatycki, Martin B ; Lockhart, Paul J; Scheffer, Ingrid E ; Bahlo, Melanie |
| 4 | 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 |
| 5 | 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 |
| 6 | 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 |
| 7 | 2022 | A family study implicates GBE1 in the etiology of autism spectrum disorder. | Fanjul-Fernández, Miriam; Brown, Natasha J; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P; Eichler, Evan E; Delatycki, Martin B ; Wilson, Sarah J; Bahlo, Melanie; Scheffer, Ingrid E ; Lockhart, Paul J |
| 8 | Oct-2021 | Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. | Stutterd, Chloe A ; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y; Archer, John S ; Leventer, Richard J; Amor, David J; Lukic, Vesna; Bahlo, Melanie; Gow, Paul J ; Lockhart, Paul J; van der Knaap, Marjo S; Delatycki, Martin B |
| 9 | 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 |
| 10 | 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 |
| 11 | 19-Jul-2021 | Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis. | Ong, Sim Yee; Khoo, Tiffany; Nicoll, Amanda J; Gurrin, Lyle; Worland, Thomas ; Pateria, Puraskar; Ramm, Louise E; Testro, Adam G ; Anderson, Gregory J; Skoien, Richard; Powell, Lawrie W; Ramm, Grant A; Olynyk, John K; Delatycki, Martin B |
| 12 | 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 |
| 13 | 2021 | Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. | Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin B ; Lamont, Phillipa J; Chan, Sophelia Hs; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, George; Ghedia, Sondhya; Chao, Katherine; O'Donnell-Luria, Anne; Laing, Nigel G; Davis, Mark R |
| 14 | 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 |
| 15 | 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 |
| 16 | 27-Oct-2020 | Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. | Trevis, Krysta J; Brown, Natasha J; Green, Cherie C; Lockhart, Paul J; Desai, Tarishi; Vick, Tanya; Anderson, Vicki; Pua, Emmanuel P K; Bahlo, Melanie; Delatycki, Martin B ; Scheffer, Ingrid E ; Wilson, Sarah J |
| 17 | 21-Oct-2020 | Author 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 |
| 18 | 1-Oct-2020 | 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 |
| 19 | 14-May-2020 | Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data. | Rafehi, Haloom; Szmulewicz, David J; Pope, Kate; Wallis, Mathew; Christodoulou, John; White, Susan M; Delatycki, Martin B ; Lockhart, Paul J; Bahlo, Melanie |
| 20 | Apr-2020 | Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA. | Shishegar, Rosita; Harding, Ian H; Corben, Louise A; Delatycki, Martin B ; Storey, Elsdon; Egan, Gary F; Georgiou-Karistianis, Nellie |
Loading...
2
0
20
0
false