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| | Publication Year | Title | Author(s) |
| 1 | 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 |
| 2 | 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 |
| 3 | 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 |
| 4 | 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 |
| 5 | 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 |
| 6 | 15-Oct-2020 | 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 |
| 7 | 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 |
| 8 | 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 |
| 9 | 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 |
| 10 | Jan-2020 | Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants. | Wallis, Mathew J ; Boys, Amber; Tassano, Elisa; Delatycki, Martin B |
| 11 | Dec-2019 | A 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 |
| 12 | 3-Jul-2019 | Bioinformatics-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 |
| 13 | 2019 | Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. | Cowley, Mark J; Liu, Yu-Chi; Oliver, Karen L; Carvill, Gemma; Myers, Candace T; Gayevskiy, Velimir; Delatycki, Martin B ; Vlaskamp, Danique R M; Zhu, Ying; Mefford, Heather; Buckley, Michael F; Bahlo, Melanie; Scheffer, Ingrid E ; Dinger, Marcel E; Roscioli, Tony |
| 14 | 6-Dec-2018 | Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data. | Tankard, Rick M; Bennett, Mark F; Degorski, Peter; Delatycki, Martin B ; Lockhart, Paul J; Bahlo, Melanie |
| 15 | Dec-2017 | Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial. | Ong, Sim Y; Gurrin, Lyle C; Dolling, Lara; Dixon, Jeanette; Nicoll, Amanda J; Wolthuizen, Michelle; Wood, Erica M; Anderson, Gregory J; Ramm, Grant A; Allen, Katrina J; Olynyk, John K; Crawford, Darrell; Ramm, Louise E; Gow, Paul J ; Durrant, Simon; Powell, Lawrie W; Delatycki, Martin B |
| 16 | Dec-2017 | Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. | Metcalfe, Sylvia A; Martyn, Melissa; Ames, Alice; Anderson, Vicki; Archibald, Alison D; Carter, Rob; Cohen, Jonathan; Cotter, Megan ; GenCouns, M; Dang, William; Delatycki, Martin B ; Donath, Susan; Edwards, Samantha; Educ, PGrad Dip; Forbes, Robin; Gavrila, Mioara; MedSci, M; Halliday, Jane; Hickerton, Chriselle; Hill, Melissa; Jacobs, Lorilli; Ultrasound, PGrad Dip; Petrou, Vicki; Plunkett, Loren; Sheffield, Leslie; Racp, F; Thornton, Alison; Couns, Grad Dip Gen; Younie, Sandra; Econ, PGrad Dip Hlth; Emery, Jon D |
| 17 | Oct-2017 | Dysphagia in Friedreich Ataxia. | Keage, Megan J; Delatycki, Martin B ; Gupta, Isabelle; Corben, Louise A; Vogel, Adam P |
| 18 | Aug-2017 | Cerebral 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 |
| 19 | Jul-2017 | A longitudinal study of the SF-36 version 2 in Friedreich ataxia | Tai, Geneieve; Corben, Louise A; Yiu, Eppie M; Delatycki, Martin B |
| 20 | Jun-2017 | A novel mechanism for human cardiac Ankyrin-B syndrome due to reciprocal chromosomal translocation | Huq, Aamira J; Pertile, MD; Davis, AM; Landon, H; James, PA; Kline, CF; Vohra, J; Mohler, PJ; Delatycki, Martin B |
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