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| | Publication Year | Title | Author(s) |
| 21 | 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 |
| 22 | 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 |
| 23 | 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 |
| 24 | 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 |
| 25 | 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 |
| 26 | 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 |
| 27 | 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 |
| 28 | Oct-2017 | Dysphagia in Friedreich Ataxia. | Keage, Megan J; Delatycki, Martin B ; Gupta, Isabelle; Corben, Louise A; Vogel, Adam P |
| 29 | 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 |
| 30 | 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 |
| 31 | 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 |
| 32 | Apr-2017 | HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: a genotype-stratified cohort study of hemochromatosis in Australian women | Warne, Charles D; Zaloumis, Sophie G; Bertalli, Nadine A; Delatycki, Martin B ; Nicoll, Amanda J; McLaren, Christine E; Hopper, John L; Giles, Graham G; Anderson, Gregory J; Olynyk, John K; Powell, Lawrie W; Allen, Katrina J; Gurrin, Lyle C; The HealthIron Study Investigators |
| 33 | Apr-2017 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. | Stessman, Holly A F; Xiong, Bo; Coe, Bradley P; Wang, Tianyun; Hoekzema, Kendra; Fenckova, Michaela; Kvarnung, Malin; Gerdts, Jennifer; Trinh, Sandy; Cosemans, Nele; Vives, Laura; Lin, Janice; Turner, Tychele N; Santen, Gijs; Ruivenkamp, Claudia; Kriek, Marjolein; van Haeringen, Arie; Aten, Emmelien; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Haan, Eric; Shaw, Marie; Gecz, Jozef; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Schwartz, Charles; Kooy, R Frank; Vandeweyer, Geert; Helsmoortel, Celine; Romano, Corrado; Alberti, Antonino; Vinci, Mirella; Avola, Emanuela; Giusto, Stefania; Courchesne, Eric; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Amaral, David G; Scheffer, Ingrid E ; Delatycki, Martin B ; Lockhart, Paul J; Hormozdiari, Fereydoun; Harich, Benjamin; Castells-Nobau, Anna; Xia, Kun; Peeters, Hilde; Nordenskjöld, Magnus; Schenck, Annette; Bernier, Raphael A; Eichler, Evan E |
| 14 | Mar-2017 | Voice in Friedreich Ataxia | Vogel, Adam P; Wardrop, Mayumi I; Folker, Joanne E; Synofzik, Matthis; Corben, Louise A; Delatycki, Martin B ; Awan, Shaheen N |
| 15 | 2017 | How should we deal with misattributed paternity? A survey of lay public attitudes. | Lowe, Georgia; Pugh, Jonathan; Kahane, Guy; Corben, Louise; Lewis, Sharon; Delatycki, Martin B ; Savulescu, Julian |
| 16 | Nov-2016 | Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study. | Harding, Ian H; Raniga, Parnesh; Delatycki, Martin B ; Stagnitti, Monique R; Corben, Louise A; Storey, Elsdon; Georgiou-Karistianis, Nellie; Egan, Gary F |
| 17 | Nov-2016 | Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study | Selvadurai, Louisa P; Harding, Ian H; Corben, Louise A; Stagnitti, Monique R; Storey, Elsdon; Egan, Gary F; Delatycki, Martin B ; Georgiou-Karistianis, Nellie |
| 18 | 30-Oct-2016 | Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed? | Stark, Zornitza; Wallaca, Jane; Gillam, Lynn; Burgess, Matthew; Delatycki, Martin B |
| 19 | Sep-2016 | How should hyperferritinaemia be investigated and managed? | Ong, Sim Y; Nicoll, Amanda J; Delatycki, Martin B |
| 20 | 19-Jul-2016 | Huntington disease: More common than you think? | Delatycki, Martin B ; Bandmann, Oliver |
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