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| | Publication Year | Title | Author(s) |
| 41 | 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 |
| 42 | 3-Jan-2014 | HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. | Delatycki, Martin B ; Tai, Geneieve; Corben, Louise A; Yiu, Eppie M; Evans-Galea, Marguerite V; Stephenson, Sarah E M; Gurrin, Lyle; Allen, Katrina J; Lynch, David; Lockhart, Paul J |
| 43 | 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 |
| 44 | 28-May-2020 | How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens. | O'Shea, Rosie; Rankin, Nicole M; Kentwell, Maira; Gleeson, Margaret; Salmon, Lucinda ; Tucker, Katherine M; Lewis, Sarah; Taylor, Natalie |
| 45 | Sep-2016 | How should hyperferritinaemia be investigated and managed? | Ong, Sim Y; Nicoll, Amanda J; Delatycki, Martin B |
| 46 | 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 |
| 7 | 1-Dec-2014 | Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. | Delatycki, Martin B ; Burke, Jo; Christie, Louise; Collins, Felicity; Gabbett, Michael; George, Peter; Haan, Eric; Ioannou, Liane; Martin, Nicole; McKenzie, Fiona; O'Leary, Peter; Scoble-Williams, Nicole; Turner, Gillian; Massie, John |
| 8 | 19-Jul-2016 | Huntington disease: More common than you think? | Delatycki, Martin B ; Bandmann, Oliver |
| 9 | 2015 | "I'm scared of being like mum": The experience of adolescents living in families with huntington disease | Mand, Cara M; Gillam, Lynn; Duncan, Rony E; Delatycki, Martin B |
| 10 | 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 |
| 11 | 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 |
| 12 | 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 |
| 13 | 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 |
| 14 | 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 |
| 15 | 21-Mar-2015 | A longitudinal study of the Friedreich Ataxia Impact Scale. | Tai, Geneieve; Yiu, Eppie M; Corben, Louise A; Delatycki, Martin B |
| 16 | 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 |
| 17 | 2-Jan-2015 | Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined? | Russell, Nicholas ; Delatycki, Martin B ; Grossmann, Mathis |
| 18 | Dec-2022 | Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F ; Brown, Natasha J; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom ; Gardiner, Fiona; Stutterd, Chloe A ; Duan, Jing; Mullen, Saul A ; McGillivray, George; Bodek, Simon; Valente, Giulia M ; Reagan, Matthew; Yao, Yi; Li, Lin; Chen, Li; Boys, Amber; Adikari, Thiuni N; Cao, Dezhi; Hu, Zhanqi; Beshay, Victoria; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 19 | 26-Nov-2014 | Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. | Wilson, Gabrielle R; Sim, Joe C H; McLean, Catriona A; Giannandrea, Maila; Galea, Charles A; Riseley, Jessica R; Stephenson, Sarah E M; Fitzpatrick, Elizabeth; Haas, Stefan A; Pope, Kate; Hogan, Kirk J; Gregg, Ronald G; Bromhead, Catherine J; Wargowski, David S; Lawrence, Christopher H; James, Paul A; Churchyard, Andrew; Gao, Yujing; Phelan, Dean G; Gillies, Greta; Salce, Nicholas; Stanford, Lynn; Marsh, Ashley P L; Mignogna, Maria L; Hayflick, Susan J; Leventer, Richard J; Delatycki, Martin B ; Mellick, George D; Kalscheuer, Vera M; D'Adamo, Patrizia; Bahlo, Melanie; Amor, David John; Lockhart, Paul J |
| 20 | 9-Oct-2013 | Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. | Wilson, Gabrielle R; Sunley, Jasmine; Smith, Katherine R; Pope, Kate; Bromhead, Catherine J; Fitzpatrick, Elizabeth; Di Rocco, Maja; van Steensel, Maurice; Coman, David J; Leventer, Richard J; Delatycki, Martin B ; Amor, David John; Bahlo, Melanie; Lockhart, Paul J |
