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| | Publication Year | Title | Author(s) |
| 61 | 28-Sep-2014 | Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. | Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J; Marinovic-Terzic, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C H; Smith, Katherine R; Oehler, Judith; Cabrera, Elisa; Freire, Raimundo; Pope, Kate; Nahid, Amsha; Norris, Fiona; Leventer, Richard J; Delatycki, Martin B ; Barbi, Gotthold; von Ameln, Simon; Högel, Josef; Degoricija, Marina; Fertig, Regina; Burkhalter, Martin D; Hofmann, Kay; Thiele, Holger; Altmüller, Janine; Nürnberg, Gudrun; Nürnberg, Peter; Bahlo, Melanie; Martin, George M; Aalfs, Cora M; Oshima, Junko; Terzic, Janos; Amor, David John; Dikic, Ivan; Ramadan, Kristijan; Kubisch, Christian |
| 62 | 2-Jun-2014 | Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study. | Corben, Louise A; Kashuk, Saman R; Akhlaghi, Hamed; Jamadar, Sharna; Delatycki, Martin B ; Fielding, Joanne; Johnson, Beth; Georgiou-Karistianis, Nellie; Egan, Gary F |
| 63 | 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 |
| 64 | 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 |
| 65 | Mar-2016 | Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication. | Hodgson, Jan; Metcalfe, Sylvia; Gaff, Clara; Donath, Susan; Delatycki, Martin B ; Winship, Ingrid; Skene, Loane; Aitken, MaryAnne; Halliday, Jane |
| 66 | 20-Jul-2019 | Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. | Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Harlan De Crescenzo, Angelo; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S ; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew J ; Walsh, Laurence; Yang, Sandra; Yuen, Ryan K C; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami |
| 67 | 9-Jan-2015 | Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. | Yiu, Eppie M; Brockley, Cain R; Lee, Katherine J; Carroll, Kate; de Valle, Katy; Kennedy, Rachel; Rao, Padma; Delatycki, Martin B ; Ryan, Monique M |
| 68 | Apr-2021 | Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. | Myers, Kenneth A; Marini, Carla; Carvill, Gemma L; McTague, Amy; Panetta, Julie; Stutterd, Chloe A ; Stanley, Thorsten; Marin, Samantha; Nguyen, John; Barba, Carmen; Rosati, Anna; Scott, Richard H; Mefford, Heather C; Guerrini, Renzo; Scheffer, Ingrid E |
| 69 | 2022 | Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk. | Gregory, Gillian; Das Gupta, Kuheli; Meiser, Bettina; Barlow-Stewart, Kristine; Geelan-Small, Peter; Kaur, Rajneesh; Scheepers-Joynt, Maatje; McInerny, Simone; Taylor, Shelby; Antill, Yoland; Salmon, Lucinda ; Smyth, Courtney; Young, Mary-Anne; James, Paul A; Yanes, Tatiane |
| 70 | 12-Sep-2013 | Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. | Ioannou, Liane; McClaren, Belinda J; Massie, John; Lewis, Sharon; Metcalfe, Sylvia A; Forrest, Laura; Delatycki, Martin B |
| 71 | 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 |
| 72 | 21-Jan-2020 | Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy. | Ramchand, Jay ; Wallis, Mathew J ; Macciocca, Ivan; Lynch, Elly; Farouque, Omar ; Martyn, Melissa; Phelan, Dean; Chong, Belinda; Lockwood, Siobhan; Weintraub, Robert; Thompson, Tina; Trainer, Alison; Zentner, Dominica; Vohra, Jitendra; Chetrit, Michael; Hare, David L ; James, Paul |
| 73 | 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 |
| 74 | 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 |
| 75 | 1-Apr-2015 | Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials. | Delatycki, Martin B ; Gurrin, Lyle C; Ong, Sim Yee; Ramm, Grant A; Anderson, Gregory J; Olynyk, John K; Allen, Katie J; Nicoll, Amanda J; Powell, Lawrie W |
| 76 | 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 |
| 77 | 19-Apr-2014 | Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement. | Hocking, Darren R; Corben, Louise A; Fielding, Joanne; Cremer, Phillip D; Millist, Lynette; White, Owen B; Delatycki, Martin B |
| 78 | 12-Aug-2015 | Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron). | Ong, Sim Yee; Dolling, Lara; Dixon, Jeannette L; Nicoll, Amanda J; Gurrin, Lyle C; Wolthuizen, Michelle; Wood, Erica M; Anderson, Greg J; Ramm, Grant A; Allen, Katrina J; Olynyk, John K; Crawford, Darrell; Kava, Jennifer; Ramm, Louise E; Gow, Paul J ; Durrant, Simon; Powell, Lawrie W; Delatycki, Martin B |
| 79 | 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 |
| 80 | 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 |
