IRUS-ANZ has moved. From January 2022, new monthly statistics will only be added to the IRUS R5 service. This site is archived. All statistics up to December 2021 will remain available on this site.
| Author | Identifier | Number of Items | Total Downloads |
|---|---|---|---|
| Helman, G |  https://orcid.org/0000-0002-4784-7423 |
4 | 547 |
| Title | Author(s) | IrusType | Repository | Item URL | Total Downloads |
|---|---|---|---|---|---|
| A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies | Parikh, Sumit; Bernard, Geneviève; Leventer, Richard J.; van der Knaap, Marjo S.; van Hove, Johan; Pizzino, Amy; McNeill, Nathan H.; Helman, Guy; Simons, Cas; Schmidt, Johanna L.; Rizzo, William B.; Patterson, Marc C.; Taft, Ryan J.; Vanderver, Adeli | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:356542 | 481 |
| Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing | Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:0335390 | 26 |
| Randomized clinical trial of first‐line genome sequencing in pediatric white matter disorders | Vanderver, Adeline; Bernard, Genevieve; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie; Masser‐Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephan | Article | University of Queensland [UQ eSpace] | 26 | |
| Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform | Helman, Guy; Takanohashi, Asako; Hagemann, Tracy L.; Perng, Ming D.; Walkiewicz, Marzena; Woidill, Sarah; Sase, Sunetra; Cross, Zachary; Du, Yangzhu; Zhao, Ling; Waldman, Amy; Haake, Bret C.; Fatemi, Ali; Brenner, Michael; Sherbini, Omar; Messing, Albee; | Article | University of Queensland [UQ eSpace] | 14 |
