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The expanding global genomics landscape: Converging priorities from national genomics programs 不断扩大的全球基因组学格局: 来自国家基因组学计划的优先事项 Howley, Caitlin; Haas, Matilda A.; Muftah, Wadha A. Al; Annan, Robert B.; Green, Eric D.; Lundgren, Bettina; Scott, Richard H.; Stark, Zornitza; Tan, Patrick; North, Kathryn N.; Boughtwood, Tiffany 分享 收藏
Agreement, Reliability, Feasibility, and Acceptability of Home-Based Telehealth Versus Face-to-Face Pediatric Neuropsychological Testing: A Within-Person Crossover Study 协议、可靠性、可行性及可接受性：居家远程医疗与面对面儿科神经心理学测试的比较——一项个体内交叉研究 Haebich, Kristina M.; Darke, Hayley; Lami, Francesca; Maier, Alice; Chisholm, Anita K.; Ure, Alex; Hogan, Natasha L.; Eng, Yu Fan; Wrennall, Jacquie; Hearps, Stephen J. C.; Efron, Daryl; Joshua, Nicki; Dabscheck, Gabriel; North, Kathryn N.; Anderson, Vicki A.; Payne, Jonathan M. 分享 收藏
Generation Victoria (GenV): protocol for a longitudinal birth cohort of Victorian children and their parents Hughes, Elizabeth K.; Siero, William; Guelenc, Alisha; Clifford, Susan A.; Frugier, Tony; Hall, Simon M.; Mohal, Jatender; North, Kathryn; Zaritski, Natasha; Goldfeld, Sharon; Saffery, Richard; Wake, Melissa 分享 收藏
Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis Payne, Jonathan M.; Haebich, Kristina M.; Mitchell, Rebecca; Bozaoglu, Kiymet; Giliberto, Emma; Lockhart, Paul J.; Maier, Alice; Velasco, Silvia; Ball, Gareth; North, Kathryn N.; Hocking, Darren R. 分享 收藏
A call to action to scale up research and clinical genomic data sharing 呼吁采取行动扩大研究和临床基因组数据共享 Stark, Zornitza; Glazer, David; Hofmann, Oliver; Rendon, Augusto; Marshall, Christian R.; Ginsburg, Geoffrey S.; Lunt, Chris; Allen, Naomi; Effingham, Mark; Ward, Jillian Hastings; Hill, Sue L.; Ali, Raghib; Goodhand, Peter; Page, Angela; Rehm, Heidi L.; North, Kathryn N.; Scott, Richard H. 分享 收藏
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort 缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析 Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony 分享 收藏
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Integrated multi-omics for rapid rare disease diagnosis on a national scale Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza 分享 收藏
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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare 澳大利亚基因组学: 一项为期5年的国家计划的成果，以加速基因组学在医疗保健中的整合 Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L.; Goranitis, Ilias; Spurdle, Amanda B.; Hansen, David P.; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J.; Scott, Hamish S.; Thorne, Natalie; Ward, Robyn L.; Dinger, Marcel E.; Best, Stephanie; Long, Janet C.; Grimmond, Sean M.; Pearson, John; Waddell, Nicola; Barnett, Christopher P.; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B.; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J.; Lockhart, Paul J.; Lunke, Sebastian; Mallett, Andrew J.; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E.; Semsarian, Christopher; Simons, Cas; Thomas, David M.; Thorburn, David R.; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T.; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael CJ.; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H.; Christodoulou, John; North, Kathryn N. 分享 收藏
Response to Morseburg et al. Wyckelsma, Victoria L.; Venckunas, Tomas; Houweling, Peter J.; Schlittler, Maja; Lauschke, Volker M.; Tiong, Chrystal F.; Wood, Harrison D.; Paulauskas, Henrikas; Eimantas, Nerijus; Andersson, Daniel C.; North, Kathryn N.; Brazaitis, Marius; Westerblad, Hakan 分享 收藏
Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1 1型神经纤维瘤病儿童自闭症行为的性别和年龄相关差异 Chisholm, Anita K.; Lami, Francesca; Haebich, Kristina M.; Ure, Alex; Brignell, Amanda; Maloof, Tiba; Pride, Natalie A.; Walsh, Karin S.; Maier, Alice; Rouel, Melissa; Granader, Yael; Barton, Belinda; Darke, Hayley; Fuelscher, Ian; Dabscheck, Gabriel; Anderson, Vicki A.; Williams, Katrina; North, Kathryn N.; Payne, Jonathan M. 分享 收藏
Delineating the autistic phenotype in children with neurofibromatosis type 1 描述1型神经纤维瘤病儿童的自闭症表型 Chisholm, Anita K.; Haebich, Kristina M.; Pride, Natalie A.; Walsh, Karin S.; Lami, Francesca; Ure, Alex; Maloof, Tiba; Brignell, Amanda; Rouel, Melissa; Granader, Yael; Maier, Alice; Barton, Belinda; Darke, Hayley; Dabscheck, Gabriel; Anderson, Vicki A.; Williams, Katrina; North, Kathryn N.; Payne, Jonathan M. 分享 收藏
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