日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Consultation informs strategies for improving the use of functional evidence in variant classification

咨询为改进变异分类中功能证据的使用策略提供了信息。

Villani, Rehan M; Terrill, Bronwyn; Tudini, Emma; McKenzie, Maddison E; Cliffe, Corrina C; Hahn, Christopher N; Lundie, Ben; Mattiske, Tessa; Matotek, Ebony; McEwen, Abbye E; Nickerson, Sarah L; Breen, James; Fowler, Douglas M; Christodoulou, John; Starita, Lea; Rubin, Alan F; Spurdle, Amanda B

A long non-coding RNA Leat1 mediates the hormone responsiveness of EfnB2 during male urogenital development.

长链非编码RNA Leat1介导男性泌尿生殖系统发育过程中EfnB2的激素反应性。

Mattiske Deidre, Bernard Pascal, Gradie Paul E, Behringer Richard R, Overbeek Paul A, J O'Neill Rachel, Phillips Tiffany, Stewart Melanie, Youngson Neil, Tarulli Gerard, Pask Andrew J

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol

提高肾脏遗传疾病的诊断结果:KidGen 国家肾脏基因组学研究方案

Mallawaarachchi, Amali; McCarthy, Hugh; Forbes, Thomas A; Jayasinghe, Kushani; Patel, Chirag; Alexander, Stephen I; Boughtwood, Tiffany; Braithwaite, Jeffrey; Chakera, Aron; Crafter, Sam; Deveson, Ira W; Faull, Randall; Harris, Trudie; Johnstone, Lilian; Jose, Matthew; Leaver, Anna; Little, Melissa H; MacArthur, Daniel; Mattiske, Tessa; Mincham, Christine; Nicholls, Kathy; Quinlan, Catherine; Quinn, Michael C J; Rangan, Gopala; Ryan, Jessica; Simons, Cas; Smyth, Ian; Sundaram, Madhivanan; Trnka, Peter; Wedd, Laura; Biros, Erik; Stark, Zornitza; Mallett, Andrew

Estrogenic endocrine disruptor exposure directly impacts erectile function

雌激素类内分泌干扰物暴露直接影响勃起功能

Cripps, Samuel M; Marshall, Sarah A; Mattiske, Deidre M; Ingham, Rachel Y; Pask, Andrew J

Prenatal exposure to diethylstilbestrol has multigenerational effects on folliculogenesis

产前接触己烯雌酚对卵泡发育具有多代影响。

Rogers, Rachael E; Fowler, Kate A; Pask, Andrew J; Mattiske, Deidre M

Consultation informs strategies to improve functional evidence use in variant classification

咨询有助于制定策略,以改进变异分类中功能性证据的使用。

Villani, Rehan M; Terrill, Bronwyn; Tudini, Emma; McKenzie, Maddison E; Cliffe, Corrina C; Hahn, Christopher N; Lundie, Ben; Mattiske, Tessa; Matotek, Ebony; McEwen, Abbye E; Nickerson, Sarah L; Breen, James; Fowler, Douglas M; Christodoulou, John; Starita, Lea; Rubin, Alan F; Spurdle, Amanda B

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

用于基因组测序的多层分析平台:澳大利亚基因组学心血管疾病旗舰项目的设计和初步研究结果

Austin, Rachel; Brown, Jaye S; Casauria, Sarah; Madelli, Evanthia O; Mattiske, Tessa; Boughtwood, Tiffany; Metke, Alejandro; Davis, Andrew; Horton, Ari E; Winlaw, David; Das, Debjani; Soka, Magdalena; Giannoulatou, Eleni; Rath, Emma M; Haan, Eric; Blue, Gillian M; Vohra, Jitendra; Atherton, John J; van Spaendonck-Zwarts, Karin; Cox, Kathy; Burnett, Leslie; Wallis, Mathew; Haas, Matilda; Quinn, Michael C J; Pachter, Nicholas; Poplawski, Nicola K; Stark, Zornitza; Bagnall, Richard D; Weintraub, Robert G; Pantaleo, Sarah-Jane; Lunke, Sebastian; De Fazio, Paul; Thompson, Tina; James, Paul; Chang, Yuchen; Fatkin, Diane; Macciocca, Ivan; Ingles, Jodie; Dunwoodie, Sally L; Semsarian, Chris; McGaughran, Julie

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:一项旨在加速基因组学融入医疗保健的五年国家计划的成果

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

Prenatal exposure to diethylstilbestrol has long-lasting, transgenerational impacts on fertility and reproductive development

产前接触己烯雌酚会对生育能力和生殖发育产生持久的跨代影响

Rogers, Rachael E; Chai, Shuyi; Pask, Andrew J; Mattiske, Deidre M

A long non-coding RNA Leat1 mediates the hormone responsiveness of EfnB2 during male urogenital development

长链非编码 RNA Leat1 介导男性泌尿生殖系统发育过程中 EfnB2 的激素反应

Deidre Mattiske, Pascal Bernard, Paul E Gradie, Richard R Behringer, Paul A Overbeek, Rachel J O'Neill, Tiffany Phillips, Gerard Tarulli, Andrew J Pask