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

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education

基因组学时代的变异解读培训:以学习成果为基础的专业能力和教育

Nisselle, Amy; Liddicoat, Douglas; Cliffe, Corrina; Gallacher, Lyndon; Martyn, Melissa; Hodgson, Jan; Baker, Naomi L; Beshay, Victoria; Fanjul-Fernandez, Miriam; Fellowes, Andrew P; Lunke, Sebastian; Phelan, Dean G; Roesley, Ain; Stark, Zornitza; Tan, Tiong Yang; Thompson, Bryony; Gaff, Clara L; Thorne, Natalie

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

试点应用解释性外部质量保证模式进行儿童综合征和智力障碍的基因组检测

Lundie, Ben; Chai, Sze Yee; Byrne, Alicia B; Azmanov, Dimitar; Christodoulou, John; Haas, Matilda A; Kassahn, Karin S; Lunke, Sebastian; Stott, Ami; Thompson, Bryony A; Badrick, Tony; Bennetts, Bruce

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study

支持在数字时代大规模开展新生儿基因组筛查的决策:BabyScreen+ 研究

Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; Kanga-Parabia, Anaita; Tutty, Erin; Bombard, Yvonne; Clausen, Marc; Bouffler, Sophie; Gaff, Clara; Archibald, Alison D; Lunke, Sebastian; Stark, Zornitza

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia

澳大利亚两项离散选择实验揭示了公众对新生儿基因组筛查的价值和实施的偏好。

Peters, Riccarda; Best, Stephanie; Lynch, Fiona; Vears, Danya F; Downie, Lilian; Archibald, Alison D; Lunke, Sebastian; Stark, Zornitza; Goranitis, Ilias

Dna2 nuclease resolves RNA:DNA hybrids at double-strand breaks.

Dna2核酸酶可修复双链断裂处的RNA:DNA杂交体

Mojumdar Aditya, Granger Courtney, Lunke Martine, Evans Ellis, Cobb Jennifer A

Development of an inhibitory TTC7B selective nanobody that blocks EFR3 recruitment of PI4KA.

开发一种抑制 TTC7B 的选择性纳米抗体,可阻断 EFR3 募集 PI4KA。

Suresh Sushant, Shaw Alexandria L, Akintola Damilola K, Lunke Martine, Doerr Sophia, Rohilla Pooja, Balla Tamas, Yip Calvin K, Hansen Scott D, Cobb Jennifer A, Burke John E

The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary

PreGen研究项目:在澳大利亚实施产前基因组检测——评述

Long, Sarah; Schofield, Deborah; Kraindler, Josh; Vink, Rebecca; Ross, Kate; Hart, Natalie; Evans, Holly; Wilson, Alyssa; Hyett, Jon; Wakefield, Claire E; Kelada, Lauren; Scott, Hamish; Lunke, Sebastian; Wall, Meaghan; Buckley, Michael F; Fernihough, Gemma; McGillivray, George; Roscioli, Tony

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

BabyScreen+ 基因组新生儿筛查研究的可行性、可接受性和临床结果

Lunke, Sebastian; Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; De Fazio, Paul; Hollizeck, Sebastian; Bouffler, Sophie E; Amor, David J; Archibald, Alison D; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; Fagan, Wendy; Gaff, Clara; Greaves, Ronda F; Gyngell, Christopher; Kanga-Parabia, Anaita; Lang, Nitzan; Lee, Crystle; Lynch, Fiona; Marty, Anthony; Marty, Melanie; McGregor, Candice; Riseley, Jessica; Sadedin, Simon; Scarff, Katrina; da Cunha Torres, Michelle; Tutty, Erin; Vang, Ching; Wall, Meaghan; Wong, Ee Ming; Yeung, Alison; Goranitis, Ilias; Best, Stephanie; Vears, Danya F; Stark, Zornitza