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

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

整合乳腺肿瘤同源重组缺陷状态以辅助生殖系 BRCA1 和 BRCA2 变异分类

Fortuno, Cristina; Zhang, Jia; Koufariotis, Lambros T; Hollway, Georgina; Wood, Scott; Pearson, John V; Simpson, Peter T; Lakhani, Sunil R; McCart Reed, Amy E; Thorne, Heather; Mann, G Bruce; Skandarajah, Anita R; Devereux, Lisa; Zhao, Qihong; De Silva, Dilanka L; Lindeman, Geoffrey J; Waring, Paul; James, Paul A; Campbell, Ian; Spurdle, Amanda B; Waddell, Nicola

Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

染色质相关基因的致病变异:将免疫失调与神经退化和急性神经精神疾病联系起来

Dale, Russell C; Mohammad, Shekeeb; Han, Velda X; Nishida, Hiroya; Goel, Himanshu; Tangye, Stuart G; Hollway, Georgina; Tantsis, Esther; Gill, Deepak; Patel, Shrujna

A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

西波利尼西亚一例 IFNAR1 缺乏症病例确定了 DOCK8 中常见的典型剪接位点变异:在代表性不足的祖先中验证意义不明的变异的重要性

Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Geetha Rao, Karrnan Pathmanandavel, Erika Della Mina, Georgina Hollway, Matthew Hobbs, Karen Enthoven, Patrick O'Young, Sam McManus, Luke H Wainwright, Megan Higgins, Fallon Noon, Melanie Wong, Paul Bastard, Qian Zhang, Jean-Lau

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

更正:西波利尼西亚一例新型 IFNAR1 缺陷病例揭示 DOCK8 中常见的典型剪接位点变异:验证代表性不足的祖先中意义不明的变异的重要性

Huynh, Aimee; E Gray, Paul; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; McManus, Sam; H Wainwright, Luke; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; S Ma, Cindy; G Tangye, Stuart

Developing the Diagnostic Interview for Adolescents and Adults with Mild/Moderate Intellectual Disabilities: An interview schedule of mental disorders (DIAAID)

为轻度/中度智力障碍青少年和成人制定诊断访谈:精神障碍访谈量表 (DIAAID)

Sinclair, James; Hollway, Jill A; Sanford, Christopher; Cameto, Renee; Benson, Betsy; Eugene Arnold, L; Seeley, John R

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study

全基因组测序在检测癌症易感变异方面的临床应用价值和成本——一项多中心前瞻性队列研究

Davidson, Aimee L; Dressel, Uwe; Norris, Sarah; Canson, Daffodil M; Glubb, Dylan M; Fortuno, Cristina; Hollway, Georgina E; Parsons, Michael T; Vidgen, Miranda E; Holmes, Oliver; Koufariotis, Lambros T; Lakis, Vanessa; Leonard, Conrad; Wood, Scott; Xu, Qinying; McCart Reed, Amy E; Pickett, Hilda A; Al-Shinnag, Mohammad K; Austin, Rachel L; Burke, Jo; Cops, Elisa J; Nichols, Cassandra B; Goodwin, Annabel; Harris, Marion T; Higgins, Megan J; Ip, Emilia L; Kiraly-Borri, Catherine; Lau, Chiyan; Mansour, Julia L; Millward, Michael W; Monnik, Melissa J; Pachter, Nicholas S; Ragunathan, Abiramy; Susman, Rachel D; Townshend, Sharron L; Trainer, Alison H; Troth, Simon L; Tucker, Katherine M; Wallis, Mathew J; Walsh, Maie; Williams, Rachel A; Winship, Ingrid M; Newell, Felicity; Tudini, Emma; Pearson, John V; Poplawski, Nicola K; Mar Fan, Helen G; James, Paul A; Spurdle, Amanda B; Waddell, Nicola; Ward, Robyn L

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

评估和试点测试一种多学科诊疗模式,以将基因组检测纳入儿童先天性免疫缺陷的主流诊疗。

Yanes, Tatiane; Sullivan, Anna; Barbaro, Pasquale; Brion, Kristian; Hollway, Georgina; Peake, Jane; McNaughton, Peter

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

通过全基因组测序、计算机模拟全外显子组测序和突变谱分析,比较在癌症基因组中检测到的可操作事件。

Ramarao-Milne, P; Kondrashova, O; Patch, A-M; Nones, K; Koufariotis, L T; Newell, F; Addala, V; Lakis, V; Holmes, O; Leonard, C; Wood, S; Xu, Q; Mukhopadhyay, P; Naeini, M M; Steinfort, D; Williamson, J P; Bint, M; Pahoff, C; Nguyen, P T; Twaddell, S; Arnold, D; Grainge, C; Basirzadeh, F; Fielding, D; Dalley, A J; Chittoory, H; Simpson, P T; Aoude, L G; Bonazzi, V F; Patel, K; Barbour, A P; Fennell, D A; Robinson, B W; Creaney, J; Hollway, G; Pearson, J V; Waddell, N

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Shariant平台:促进澳大利亚临床基因检测实验室间的证据共享,以支持变异解读。

Tudini, Emma; Andrews, James; Lawrence, David M; King-Smith, Sarah L; Baker, Naomi; Baxter, Leanne; Beilby, John; Bennetts, Bruce; Beshay, Victoria; Black, Michael; Boughtwood, Tiffany F; Brion, Kristian; Cheong, Pak Leng; Christie, Michael; Christodoulou, John; Chong, Belinda; Cox, Kathy; Davis, Mark R; Dejong, Lucas; Dinger, Marcel E; Doig, Kenneth D; Douglas, Evelyn; Dubowsky, Andrew; Ellul, Melissa; Fellowes, Andrew; Fisk, Katrina; Fortuno, Cristina; Friend, Kathryn; Gallagher, Renee L; Gao, Song; Hackett, Emma; Hadler, Johanna; Hipwell, Michael; Ho, Gladys; Hollway, Georgina; Hooper, Amanda J; Kassahn, Karin S; Krishnaraj, Rahul; Lau, Chiyan; Le, Huong; San Leong, Huei; Lundie, Ben; Lunke, Sebastian; Marty, Anthony; McPhillips, Mary; Nguyen, Lan T; Nones, Katia; Palmer, Kristen; Pearson, John V; Quinn, Michael C J; Rawlings, Lesley H; Sadedin, Simon; Sanchez, Louisa; Schreiber, Andreas W; Sigalas, Emanouil; Simsek, Aygul; Soubrier, Julien; Stark, Zornitza; Thompson, Bryony A; U, James; Vakulin, Cassandra G; Wells, Amanda V; Wise, Cheryl A; Woods, Rick; Ziolkowski, Andrew; Brion, Marie-Jo; Scott, Hamish S; Thorne, Natalie P; Spurdle, Amanda B

Viewing the global health system as a complex adaptive system - implications for research and practice

将全球卫生系统视为一个复杂的适应性系统——对研究和实践的启示

Borghi, Josephine; Ismail, Sharif; Hollway, James; Kim, Rakhyun E; Sturmberg, Joachim; Brown, Garrett; Mechler, Reinhard; Volmink, Heinrich; Spicer, Neil; Chalabi, Zaid; Cassidy, Rachel; Johnson, Jeff; Foss, Anna; Koduah, Augustina; Searle, Christa; Komendantova, Nadejda; Semwanga, Agnes; Moon, Suerie