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

PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development

PKD1 5'UTR变异是ADPKD中一种罕见的致病因素,提示了治疗研发的新方向。

Wedd, Laura; Hort, Yvonne; Patel, Chirag; Sayer, John A; Rius, Rocio; Mallett, Andrew J; Cottle, Denny L; Smyth, Ian M; Furlong, Timothy; Shine, John; Mallawaarachchi, Amali

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

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

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study

针对病因不明的肾衰竭患者的基因组检测:一项澳大利亚全国性研究

Mallawaarachchi, Amali C; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O'Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; MacShane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

通过对人类肾囊肿进行深度测序,揭示了常染色体显性多囊肾病中的体细胞突变

Mallawaarachchi, Amali C; Hort, Yvonne; Wedd, Laura; Lo, Kitty; Senum, Sarah; Toumari, Mojgan; Chen, Wenhan; Utsiwegota, Mike; Mawson, Jane; Leslie, Scott; Laurence, Jerome; Anderson, Lyndal; Snelling, Paul; Salomon, Robert; Rangan, Gopala K; Furlong, Timothy; Shine, John; Cowley, Mark J

What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability

基因组学多学科团队方法的优势何在?一项关于其实施和可持续性的系统性综述

Ma, Alan; O'Shea, Rosie; Wedd, Laura; Wong, Claire; Jamieson, Robyn V; Rankin, Nicole

Utility of Lille Score in Predicting 30-Day Survival in Steroid-Treated Alcohol-Associated Hepatitis

里尔评分在预测类固醇治疗的酒精性肝炎患者30天生存率中的应用

Healey, Marcus A; Ramalingam, Geetha; Hang, Yiwei; Smirnova, Ekaterina; Asgharpour, Amon; Patel, Vaishali; Lee, Hannah; Luketic, Velimir; Matherly, Scott; Siddiqui, Mohammad; Wedd, Joel; Sanyal, Arun; Sterling, Richard K

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

非编码剪接体snRNA基因RNU4-2的新生变异是综合征性神经发育障碍的常见病因。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Stenton, Sarah L; Walker, Susan; Ljungdahl, Alicia; Lord, Jenny; Ganesh, Vijay S; Ma, Jialan; Martin-Geary, Alexandra C; Lemire, Gabrielle; D'Souza, Elston N; Dong, Shan; Ellingford, Jamie M; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Evans, Carey-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Grant, Christina L; Haack, Tobias; Kuechler, Alma; Lalani, Seema R; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Maurer, Taylor M; Mendez, Hector R; Montgomery, Stephen B; Nassogne, Marie-Cécile; Neumann, Serena; O'Leary, Melanie; Palmer, Elizabeth E; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; Clair, Laura; Stark, Zornitza; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna El; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna Mm; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

PKD1基因中的非典型剪接变异解释了大多数未确诊的典型家族性ADPKD病例。

Hort, Yvonne; Sullivan, Patricia; Wedd, Laura; Fowles, Lindsay; Stevanovski, Igor; Deveson, Ira; Simons, Cas; Mallett, Andrew; Patel, Chirag; Furlong, Timothy; Cowley, Mark J; Shine, John; Mallawaarachchi, Amali