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

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics

快速蛋白质组学证实MRPS22相关线粒体疾病的产前表现

Semcesen, Liana N; Ball, Megan; Hock, Daniella H; Kaye, Juliet; Woods, Aimee; De Jong, Lucas; Christodoulou, John; Thorburn, David R; Compton, Alison G; Stroud, David A; Liebelt, Jan

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

复合物 II 的组装驱动代谢适应氧化磷酸化功能障碍

Kugapreethan Roopasingam, Elahee Doomun Sheik Nadeem, Sacharz Joanna, Frazier Ann E, Sharma Tanavi, Low Yau Chung, Nie Shuai, Leeming Michael G, Muellner-Wong Linden, Last Karena, Stait Tegan, De Souza David P, Thorburn David R, McConville Malcolm J, Stroud David A

Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.

通过空间和单细胞转录组学研究发现,Atf3 控制着女性线粒体心肌病中的转变

Qaqorh Tasneem, Takahashi Yusuke, Sameshima Kohei, Otani Kentaro, Yazawa Issei, Nishida Yuya, Tonai Kohei, Fujihara Yoshitaka, Honda Mizuki, Oki Shinya, Ohkawa Yasuyuki, Thorburn David R, Frazier Ann E, Takeda Atsuhito, Ikeda Yoshihiko, Sakaguchi Heima, Watanabe Takuya, Fukushima Norihide, Tsukamoto Yasumasa, Makita Naomasa, Yamaguchi Osamu, Murayama Kei, Ohtake Akira, Okazaki Yasushi, Kimura Takanari, Kato Hisakazu, Inoue Hijiri, Matsuoka Ken, Takashima Seiji, Shintani Yasunori

Review: Utility of mass spectrometry in rare disease research and diagnosis

综述:质谱技术在罕见病研究和诊断中的应用

Zhao, Teresa; Hock, Daniella H; Pitt, James; Thorburn, David R; Stroud, David A; Christodoulou, John

Therapies for Mitochondrial Disease: Past, Present, and Future

线粒体疾病的治疗:过去、现在和未来

Ball, Megan; van Bergen, Nicole J; Compton, Alison G; Thorburn, David R; Rahman, Shamima; Christodoulou, John

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析,检测出线粒体DNA变异,从而解决了未确诊的病例。

Stenton, Sarah L; Laricchia, Kristen; Lake, Nicole J; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Heir, Emily; Austin-Tse, Christina; O'Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G; Bujakowska, Kinga M; Campagna, Dean R; Compton, Alison G; Donkervoort, Sandra; Fleming, Mark D; Gallacher, Lyndon; Gleeson, Joseph G; Haliloglu, Goknur; Pierce, Eric A; Place, Emily M; Sankaran, Vijay G; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R; White, Susan M; Zaki, Maha S; Vilain, Eric; Lek, Monkol; Rehm, Heidi L; O'Donnell-Luria, Anne

Public funding for mitochondrial donation: An Australian public deliberation

线粒体捐赠的公共资金:澳大利亚公众审议

Newson, Ainsley J; Williams, Jane; Fuscaldo, Giuliana; Hill, Ashleigh; Kneebone, Ezra; Ludlow, Karinne; Mills, Catherine; Munsie, Megan; Norris, Sarah; Scuffham, Paul; Sutton, Liz; Thorburn, David R; Degeling, Chris

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

Quantifying constraint in the human mitochondrial genome

量化人类线粒体基因组的约束

Lake, Nicole J; Ma, Kaiyue; Liu, Wei; Battle, Stephanie L; Laricchia, Kristen M; Tiao, Grace; Puiu, Daniela; Ng, Kenneth K; Cohen, Justin; Compton, Alison G; Cowie, Shannon; Christodoulou, John; Thorburn, David R; Zhao, Hongyu; Arking, Dan E; Sunyaev, Shamil R; Lek, Monkol