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

Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders

作者更正:复杂的新生结构变异是罕见疾病的一个被低估的原因。

Jung, Hyunchul; Yang, Tsun-Po; Walker, Susan; Danecek, Petr; Garcia-Salinas, O Isaac; Neville, Matthew D C; Christopher, Joseph; Cortés-Ciriano, Isidro; Firth, Helen; Scally, Aylwyn; Hurles, Matthew; Campbell, Peter; Rahbari, Raheleh

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study

通过外显子组测序进行拷贝数变异分析是优化发育障碍诊断率的有效方法——DDD-Africa 研究

Louw, Nadja; Makay, Prince; Mpangase, Phelelani T; Naicker, Thirona; Yates, Laura M; Honey, Engela; Mbungu, Gerrye; Van Den Bogaert, Kris; Firth, Helen V; Hurles, Matthew E; Tshilobo, Prosper Lukusa; Devriendt, Koen; Krause, Amanda; Carstens, Nadia; Lumaka, Aimé; Lombard, Zané

Complex de novo structural variants are an underestimated cause of rare disorders

复杂的新生结构变异是罕见疾病的一个被低估的原因。

Jung, Hyunchul; Yang, Tsun-Po; Walker, Susan; Danecek, Petr; Garcia-Salinas, O Isaac; Neville, Matthew D C; Christopher, Joseph; Cortés-Ciriano, Isidro; Firth, Helen; Scally, Aylwyn; Hurles, Matthew; Campbell, Peter; Rahbari, Raheleh

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders

研究早产与遗传变异在罕见发育障碍中的相互作用

Wootton, Olivia; Campbell, Patrick; Richardson, Sarah; Lindsay, Sarah J; Huang, Qin Qin; Delage, Erwan; Amanat, Sana; Wong, Hilary S; Firth, Helen V; Hurles, Matthew E; Simpson, Michael A; Radford, Elizabeth J; Martin, Hilary C

Sperm sequencing reveals extensive positive selection in the male germline

精子测序揭示了男性生殖细胞系中广泛的正向选择

Neville, Matthew D C; Lawson, Andrew R J; Sanghvi, Rashesh; Abascal, Federico; Pham, My H; Cagan, Alex; Nicola, Pantelis A; Bayzetinova, Tetyana; Baez-Ortega, Adrian; Roberts, Kirsty; Lensing, Stefanie V; Widaa, Sara; Alcantara, Raul E; García, María Paz; Wadge, Sam; Stratton, Michael R; Campbell, Peter J; Small, Kerrin; Martincorena, Iñigo; Hurles, Matthew E; Rahbari, Raheleh

Examining the role of common variants in rare neurodevelopmental conditions

研究常见变异在罕见神经发育障碍中的作用

Huang, Qin Qin; Wigdor, Emilie M; Malawsky, Daniel S; Campbell, Patrick; Samocha, Kaitlin E; Chundru, V Kartik; Danecek, Petr; Lindsay, Sarah; Marchant, Thomas; Koko, Mahmoud; Amanat, Sana; Bonfanti, Davide; Sheridan, Eamonn; Radford, Elizabeth J; Barrett, Jeffrey C; Wright, Caroline F; Firth, Helen V; Warrier, Varun; Strudwick Young, Alexander; Hurles, Matthew E; Martin, Hilary C

Genetic links between ovarian ageing, cancer risk and de novo mutation rates

卵巢衰老、癌症风险和新生突变率之间的遗传联系

Stankovic, Stasa; Shekari, Saleh; Huang, Qin Qin; Gardner, Eugene J; Ivarsdottir, Erna V; Owens, Nick D L; Mavaddat, Nasim; Azad, Ajuna; Hawkes, Gareth; Kentistou, Katherine A; Beaumont, Robin N; Day, Felix R; Zhao, Yajie; Jonsson, Hakon; Rafnar, Thorunn; Tragante, Vinicius; Sveinbjornsson, Gardar; Oddsson, Asmundur; Styrkarsdottir, Unnur; Gudmundsson, Julius; Stacey, Simon N; Gudbjartsson, Daniel F; Kennedy, Kitale; Wood, Andrew R; Weedon, Michael N; Ong, Ken K; Wright, Caroline F; Hoffmann, Eva R; Sulem, Patrick; Hurles, Matthew E; Ruth, Katherine S; Martin, Hilary C; Stefansson, Kari; Perry, John R B; Murray, Anna

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

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

BAP1的饱和基因组编辑可对体细胞和种系变异进行功能分类

Andrew J Waters,Timothy Brendler-Spaeth #,Danielle Smith #,Victoria Offord,Hong Kee Tan,Yajie Zhao,Sofia Obolenski,Maartje Nielsen,Remco van Doorn,Jo-Ellen Murphy,Prashant Gupta,Charlie F Rowlands,Helen Hanson,Erwan Delage,Mark Thomas,Elizabeth J Radford  ,Sebastian S Gerety,Clare Turnbull    ,John R B Perry,Matthew E Hurles,David J Adams

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C