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

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

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

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

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

Detection and characterization of copy-number variants from exome sequencing in the DDD study

在 DDD 研究中,通过外显子组测序检测和表征拷贝数变异

Danecek, Petr; Gardner, Eugene J; Fitzgerald, Tomas W; Gallone, Giuseppe; Kaplanis, Joanna; Eberhardt, Ruth Y; Wright, Caroline F; Firth, Helen V; Hurles, Matthew E

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

英国和爱尔兰罕见儿科疾病的基因组诊断

Wright, Caroline F; Campbell, Patrick; Eberhardt, Ruth Y; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J; Chundru, V Kartik; Lindsay, Sarah J; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E; Middleton, Anna; Foreman, Julia; Hobson, Rachel J; Parker, Michael J; Martin, Hilary C; FitzPatrick, David R; Hurles, Matthew E; Firth, Helen V

Somatic mutations alter the differentiation outcomes of iPSC-derived neurons

体细胞突变会改变iPSC衍生神经元的分化结果

Puigdevall, Pau; Jerber, Julie; Danecek, Petr; Castellano, Sergi; Kilpinen, Helena

Genetic and chemotherapeutic influences on germline hypermutation

遗传和化学疗法对生殖细胞高频突变的影响

Kaplanis, Joanna; Ide, Benjamin; Sanghvi, Rashesh; Neville, Matthew; Danecek, Petr; Coorens, Tim; Prigmore, Elena; Short, Patrick; Gallone, Giuseppe; McRae, Jeremy; Carmichael, Jenny; Barnicoat, Angela; Firth, Helen; O'Brien, Patrick; Rahbari, Raheleh; Hurles, Matthew

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

人类诱导性多能干细胞中大量的体细胞基因组变异和 BCOR 突变的选择

Foad J Rouhani #, Xueqing Zou #, Petr Danecek #, Cherif Badja, Tauanne Dias Amarante, Gene Koh, Qianxin Wu, Yasin Memari, Richard Durbin, Inigo Martincorena, Andrew R Bassett, Daniel Gaffney, Serena Nik-Zainal