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

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

对 8040 名未确诊的罕见病患者进行系统性致病启动子和非翻译区变异的鉴定

Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Candler, Toby; Firth, Helen; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola

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

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

5'非翻译区的差异凸显了剂量敏感基因翻译调控的重要性

Wieder, Nechama; D'Souza, Elston N; Martin-Geary, Alexandra C; Lassen, Frederik H; Talbot-Martin, Jonathan; Fernandes, Maria; Chothani, Sonia P; Rackham, Owen J L; Schafer, Sebastian; Aspden, Julie L; MacArthur, Daniel G; Davies, Robert W; Whiffin, Nicola

Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants

非编码变异是与编码变异同时导致隐性遗传发育障碍的罕见原因。

Lord, Jenny; Oquendo, Carolina J; Wai, Htoo A; Holloway, John G; Martin-Geary, Alexandra; Blakes, Alexander J M; Arciero, Elena; Domcke, Silvia; Childs, Anne-Marie; Low, Karen; Rankin, Julia; Baralle, Diana; Martin, Hilary C; Whiffin, Nicola

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

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

对 8,040 名未确诊的罕见病患者进行系统性疾病致病启动子和非翻译区变异的鉴定

Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola