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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Regional nonsense constraint offers biological and clinical insights into genetic disease

区域性无义突变约束为遗传疾病的生物学和临床研究提供了重要见解。

Blakes, Alexander J M; Whiffin, Nicola; Johnson, Colin A; Ellingford, Jamie M; Banka, Siddharth

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

出版商更正:对R环形成区域的分析表明,RNU2-2和RNU5B-1是神经发育障碍基因。

Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok; Redman, Melody; Rius, Rocio; Simons, Cas; Tan, Tiong Yang; Ellingford, Jamie; O'Keefe, Raymond T; Chae, Jong Hee; Banka, Siddharth

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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

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

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