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

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

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

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距:外显子组阴性智力障碍队列的基因组、表观遗传特征、长读长测序和卫生经济学分析

Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Adès, Lesley C; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J; Pérez-Jurado, Luis A; Krzesinski, Emma; Hunter, Matthew F; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W; Cliffe, Corrina; Elakis, George; Kirk, Edwin P; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J; Field, Michael; Sadikovic, Bekim; Buckley, Michael F; O'Donnell-Luria, Anne; Roscioli, Tony

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

Weight of evidence for cross-species conservation of androgen receptor-based biological activity

跨物种保守的雄激素受体生物活性的证据权重

Vliet, Sara M F; Markey, Kristan J; Lynn, Scott G; Adetona, Anna; Fallacara, Dawn; Ceger, Patricia; Choksi, Neepa; Karmaus, Agnes L; Watson, AtLee; Ewans, Andrew; Daniel, Amber B; Hamm, Jonathan; Vitense, Kelsey; Wolf, Kaitlyn A; Thomas, Amy; LaLone, Carlie A

International Undiagnosed Diseases Programs (UDPs): components and outcomes

国际未确诊疾病项目(UDP):组成部分和成果

Curic, Ela; Ewans, Lisa; Pysar, Ryan; Taylan, Fulya; Botto, Lorenzo D; Nordgren, Ann; Gahl, William; Palmer, Elizabeth Emma

'Building bridges': reflections and recommendations for co-producing health research

“搭建桥梁”:关于共同开展健康研究的思考与建议

Papageorgiou, Vasiliki; Dewa, Lindsay H; Bruton, Jane; Murray, Keitumetse-Kabelo; Hewlett, Nick; Thamm, Wezi; Hamza, Husseina; Frumiento, Pino; Steward, Robyn; Bradshaw, Melissa; Brooks-Hall, Ellie; Petretti, Silvia; Ewans, Sarah; Williams, Mark; Chapko, Dorota

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

孟德尔遗传病的全外显子组和全基因组测序:诊断和卫生经济学分析

Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony