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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

The gE/gI complex is necessary for kinesin-1 recruitment during alphaherpesvirus egress from neurons.

gE/gI 复合物是 α-疱疹病毒从神经元逸出过程中 kinesin-1 募集所必需的

Diwaker Drishya, Kim DongHo, Cordova-Martinez Dylann, Pujari Nivedita, Jordan Bryen A, Smith Gregory A, Wilson Duncan W

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

TNNT2 中一种罕见的剪接位点变异:基因组参考数据集需要祖先多样性

Butters, Alexandra; Thomson, Kate; Harrington, Franki; Henden, Natasha; McGuire, Karen; Byrne, Alicia B; Bryen, Samantha; McGurk, Kathryn A; Leask, Megan; Ackerman, Michael J; Atherton, John; Bos, Johan M; Caleshu, Colleen; Day, Sharlene M; Dunn, Kyla; Hayes, Ian; Juang, Jimmy; McGaughran, Julie; Nowak, Natalie; Parikh, Victoria N; Ronan, Anne; Semsarian, Christopher; Tardiff, Jil C; Tiemensma, Marianne; Merriman, Tony R; Ware, James S; Skinner, Jonathan R; MacArthur, Daniel G; Siggs, Owen M; Bagnall, Richard D; Ingles, Jodie

Using team-based precision medicine to advance understanding of rare genetic brain disorders

利用团队协作的精准医疗技术,增进对罕见遗传性脑疾病的了解

Walkley, Steven U; Molholm, Sophie; Jordan, Bryen; Marion, Robert W; Wasserstein, Melissa

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

基因组和RNA测序将神经肌肉疾病的诊断率从仅使用外显子组测序的34%提高到62%。

Marchant, Rhett G; Bryen, Samantha J; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R; Corbett, Alastair; Davis, Mark R; Ganesh, Vijay S; Ghaoui, Roula; Jones, Kristi J; Kornberg, Andrew J; Lek, Monkol; Liang, Christina; MacArthur, Daniel G; Oates, Emily C; O'Donnell-Luria, Anne; O'Grady, Gina L; Osei-Owusu, Ikeoluwa A; Rafehi, Haloom; Reddel, Stephen W; Roxburgh, Richard H; Ryan, Monique M; Sandaradura, Sarah A; Scott, Liam W; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J; Waddell, Leigh B; Cooper, Sandra T

SpliceVault predicts the precise nature of variant-associated mis-splicing

SpliceVault 预测变异相关错误剪接的精确性质

Ruebena Dawes #, Adam M Bournazos #, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper

ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function.

ANKS1B 编码的 AIDA-1 通过控制少突胶质细胞功能来调节社会行为

Cho Chang Hoon, Deyneko Ilana Vasilisa, Cordova-Martinez Dylann, Vazquez Juan, Maguire Anne S, Diaz Jenny R, Carbonell Abigail U, Tindi Jaafar O, Cui Min-Hui, Fleysher Roman, Molholm Sophie, Lipton Michael L, Branch Craig A, Hodgson Louis, Jordan Bryen A

Comparing synaptic proteomes across five mouse models for autism reveals converging molecular similarities including deficits in oxidative phosphorylation and Rho GTPase signaling

比较五种自闭症小鼠模型的突触蛋白质组,发现分子相似性趋于一致,包括氧化磷酸化和 Rho GTPase 信号传导的缺陷

Abigail U Carbonell, Carmen Freire-Cobo, Ilana V Deyneko, Saunil Dobariya, Hediye Erdjument-Bromage, Amy E Clipperton-Allen, Damon T Page, Thomas A Neubert, Bryen A Jordan

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

两个家族中的结缔组织表现扩大了 PYROXD1 疾病的表型谱

Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper