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

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

双等位基因 GLTP 突变通过破坏表皮葡糖基神经酰胺的转运,导致非综合征性表皮分化障碍。

Zhang Zeqiao, Huang Shimiao, Jackson Adam, Jones Elizabeth A, Banka Siddharth, Yang Chao, Zhao Sisi, Lv Kunlun, Peng Sha, Lin Zhimiao, Wang Huijun

Nectin-4 PET for predicting enfortumab vedotin dose-response in urothelial carcinoma.

Nectin-4 PET 用于预测 enfortumab vedotin 在尿路上皮癌中的剂量反应。

Mishra Akhilesh, Sharma Ajay Kumar, Gupta Kuldeep, Banka Dhanush S, Johnson Burles A, Hoffman-Censits Jean, Huang Peng, McConkey David J, Nimmagadda Sridhar

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders

评估DNA甲基化表观遗传特征作为疑似遗传疾病患者的一线诊断测试

Tkemladze, Tinatin; Campbell, Christopher; Bregvadze, Kakha; Kvaratskhelia, Eka; Abzianidze, Elene; Demain, Leigh; Jenkinson, Sarah; Hilton, Sarah; Levy, Michael; Kerkhof, Jennifer; Gokhale, David; Sadikovic, Bekim; Banka, Siddharth

Platelet-rich fibrin matrix as treatment for complex anal fistulae: A 3-year experience at a tertiary centre

富血小板纤维蛋白基质治疗复杂性肛瘘:一家三级中心三年的经验

Lusilla Lopez, Alejandro; Fält, Ursula Aho; Buchwald, Pamela; Johnson, Louis Banka; Grip, Olof

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

ACTB 和 ACTG1 相关非肌肉肌动蛋白病中的分子基因型-表型相关性

Di Donato, Nataliya; Thom, Andrew; Rump, Andreas; Greve, Johannes N; Cadiñanos, Juan; Calabrò, Rocco Salvatore; Cathey, Sara; Chung, Brian; Cope, Heidi; Costales, Maria; Cuvertino, Sara; Dinkel, Philine; Erripi, Kalliopi; Fry, Andrew E; Garavelli, Livia; Hoffjan, Sabine; Janzarik, Wibke G; Kreimer, Insa; Mancini, Grazia; Marin-Reina, Purificacion; Meinhardt, Andrea; Niehaus, Indra; Pilz, Daniela; Ricca, Ivana; Simarro, Fernando Santos; Schrock, Evelin; Marquardt, Anja; Taft, Manuel H; Tezcan, Kamer; Thunström, Sofia; Verhagen, Judith; Verloes, Alain; Wollnik, Bernd; Krawitz, Peter; Hsieh, Tzung-Chien; Seifert, Michael; Heide, Michael; Lawrence, Catherine B; Roberts, Neil A; Manstein, Dietmar J; Woolf, Adrian S; Banka, Siddharth

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh