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

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects

NOTCH1 变异体的 DNA 甲基化分析揭示了非综合征型先天性心脏缺陷的首个表观遗传特征

Dombrowsky, Gregor; van der Laan, Liselot; Silva, Ananília; Breckpot, Jeroen; Audain, Enrique; Wilsdon, Anna; Levy, Michael A; Vos, Niels; Mannens, Marcel; Wang, Jiao; Jain, Anjali; Lesurf, Robert; Winlaw, David; Bezzina, Connie R; Thomas, Mary Ann; Caliebe, Almuth; Klaassen, Sabine; Berger, Felix; Dittrich, Sven; Stiller, Brigitte; Abdul-Khaliq, Hashim; Dähnert, Ingo; Bu'Lock, Frances; Loughna, Siobhan; Brook, J David; Mital, Seema; Russell, Robert B; Pickardt, Thomas; Bauer, Ulrike; Kramer, Hans-Heiner; Uebing, Anselm; Henneman, Peter; Sadikovic, Bekim; Postma, Alex; Hitz, Marc-Phillip

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

Notch3 is an asymmetric gene and a modifier of heart looping defects in Nodal mouse mutants

Notch3 是一个不对称基因,也是 Nodal 小鼠突变体心脏环化缺陷的修饰因子。

Bønnelykke, Tobias Holm; Chabry, Marie-Amandine; Perthame, Emeline; Dombrowsky, Gregor; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Desgrange, Audrey; Meilhac, Sigolène M

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family

病例报告:杂合ADAR c.3019G>A致病变异与四代家族中不同的神经系统症状和不完全外显率相关

Bauer, Ann-Kathrin; Marquardt, Iris; Sundermann, Benedikt; Wolf, Christine; Raupach, Katrin; Grundmann-Hauser, Kathrin; Gieldon, Laura; Otterbach, Maximilian; Maurer, Martin; Haack, Tobias; Lee-Kirsch, Min Ae; Korenke, Georg-Christoph; Hitz, Marc-Phillip

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

细胞周期蛋白依赖性激酶 13 对小鼠心脏的正常发育至关重要

Waheed-Ullah Qazi, Wilsdon Anna, Abbad Aseel, Rochette Sophie, Bu'Lock Frances, Saed Asma Ali, Hitz Marc-Phillip, Brook J David, Loughna Siobhan

Current and future diagnostics of congenital heart disease (CHD)

先天性心脏病(CHD)的当前和未来诊断

Hitz, Marc-Phillip; Dombrowsky, Gregor; Melnik, Nico; Vey, Chiara

A validated heart-specific model for splice-disrupting variants in childhood heart disease

已验证的针对儿童心脏病中剪接破坏性变异的心脏特异性模型

Lesurf, Robert; Breckpot, Jeroen; Bouwmeester, Jade; Hanafi, Nour; Jain, Anjali; Liang, Yijing; Papaz, Tanya; Lougheed, Jane; Mondal, Tapas; Alsalehi, Mahmoud; Altamirano-Diaz, Luis; Oechslin, Erwin; Audain, Enrique; Dombrowsky, Gregor; Postma, Alex V; Woudstra, Odilia I; Bouma, Berto J; Hitz, Marc-Phillip; Bezzina, Connie R; Blue, Gillian M; Winlaw, David S; Mital, Seema

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

STIGMA:利用机器学习进行单细胞组织特异性基因优先级排序

Balachandran, Saranya; Prada-Medina, Cesar A; Mensah, Martin A; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K A; Spielmann, Malte

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

STIGMA:利用机器学习进行单细胞组织特异性基因优先级排序

Balachandran, Saranya; Prada-Medina, Cesar A; Mensah, Martin A; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K A; Spielmann, Malte

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

蛋白激酶PRKD1缺失对小鼠胚胎心脏发育的影响

Qazi Waheed-Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Marc-Phillip Hitz, Gregor Dombrowsky, Friederike Cuello, J David Brook, Siobhan Loughna