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

Comprehensive androgen-dependent transcriptome analysis in human genital tissue

人类生殖组织中雄激素依赖性转录组的全面分析

Sivaprasad, Radhika; Händler, Kristian; Caliebe, Almuth; Spielmann, Malte; Holterhus, Paul-Martin; Hornig, Nadine C

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

评估基因组测序策略:罕见病诊断中的三联体、单例和标准检测

Kaschta, Daniel; Post, Christina; Gaass, Franziska; Al-Tawil, Milad; Arriens, Vincent; Balachandran, Saranya; Bäumer, Tobias; Berge, Valerie; Birgel, Friederike; Dalski, Andreas; Dittmar, Maike; Franke, Andre; Franzenburg, Sören; Fuß, Janina; Gehring, Bettina; Gembicki, Rebecca; Greiten, Bianca; Grohte, Kristin; Hanker, Britta; Händler, Kristian; Harder, Lana; Hellenbroich, Yorck; Herget, Theresia; Herrmann, Gloria; Hiort, Olaf; Hoff, Kirstin; Hoffmann, Birga; Hornig, Nadine; Hüning, Irina; Kautza-Lucht, Monika; Köhler, Juliane; Liegmann, Anna-Sophie; Lisfeld, Jasmin; Löscher, Britt-Sabina; Margraf, Nils G; Meyenborg, Michelle; Möllring, Anna; Muhle, Hiltrud; Penas, Eva Maria Murga; Nommels, Henning; Papingi, Dzhoy; Poggenburg, Imke; Pozojevic, Jelena; Rosenstiel, Philip; Recke, Andreas; Roberts, Kimberly; Rösler, Laelia; Rust, Franka; Salewski, Maj-Britt; Schau-Römer, Katharina; Schlein, Christian; Sreenivasan, Varun K A; Toutouna, Louiza; Utermann-Thüsing, Caroline; van der Ven, Amelie T; Volk, Alexander E; Wehnert, Janne; Wilson, Sandra; Woitschach, Rixa; Yumiceba, Veronica; Zühlke, Christine; Münchau, Alexander; Brüggemann, Norbert; Vater, Inga; Caliebe, Almuth; Nagel, Inga; Spielmann, Malte

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

病例报告:复发性葡萄膜环黑色素瘤侵袭性病例中的GNAQ和SF3B1突变

Prasuhn, Michelle; Freitag, Josephine Christin; Lüken, Sabine; Kakkassery, Vinodh; Merz, Hartmut; Caliebe, Almuth; Spielmann, Malte; Ranjbar, Mahdy; Rommel, Felix

Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma

具有 11q 异常模式的侵袭性 B 细胞淋巴瘤病例表明,其疾病谱不仅限于伯基特样淋巴瘤。

Gebauer, Niklas; Witte, Hanno M; Merz, Hartmut; Oschlies, Ilske; Klapper, Wolfram; Caliebe, Almuth; Tharun, Lars; Spielmann, Malte; von Bubnoff, Nikolas; Feller, Alfred C; Murga Penas, Eva M

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

基因组变异的整合分析揭示了候选单倍体不足基因与先天性心脏病的新关联

Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M G; Fitzgerald, Tomas W; Kahlert, Anne-Karin; Sifrim, Alejandro; Wünnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S; Benson, D Woodrow; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers Ef; Garg, Vidu; Hackmann, Karl; Hoff, Kirstin; Hofmann, Philipp; Dombrowsky, Gregor; Pickardt, Thomas; Bauer, Ulrike; Keavney, Bernard D; Klaassen, Sabine; Kramer, Hans-Heiner; Marshall, Christian R; Milewicz, Dianna M; Lemaire, Scott; Coselli, Joseph S; Mitchell, Michael E; Tomita-Mitchell, Aoy; Prakash, Siddharth K; Stamm, Karl; Stewart, Alexandre F R; Silversides, Candice K; Siebert, Reiner; Stiller, Brigitte; Rosenfeld, Jill A; Vater, Inga; Postma, Alex V; Caliebe, Almuth; Brook, J David; Andelfinger, Gregor; Hurles, Matthew E; Thienpont, Bernard; Larsen, Lars Allan; Hitz, Marc-Phillip

Genome sequencing in families with congenital limb malformations

对患有先天性肢体畸形的家族进行基因组测序

Elsner, Jonas; Mensah, Martin A; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie; de Silva, Deepthi C; Elçioglu, Nursel; Filges, Isabel; Gerkes, Erica; Girisha, Katta M; Graul-Neumann, Luitgard; Jamsheer, Aleksander; Krawitz, Peter; Kurth, Ingo; Markus, Susanne; Megarbane, Andre; Reis, André; Reuter, Miriam S; Svoboda, Daniel; Teller, Christopher; Tuysuz, Beyhan; Türkmen, Seval; Wilson, Meredith; Woitschach, Rixa; Vater, Inga; Caliebe, Almuth; Hülsemann, Wiebke; Horn, Denise; Mundlos, Stefan; Spielmann, Malte

A Giant Mammary Hamartoma in a Young Breast Cancer Patient

年轻乳腺癌患者的巨大乳腺错构瘤

Rumpf, Anna-Lena; Mathiak, Micaela; Schäfer, Fritz K; Caliebe, Almuth; Farrokh, Andre; Elessawy, Mohamed; Bauerschlag, Dirk O; Maass, Nicolai; van Mackelenbergh, Marion; Heilmann, Thorsten

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

BRCA1和BRCA2基因组结构域与前列腺癌风险和侵袭性的关联

Patel, Vivek L; Busch, Evan L; Friebel, Tara M; Cronin, Angel; Leslie, Goska; McGuffog, Lesley; Adlard, Julian; Agata, Simona; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Artioli, Grazia; Arver, Brita; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R; Barroso, Alicia; Barrowdale, Daniel; Belotti, Muriel; Benitez, Javier; Bertelsen, Birgitte; Blok, Marinus J; Bodrogi, Istvan; Bonadona, Valérie; Bonanni, Bernardo; Bondavalli, Davide; Boonen, Susanne E; Borde, Julika; Borg, Ake; Bradbury, Angela R; Brady, Angela; Brewer, Carole; Brunet, Joan; Buecher, Bruno; Buys, Saundra S; Cabezas-Camarero, Santiago; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Campbell, Ian G; Carnevali, Ileana; Carrasco, Estela; Chan, Tsun L; Chu, Annie T W; Chung, Wendy K; Claes, Kathleen B M; Collaborators, Gemo Study; Collaborators, Embrace; Cook, Jackie; Cortesi, Laura; Couch, Fergus J; Daly, Mary B; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; Puppa, Lara Della; Dennis, Joe; Díez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Donaldson, Alan; Dworniczak, Bernd; Easton, Douglas F; Eccles, Diana M; Eeles, Rosalind A; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Evans, D Gareth; Faivre, Laurence; Faust, Ulrike; Feliubadaló, Lídia; Foretova, Lenka; Fostira, Florentia; Fountzilas, George; Frost, Debra; García-Barberán, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Géczi, Lajos; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gutierrez-Barrera, Angelica M; Hahnen, Eric; Hamann, Ute; Hauke, Jan; Herold, Natalie; Hogervorst, Frans B L; Honisch, Ellen; Hopper, John L; Hulick, Peter J; Investigators, KConFab; Investigators, Hebon; Izatt, Louise; Jager, Agnes; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; Jensen, Thomas Dyrso; Johannsson, Oskar Th; John, Esther M; Joseph, Vijai; Kang, Eunyoung; Kast, Karin; Kiiski, Johanna I; Kim, Sung-Won; Kim, Zisun; Ko, Kwang-Pil; Konstantopoulou, Irene; Kramer, Gero; Krogh, Lotte; Kruse, Torben A; Kwong, Ava; Larsen, Mirjam; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Lee, Jihyoun; Lee, Jong Won; Lee, Min Hyuk; Lemke, Johannes; Lesueur, Fabienne; Liljegren, Annelie; Lindblom, Annika; Llovet, Patricia; Lopez-Fernández, Adria; Lopez-Perolio, Irene; Lorca, Victor; Loud, Jennifer T; Ma, Edmond S K; Mai, Phuong L; Manoukian, Siranoush; Mari, Veronique; Martin, Lynn; Matricardi, Laura; Mebirouk, Noura; Medici, Veronica; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Miller, Clare; Gomes, Denise Molina; Montagna, Marco; Mooij, Thea M; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Mulligan, Anna Marie; Nathanson, Katherine L; Navratilova, Marie; Nevanlinna, Heli; Niederacher, Dieter; Nielsen, Finn C Cilius; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Ong, Kai-Ren; Osorio, Ana; Ott, Claus-Eric; Palli, Domenico; Park, Sue K; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Pérez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth Høgh; Porteous, Mary E; Pujana, Miguel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rashid, Muhammad U; Rhiem, Kerstin; Rizzolo, Piera; Robson, Mark E; Rookus, Matti A; Rossing, Caroline M; Ruddy, Kathryn J; Santos, Catarina; Saule, Claire; Scarpitta, Rosa; Schmutzler, Rita K; Schuster, Hélène; Senter, Leigha; Seynaeve, Caroline M; Shah, Payal D; Sharma, Priyanka; Shin, Vivian Y; Silvestri, Valentina; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Snape, Katie; Solano, Angela R; Soucy, Penny; Southey, Melissa C; Spurdle, Amanda B; Steele, Linda; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Stradella, Agostina; Sunde, Lone; Sutter, Christian; Tan, Yen Y; Teixeira, Manuel R; Teo, Soo Hwang; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tommasi, Stefania; Torres, Diana; Toss, Angela; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Baan, Frederieke H; van der Kolk, Lizet E; van der Luijt, Rob B; van Hest, Liselotte P; Varesco, Liliana; Varon-Mateeva, Raymonda; Viel, Alessandra; Vierstraete, Jeroen; Villa, Roberta; von Wachenfeldt, Anna; Wagner, Philipp; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N; Wieme, Greet; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zorn, Kristin K; D'Amico, Anthony V; Freedman, Matthew L; Pomerantz, Mark M; Chenevix-Trench, Georgia; Antoniou, Antonis C; Neuhausen, Susan L; Ottini, Laura; Nielsen, Henriette Roed; Rebbeck, Timothy R