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

Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant

由新型半合子DMD插入缺失变异引起的肌营养不良蛋白缺乏性心肌病

Albrecht, Kathryn; Averbuch, Tauben; Huculak, Cathleen; Marcadier, Julien; Oudit, Gavin; van Landeghem, Frank K H; Adam, Benjamin; Lyons, Kristin J; Kiamanesh, Omid

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

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome

探索RBFOX2单倍体功能不全:与左心发育不全综合征的新遗传联系

Sauvestre, Clément; Bouchatal, Amel; Beneteau, Claire; Michaud, Vincent; Blanc, Pierre; Bouvagnet, Patrice; Chung, Wendy K; Marcadier, Julien; Thomas, Mary Ann; Karstensen, Helena Gásdal; Born, Alfred Peter; Breen, Catherine; Xiong, Shiyi; Ades, Lesley C; Dixit, Abhijit; Fradin, Mélanie; Rooryck, Caroline

To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals

是否进行基因检测?一项旨在了解中等风险人群基因检测决策和偏好的最佳-最差尺度研究方案

Oedingen, Carina; Hua, Nicolle; MacDonald, Karen V; Marcadier, Julien; Perrier, Renee; Tuer, Lindsay; McInnes, Brenda; Bernier, Francois; Marshall, Deborah A

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy

两名兄弟姐妹因LMOD2基因突变而早逝,该基因突变是近期发现的新生儿扩张型心肌病病因。

Greenway, Steven C; Fruitman, Deborah; Ferrier, Raechel; Huculak, Cathleen; Marcadier, Julien; Sergi, Consolato; Bernier, Francois P

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

第二组 CHD3 患者进一步拓展了已知的导致 Snijders-Blok-Campeau 综合征的分子机制。

Drivas, Theodore G; Li, Dong; Nair, Divya; Alaimo, Joseph T; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E Martina; Bertsch, Nicole L; Blackburn, Patrick R; Blesson, Alyssa; Bouman, Arjan M; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E; Gunderson, Lauren B; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L; Milunsky, Jeff M; Napier, Melanie P; Ortiz-Gonzalez, Xilma R; Pichurin, Pavel N; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J; Renaud, Deborah L; Rush, Eric T; Saunders, Carol; Selcen, Duygu; Seman, Ann R; Shinde, Deepali N; Smith, Erica D; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L; van de Kamp, Jiddeke M; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

利用可识别患者数据促进全球临床合作:米涅瓦计划

Nellåker, Christoffer; Alkuraya, Fowzan S; Baynam, Gareth; Bernier, Raphael A; Bernier, Francois P J; Boulanger, Vanessa; Brudno, Michael; Brunner, Han G; Clayton-Smith, Jill; Cogné, Benjamin; Dawkins, Hugh J S; deVries, Bert B A; Douzgou, Sofia; Dudding-Byth, Tracy; Eichler, Evan E; Ferlaino, Michael; Fieggen, Karen; Firth, Helen V; FitzPatrick, David R; Gration, Dylan; Groza, Tudor; Haendel, Melissa; Hallowell, Nina; Hamosh, Ada; Hehir-Kwa, Jayne; Hitz, Marc-Phillip; Hughes, Mark; Kini, Usha; Kleefstra, Tjitske; Kooy, R Frank; Krawitz, Peter; Küry, Sébastien; Lees, Melissa; Lyon, Gholson J; Lyonnet, Stanislas; Marcadier, Julien L; Meyn, Stephen; Moslerová, Veronika; Politei, Juan M; Poulton, Cathryn C; Raymond, F Lucy; Reijnders, Margot R F; Robinson, Peter N; Romano, Corrado; Rose, Catherine M; Sainsbury, David C G; Schofield, Lyn; Sutton, Vernon R; Turnovec, Marek; Van Dijck, Anke; Van Esch, Hilde; Wilkie, Andrew O M

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

线粒体柠檬酸载体(SLC25A1)缺乏症的严重新生儿表现

Smith, Amanda; McBride, Skye; Marcadier, Julien L; Michaud, Jean; Al-Dirbashi, Osama Y; Schwartzentruber, Jeremy; Beaulieu, Chandree L; Katz, Sherri L; Majewski, Jacek; Bulman, Dennis E; Geraghty, Michael T; Harper, Mary-Ellen; Chakraborty, Pranesh; Lines, Matthew A

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation

先天性蔗糖酶-异麦芽糖酶缺乏症:鉴定出一种常见的因纽特人创始突变

Marcadier, Julien L; Boland, Margaret; Scott, C Ronald; Issa, Kheirie; Wu, Zaining; McIntyre, Adam D; Hegele, Robert A; Geraghty, Michael T; Lines, Matthew A