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

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

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

对未解决的产前外显子组测序结构缺陷进行重新分析:诊断率和产后/尸检特征的贡献

Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sébastien; Quelin, Chloé; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frédéric; Bourgon, Nicolas

A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot.

HEY2 中的一种新的杂合致病变异导致了非综合征型法洛四联症的家族性表现

Bergès Camille, Laffargue Fanny, Dauphin Claire, Postma Alex-Vincent, Thambo Jean-Benoit, Rooryck Caroline

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

FOXI3 基因的新变异证实了其与眼耳脊椎谱系疾病的关系

Sequeira Angèle, Sagardoy Thomas, Bourgeade Laetitia, Lacombe Didier, Sarrazin Elizabeth, Toutain Annick, Rooryck Caroline

Outcomes associated with fetal nuchal translucency between 3.0 and 3.4 mm in the first trimester

妊娠早期胎儿颈项透明层厚度在 3.0 至 3.4 毫米之间的相关结局

Vriendt, Manon D E; Rooryck, Caroline; Madar, Hugo; Coatleven, Frédéric; Vincienne, Marie; Prier, Perrine; Naudion, Sophie; Sentilhes, Loïc; Bouchghoul, Hanane

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

六例22q13.2扩增新病例,包括TFC20:首例三倍体和最小重复与神经发育迟缓相关病例报告

Bizot, Etienne; Jouni, Dima; Rooryck, Caroline; Taylor, Juliet; Legendre, Marine; Charbonnier, Lorelei; Metreau, Julia; Benaloun, Emmanuelle; Pinson, Audrey; Quenum, Geneviève; Bouligand, Jérôme; Tachdjian, Gérard; Labrune, Philippe; Tosca, Lucie

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

肌联蛋白相关家族性扩张型心肌病:与疾病发病相关的因素

Johnson, Renee; Fletcher, Robert A; Peters, Stacey; Ohanian, Monique; Soka, Magdalena; Smolnikov, Andrei; Abihider, Katherine E; Ackerman, Michael J; Ader, Flavie; Akhtar, Mohammed M; Amin, Ahmad S; Ashley, Euan A; Atherton, John J; Austin, Rachel; Baas, Annette F; Bagnall, Richard D; Ross, Samantha Barratt; Blouin, Jean-Louis; Brown, Emily E; Bundgaard, Henning; Cannie, Douglas; Chmielewski, Przemyslaw; Correnti, Gemma; Crespo-Leiro, Maria Generosa; Dal Ferro, Matteo; Dellefave-Castillo, Lisa M; Dominguez, Fernando; Dooijes, Dennis; Dybro, Anne M; Ed Demri, Youssef; El Hachmi, Mohamed; Escobar-Lopez, Luis; Foye, Sarah Jajesnica; Franaszczyk, Maria; Gigli, Marta; Lopez, Esther Gonzalez; Goudal, Adeline; Graw, Sharon; Guipponi, Michel; Haan, Eric; Haas, Jan; Hammersley, Daniel J; Hansen, Frederikke G; Hayward, Christopher S; Hey, Thomas Morris; Heymans, Stephane; Ho, Carolyn Y; Houweling, Arjan C; Ingles, Jodie; Ingrey, Angela; Jabbour, Andrew; James, Paul A; Jansweijer, Joeri A; Jongbloed, Jan D H; Keogh, Anne M; Larrañaga-Moreira, Jose M; Lekanne Deprez, Ronald H; Macciocca, Ivan; Macdonald, Peter S; Mansencal, Nicolas; Mansour, Julia; Martinez-Veira, Cristina; McDonough, Barbara; McGaughran, Julie; Medo, Kristen; Merlo, Marco; Michalak, Ewa; Monserrat, Lorenzo; Mountain, Helen; Muller, Steven A; Murphy, Anne M; Murray, Brittney; Oates, Emily C; Ormondroyd, Elizabeth; Pachter, Nicholas; Paldino, Alessia; Palmyre, Aurélien; Pereira, Naveen L; Picard, Kermshlise C; Poplawski, Nicola; Prasad, Sanjay; Proukhnitzky, Julie; Pruny, Jean-Francois; Reant, Patricia; Richard, Pascale; Ronan, Anne; Sedaghat-Hamedani, Farbod; Semsarian, Christopher; Storm, Garrett; Stroeks, Sophie; Syrris, Petros; Taylor, Matthew R G; Thomson, Kate; Thompson, Tina; van Tintelen, J Peter; Vissing, Christoffer Rasmus; Waddell-Smith, Kathryn E; Wallis, Mathew; Zentner, Dominica; Arnott, Clare; Marian, Ali J; Oh, Jaewon; Fokstuen, Siv; James, Cynthia A; Barriales-Villa, Roberto; Meder, Benjamin; Wahbi, Karim; Giudicessi, John R; Parikh, Victoria N; Ware, James S; Piriou, Nicolas; Rooryck, Caroline; Lakdawala, Neal K; Mestroni, Luisa; Sinagra, Gianfranco; Elliott, Perry M; Watkins, Hugh; McNally, Elizabeth M; Charron, Philippe; van Spaendonck-Zwarts, Karin Y; Garcia-Pavia, Pablo; Peña-Peña, Maria Luisa; Mogensen, Jens; Christensen, Alex Hoerby; Bilińska, Zofia T; Rasmussen, Torsten B; Seidman, Jonathan G; Seidman, Christine E; Te Riele, Anneline S J M; Verdonschot, Job A J; Pinto, Yigal M; Christiaans, Imke; Fatkin, Diane

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

利用三重外显子组测序对超声异常胎儿进行产前诊断:一种强大的诊断工具

Tran Mau-Them, Frédéric; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Bruel, Ange-Line; Vitobello, Antonio; Garde, Aurore; Nambot, Sophie; Bourgon, Nicolas; Racine, Caroline; Sorlin, Arthur; Moutton, Sébastien; Marle, Nathalie; Rousseau, Thierry; Sagot, Paul; Simon, Emmanuel; Vincent-Delorme, Catherine; Boute, Odile; Colson, Cindy; Petit, Florence; Legendre, Marine; Naudion, Sophie; Rooryck, Caroline; Prouteau, Clément; Colin, Estelle; Guichet, Agnès; Ziegler, Alban; Bonneau, Dominique; Morel, Godelieve; Fradin, Mélanie; Lavillaureix, Alinoé; Quelin, Chloé; Pasquier, Laurent; Odent, Sylvie; Vera, Gabriella; Goldenberg, Alice; Guerrot, Anne-Marie; Brehin, Anne-Claire; Putoux, Audrey; Attia, Jocelyne; Abel, Carine; Blanchet, Patricia; Wells, Constance F; Deiller, Caroline; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Isidor, Bertrand; Amiel, Jeanne; Dard, Rodolphe; Godin, Manon; Gruchy, Nicolas; Jeanne, Médéric; Schaeffer, Elise; Maillard, Pierre-Yves; Payet, Frédérique; Jacquemont, Marie-Line; Francannet, Christine; Sigaudy, Sabine; Bergot, Marine; Tisserant, Emilie; Ascencio, Marie-Laure; Binquet, Christine; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Thauvin-Robinet, Christel

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

全基因组关联分析发现了新的布鲁加达综合征风险位点,并揭示了钠通道调控在疾病易感性中的新机制。

Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L Jr; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R

Evidence of mosaicism in SPAST variant carriers in four French families

在四个法国家族中,SPAST变异携带者存在嵌合现象的证据

Angelini, Chloé; Goizet, Cyril; Said, Samia Ait; Camu, William; Depienne, Christel; Heron, Bénédicte; Kol, Bophara; Guillaud-Bataille, Marine; Pennamen, Perrine; Rooryck, Caroline; Scherer-Gagou, Clarisse; Tissier, Laurène; Stevanin, Giovanni; Leguern, Eric; Banneau, Guillaume