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

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

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies

慢性疼痛患者中法布里病的患病率:从 DOUFAB 和 DOUFABIS 研究中吸取的教训

Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Caroline Rooryck, Dominique P Germain, Firas Jabbour, Anne-Sophie Blanchet, Alexandre Cauchie, Elisabeth Sarrazin, Rémi Bellance, Jean-Pascal Lefaucheur, Julie Bismuth, Stéphanie Ranque-Garnier, Virginie Corand,

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

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign

与 PAK2 致病变异相关的产前表型:双侧胸腔积液是警示信号

Louis Domenach, Caroline Rooryck, Marine Legendre, Hanane Bouchghoul, Claire Beneteau, Henri Margot

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

Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies

在患有心肌病的男性中发现的三种 TMPO/LAP2 变异诱发的异常细胞表型

Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia

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