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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Phenotype and imaging features associated with APP duplications

与APP基因重复相关的表型和影像学特征

Grangeon, Lou; Charbonnier, Camille; Zarea, Aline; Rousseau, Stephane; Rovelet-Lecrux, Anne; Bendetowicz, David; Lemaitre, Marion; Malrain, Cécile; Quillard-Muraine, Muriel; Cassinari, Kevin; Maltete, David; Pariente, Jeremie; Moreaud, Olivier; Magnin, Eloi; Cretin, Benjamin; Mackowiak, Marie-Anne; Sillaire, Adeline Rollin; Vercelletto, Martine; Dionet, Elsa; Felician, Olivier; Rod-Olivieri, Pauline; Thomas-Antérion, Catherine; Godeneche, Gaelle; Sauvée, Mathilde; Cartz-Piver, Leslie; Le Ber, Isabelle; Chauvire, Valérie; Jonveaux, Therèse; Balageas, Anna-Chloé; Laquerriere, Annie; Duyckaerts, Charles; Vital, Anne; de Paula, Andre Maues; Meyronet, David; Guyant-Marechal, Lucie; Hannequin, Didier; Tournier-Lasserve, Elisabeth; Campion, Dominique; Nicolas, Gaël; Wallon, David

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

利用读取深度信息从NGS数据中检测拷贝数变异:诊断性能评估

Quenez, Olivier; Cassinari, Kevin; Coutant, Sophie; Lecoquierre, François; Le Guennec, Kilan; Rousseau, Stéphane; Richard, Anne-Claire; Vasseur, Stéphanie; Bouvignies, Emilie; Bou, Jacqueline; Lienard, Gwendoline; Manase, Sandrine; Fourneaux, Steeve; Drouot, Nathalie; Nguyen-Viet, Virginie; Vezain, Myriam; Chambon, Pascal; Joly-Helas, Géraldine; Le Meur, Nathalie; Castelain, Mathieu; Boland, Anne; Deleuze, Jean-François; Tournier, Isabelle; Charbonnier, Françoise; Kasper, Edwige; Bougeard, Gaëlle; Frebourg, Thierry; Saugier-Veber, Pascale; Baert-Desurmont, Stéphanie; Campion, Dominique; Rovelet-Lecrux, Anne; Nicolas, Gaël

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

自闭症谱系障碍罕见遗传易感变异评估:检出率和实际应用

Husson, Thomas; Lecoquierre, François; Cassinari, Kevin; Charbonnier, Camille; Quenez, Olivier; Goldenberg, Alice; Guerrot, Anne-Marie; Richard, Anne-Claire; Drouin-Garraud, Valérie; Brehin, Anne-Claire; Soleimani, Maryam; Taton, Romain; Rotharmel, Maud; Rosier, Antoine; Chambon, Pascal; Le Meur, Nathalie; Joly-Helas, Géraldine; Saugier-Veber, Pascale; Boland, Anne; Deleuze, Jean-François; Olaso, Robert; Frebourg, Thierry; Nicolas, Gael; Guillin, Olivier; Campion, Dominique