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

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly

CUL1 变异导致严重的神经发育障碍:来自人类遗传学和斑马鱼小头畸形模型的启示

Xu, Haoling; Liu, Zhen; Hamdan, Fadi F; Wu, Shengnan; He, Mei; Wang, Dan; Pan, Hu; Hu, Juanli; Chen, Yiqiao; Michaud, Jacques L; Minassian, Berge A; Duan, Jing; Liao, Jianxiang; Su, Jinping; Hu, Sainan; Peng, Yin; Ye, Qinyong; Chen, Li

Cost analysis of hospitalized children suspected of rare genetic diseases

罕见遗传病住院患儿的成本分析

Kouame, Jean Martial; LaRue, Simon; Varin-Tremblay, Camille; Michaud, Jacques L; Laberge, Anne-Marie; Guertin, Jason Robert

The evolution of health data ecosystems: An international survey

健康数据生态系统的演变:一项国际调查

Lerner-Ellis, Jordan P; Price, E Magda; Subhani, Shazia; Boughtwood, Tiffany; Brion, Marie-Jo; Rendon, Augusto; Cividanes, Lene; Gemmer, Jacob; Ciofani, Danielle; Bertin, Nicolas; Wee, Seow Shih; Robertson, Stephen; Baz, Batoul; Crameri, Katrin; Österle, Sabine; Wirta, Valtteri; Sikora, Per; Lindstrand, Anna; Nowak, Frédérique; Amado, Inês; Mulder, Nicola Jane; Ganna, Andrea; Goodhand, Peter; Smith, Lindsay D; Marshall, Christian R; Zawati, Ma'n; Ferretti, Vincent; Michaud, Jacques L; Bulman, Dennis; Bernier, Francois; Boycott, Kym M

Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex.

Syngap1 调节小鼠听觉皮层中 Parvalbumin 阳性中间神经元的突触驱动和膜兴奋性

Francavilla Ruggiero, Chattopadhyaya Bidisha, Damo Kamda Jorelle Linda, Jadhav Vidya, Kourrich Said, Michaud Jacques L, Di Cristo Graziella

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 变异通过下调 WNT/β-catenin 信号通路导致自闭症谱系障碍

Gong Maolei, Li Jiayi, Qin Zailong, Machado Bressan Wilke Matheus Vernet, Liu Yijun, Li Qian, Liu Haoran, Liang Chen, Morales-Rosado Joel A, Cohen Ana S A, Hughes Susan S, Sullivan Bonnie R, Waddell Valerie, van den Boogaard Marie-José H, van Jaarsveld Richard H, van Binsbergen Ellen, van Gassen Koen L, Wang Tianyun, Hiatt Susan M, Amaral Michelle D, Kelley Whitley V, Zhao Jianbo, Feng Weixing, Ren Changhong, Yu Yazhen, Boczek Nicole J, Ferber Matthew J, Lahner Carrie, Elliott Sherr, Ruan Yiyan, Mignot Cyril, Keren Boris, Xie Hua, Wang Xiaoyan, Popp Bernt, Zweier Christiane, Piard Juliette, Coubes Christine, Mau-Them Frederic Tran, Safraou Hana, Innes A Micheil, Gauthier Julie, Michaud Jacques L, Koboldt Daniel C, Sylvie Odent, Willems Marjolaine, Tan Wen-Hann, Cogne Benjamin, Rieubland Claudine, Braun Dominique, McLean Scott Douglas, Platzer Konrad, Zacher Pia, Oppermann Henry, Evenepoel Lucie, Blanc Pierre, El Khattabi Laïla, Haque Neshatul, Dsouza Nikita R, Zimmermann Michael T, Urrutia Raul, Klee Eric W, Shen Yiping, Du Hongzhen, Rappaport Leonard, Liu Chang-Mei, Chen Xiaoli

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

新一代测序时代的短串联重复序列:从历史位点到群体数据库

Uguen, Kevin; Michaud, Jacques L; Génin, Emmanuelle

Loss of tissue-type plasminogen activator causes multiple developmental anomalies

组织型纤溶酶原激活剂的缺失会导致多种发育异常

Uguen, Kevin; Frey, Tanja; Muthaffar, Osama; Décarie, Jean-Claude; Ameziane, Najim; Boissel, Sarah; Baradaran-Heravi, Yalda; Rauch, Anita; Oprea, Gabriela; Rad, Aboulfazl; Steindl, Katharina; Michaud, Jacques L

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

Unraveling the role of non-coding rare variants in epilepsy

揭示非编码罕见变异在癫痫中的作用

Girard, Alexandre; Moreau, Claudia; Michaud, Jacques L; Minassian, Berge; Cossette, Patrick; Girard, Simon L

The role of common genetic variation in presumed monogenic epilepsies

常见遗传变异在假定的单基因癫痫中的作用

Campbell, Ciarán; Leu, Costin; Feng, Yen-Chen Anne; Wolking, Stefan; Moreau, Claudia; Ellis, Colin; Ganesan, Shiva; Martins, Helena; Oliver, Karen; Boothman, Isabelle; Benson, Katherine; Molloy, Anne; Brody, Lawrence; Michaud, Jacques L; Hamdan, Fadi F; Minassian, Berge A; Lerche, Holger; Scheffer, Ingrid E; Sisodiya, Sanjay; Girard, Simon; Cosette, Patrick; Delanty, Norman; Lal, Dennis; Cavalleri, Gianpiero L