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

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation

新型PCDH12致病性错义变异导致神经发育障碍和眼部畸形

Rakotomamonjy, Jennifer; Fares-Taie, Lucas; Kumar, Raman; Gebert, Cole; Magaña-Hernandez, Laura; Blaszkiewicz, Anna; Benson, Theresa; Fairbanks-Santana, Martín; Trejo, Angela; Rogers, R Curtis; Mayer, Claudine; Chennen, Kirsley; Poch, Olivier; Bardakjian, Tanya M; Tropea, Thomas F; Gonzalez-Alegre, Pedro; Carvill, Gemma L; Zhang, Jamie; Agarwala, Shreya; Jolly, Lachlan A; Van Bergen, Nicole J; Balasubramaniam, Shanti; Ellaway, Carolyn J; Christodoulou, John; Gecz, Jozef; Rozet, Jean-Michel; Guemez-Gamboa, Alicia

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

在法国医疗保健体系中,以基因组测序诊断智力障碍作为罕见病诊断的范例:前瞻性 DEFIDIAG 研究

El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène

Knee Osteoarthritis Diagnosis: Future and Perspectives

膝骨关节炎的诊断:未来展望

Favreau, Henri; Chennen, Kirsley; Feruglio, Sylvain; Perennes, Elise; Anton, Nicolas; Vandamme, Thierry; Jessel, Nadia; Poch, Olivier; Conzatti, Guillaume

Critical assessment of missense variant effect predictors on disease-relevant variant data

对错义变异效应预测因子在疾病相关变异数据上的关键评估

Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, François; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Céline; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E; Ioannidis, Nilah M

StopKB: a comprehensive knowledgebase for nonsense suppression therapies

StopKB:一个全面的无义突变抑制疗法知识库

Haas, Nicolas; Thompson, Julie Dawn; Renaud, Jean-Paul; Chennen, Kirsley; Poch, Olivier

IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa

IMPatienT:一个用于数字化、处理和探索多模态患者数据的集成式 Web 应用程序

Meyer, Corentin; Romero, Norma Beatriz; Evangelista, Teresinha; Cadot, Brunot; Laporte, Jocelyn; Jeannin-Girardon, Anne; Collet, Pierre; Ayadi, Ali; Chennen, Kirsley; Poch, Olivier

Graph-based machine learning model for weight prediction in protein-protein networks

基于图的机器学习模型用于蛋白质-蛋白质网络中的权重预测

Akid, Hajer; Chennen, Kirsley; Frey, Gabriel; Thompson, Julie; Ben Ayed, Mounir; Lachiche, Nicolas

CeGAL: Redefining a Widespread Fungal-Specific Transcription Factor Family Using an In Silico Error-Tracking Approach

CeGAL:利用计算机模拟错误追踪方法重新定义广泛存在的真菌特异性转录因子家族

Mayer, Claudine; Vogt, Arthur; Uslu, Tuba; Scalzitti, Nicolas; Chennen, Kirsley; Poch, Olivier; Thompson, Julie D

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

新的 IQCE 变异证实了其在轴后多指畸形中的作用,并导致斑马鱼出现纤毛缺陷表型

Alejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, Corinne Stoetzel, Elise Schaefer, Sophie Scheidecker, Véronique Geoffroy, Aline Schneider, Fouzia Studer, Francesca Mattioli, Kirsley Chennen, Sabine Sigaudy, Damien Plassard, Olivier Poch, Amélie Piton, Uwe Strahle, Jean Muller, Hélèn

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

MISTIC:一种用于揭示与疾病相关的有害错义变异的预测工具

Chennen, Kirsley; Weber, Thomas; Lornage, Xavière; Kress, Arnaud; Böhm, Johann; Thompson, Julie; Laporte, Jocelyn; Poch, Olivier