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

NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS): 2025 Update

美国国家老龄研究所阿尔茨海默病遗传学数据存储中心(NIAGADS):2025 年更新

Buisine, Marie-Pierre; Bellanne-Chantelot, Christine; Calmels, Nadège; Vaché, Christel; Besnard, Thomas; Cogne, Benjamin; Vitobello, Antonio; Piton, Amélie; Martins, Alexandra; Gaildrat, Pascaline; Dhaenens, Claire-Marie; Gorokhova, Svetlana; Boutry-Kryza, Nadia; Caputo, Sandrine; Leman, Raphaël; Krieger, Sophie; Le Gac, Gérald; Houdayer, Claude; Bass, Lauren; Kuzma, Amanda; Valladares, Otto; Nicaretta, Heather; Gangadharan, Prabhakaran; Katanic, Zivadin; Kirsch, Maureen; Ren, Youli; Manuel, Joseph; Saravanan, Naveensri; Brettschneider, Jascha; Wilk, Andrew; Zhao, Yi; Qu, Liming; Moon, Michelle K; Rose, Alexis Lerro; Keskinen, Peter; Cifello, Jeffrey; Horng, Wenhwai; Tate, Sam; Robbins, Flawless; White, Heather; Carter, Luke; Chuang, Wei‐Hsuan; Jin, Yumi; Chou, Shin‐Yi; Naj, Adam C; Greenfest‐Allen, Emily; Kuksa, Pavel P; Leung, Yuk Yee; Lee, Wan‐Ping; Schellenberg, Gerald D; Wang, Li‐San

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

MMR基因变异的剪接分析:欧洲错配修复工作组的最佳实践建议

Morak, Monika; Pineda, Marta; Martins, Alexandra; Gaildrat, Pascaline; Tubeuf, Hélène; Drouet, Aurélie; Gómez, Carolina; Dámaso, Estela; Schaefer, Kerstin; Steinke-Lange, Verena; Koehler, Udo; Laner, Andreas; Hauchard, Julie; Chauris, Karine; Holinski-Feder, Elke; Capellá, Gabriel

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

SPiP:剪接预测流程,一种用于大规模检测外显子和内含子变异对mRNA剪接影响的机器学习工具

Leman, Raphaël; Parfait, Béatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gérald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Céline; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Hélène; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Françoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T; Spurdle, Amanda B; Frébourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism

基于生物信息学预测、剪接分析和蛋白质分析对意义不明的ABCC8变异体进行功能表征:有利于先天性高胰岛素血症的准确诊断

Saint-Martin, Cécile; Cauchois-Le Mière, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean-Baptiste; Buratti, Julien; Bouvet, Delphine; Frébourg, Thierry; Gaildrat, Pascaline; Shyng, Show-Ling; Bellanné-Chantelot, Christine; Martins, Alexandra

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

评估分支点预测工具在预测生理分支点及其受变异影响方面的能力

Leman, Raphaël; Tubeuf, Hélène; Raad, Sabine; Tournier, Isabelle; Derambure, Céline; Lanos, Raphaël; Gaildrat, Pascaline; Castelain, Gaia; Hauchard, Julie; Killian, Audrey; Baert-Desurmont, Stéphanie; Legros, Angelina; Goardon, Nicolas; Quesnelle, Céline; Ricou, Agathe; Castera, Laurent; Vaur, Dominique; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Boutry-Kryza, Nadia; Schultz, Inès; Caux-Moncoutier, Virginie; Rossing, Maria; Walker, Logan C; Spurdle, Amanda B; Houdayer, Claude; Martins, Alexandra; Krieger, Sophie

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

检测与遗传性乳腺癌和卵巢癌相关的基因的剪接模式

Davy, Grégoire; Rousselin, Antoine; Goardon, Nicolas; Castéra, Laurent; Harter, Valentin; Legros, Angelina; Muller, Etienne; Fouillet, Robin; Brault, Baptiste; Smirnova, Anna S; Lemoine, Fréderic; de la Grange, Pierre; Guillaud-Bataille, Marine; Caux-Moncoutier, Virginie; Houdayer, Claude; Bonnet, Françoise; Blanc-Fournier, Cécile; Gaildrat, Pascaline; Frebourg, Thierry; Martins, Alexandra; Vaur, Dominique; Krieger, Sophie

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

法国队列中胱氨酸尿症的临床和分子特征:评估大规模重排和剪接变异的相关性

Pascaline Gaildrat, Said Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, Guillaume Bollee, Hélène Tubeuf, Thomas Charles, Aurelia Bertholet-Thomas, Alice Goldenberg, Frederic Barbey, Alexandra Martins, Pascale Saugier-Veber, Thierry Frébourg, Bertrand Knebelmann, Soumeya Bekri

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

外显子剪接突变比目前估计的更为普遍,并且可以通过计算机模拟工具进行预测。

Soukarieh, Omar; Gaildrat, Pascaline; Hamieh, Mohamad; Drouet, Aurélie; Baert-Desurmont, Stéphanie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

UMD-MLH1/MSH2/MSH6 数据库:法国林奇综合征家族遗传变异的描述和分析

Grandval, Philippe; Fabre, Aurélie J; Gaildrat, Pascaline; Baert-Desurmont, Stéphanie; Buisine, Marie-Pierre; Ferrari, Anthony; Wang, Qing; Béroud, Christophe; Olschwang, Sylviane

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

生物信息学预测和功能性剪接分析对BRCA基因未分类变异解释的贡献

Théry, Jean Christophe; Krieger, Sophie; Gaildrat, Pascaline; Révillion, Françoise; Buisine, Marie-Pierre; Killian, Audrey; Duponchel, Christiane; Rousselin, Antoine; Vaur, Dominique; Peyrat, Jean-Philippe; Berthet, Pascaline; Frébourg, Thierry; Martins, Alexandra; Hardouin, Agnès; Tosi, Mario