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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Persistence mechanisms of Crohn's disease-associated adherent invasive Escherichia coli within macrophages

克罗恩病相关黏附侵袭性大肠杆菌在巨噬细胞内的持续存在机制

Bruder, Emma; Nedjar, Hosni; Quenech'Du, Nicole; Chevarin, Caroline; Vazeille, Emilie; Granotier, Marie; Singh, Parul; Buisson, Anthony; Barnich, Nicolas; Espéli, Olivier

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France

PERIGENOMED-CLINICS 1——首个关于 PERIGENOMED 可行性、接受度和心理社会影响的研究:一项旨在为基于基因组测序的筛查方法在法国新生儿筛查 (NBS) 中的相关性提供初步具体证据的试点项目

Level, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frédéric; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlène; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Véronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Léa; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stéphane; Pasquier, Laurent; Huet, Frédéric; Faivre, Laurence

ChiA: a major player in the virulence of Crohn's disease-associated adherent and invasive Escherichia coli (AIEC)

ChiA:克罗恩病相关粘附性和侵袭性大肠杆菌 (AIEC) 毒力的主要参与者

Margot Fargeas, Frederic Faure, Clara Douadi, Caroline Chevarin, Aurélien Birer, Adeline Sivignon, Michael Rodrigues, Jérémy Denizot, Elisabeth Billard, Nicolas Barnich, Anthony Buisson

Comparison of Crohn's disease-associated adherent-invasive Escherichia coli (AIEC) from France and Hong Kong: results from the Pacific study

法国和香港克罗恩病相关黏附侵袭性大肠杆菌 (AIEC) 的比较:太平洋研究的结果

Chevarin, Caroline; Xu, Zhilu; Martin, Lucas; Robin, Frederic; Beyrouthy, Racha; Colombel, Jean-Frédéric; Sulakvelidze, Alexander; Ng, Siew C; Bonnet, Richard; Buisson, Anthony; Barnich, Nicolas

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

罕见病中的移动元件插入:60,000个外显子组样本的比较基准和重新分析

Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E L M; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; Te Paske, Iris B A W; de Voer, Richarda M; Faivre, Laurence; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Töpf, Ana; van der Kooi, Anneke J; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

更正:罕见病中的移动元件插入:60,000个外显子组样本的比较基准和重新分析

Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E L M; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; Te Paske, Iris B A W; de Voer, Richarda M; Faivre, Laurence; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Töpf, Ana; van der Kooi, Anneke J; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

逐步使用基因组学和转录组学技术可提高孟德尔遗传病的诊断率

Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébas

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

对基因组测序数据的二次分析:检测罕见病队列中的移动元件插入

Philippine Garret,Martin Chevarin,Antonio Vitobello,Simon Verdez,Cyril Fournier,Alain Verloes,Emilie Tisserant,Pierre Vabres,Orlane Prevel,Christophe Philippe,Anne-Sophie Denommé-Pichon,Ange-Line Bruel,Frédéric Tran Mau-Them,Hana Safraou,Aïcha Boughalem,Jean-Marc Costa,Detlef Trost,Christel Thauvin-Robinet,Laurence Faivre,Yannis Duffourd

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

将“极端表型方法”应用于男性乳腺癌,可以识别出ATR的罕见变异体,这些变异体可能是乳腺癌的易感基因。

Chevarin, Martin; Alcantara, Diana; Albuisson, Juliette; Collonge-Rame, Marie-Agnès; Populaire, Céline; Selmani, Zohair; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Callier, Patrick; Duffourd, Yannis; Jonveaux, Philippe; Bignon, Yves-Jean; Coupier, Isabelle; Cornelis, François; Cordier, Christophe; Mozelle-Nivoix, Monique; Rivière, Jean-Baptiste; Kuentz, Paul; Thauvin, Christel; Boidot, Romain; Ghiringhelli, François; O'Driscoll, Marc; Faivre, Laurence; Nambot, Sophie