Baux相关文献与解析，生知库 | 链接生命科学的每一步

Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

更正：对患者iPSC进行基因组编辑可纠正最常见的USH2A突变，并揭示有趣的突变mRNA表达谱

期刊:Molecular Therapy-Methods & Clinical Development

doi:10.1016/j.omtm.2025.101645

Sanjurjo-Soriano, Carla; Erkilic, Nejla; Baux, David; Mamaeva, Daria; Hamel, Christian P; Meunier, Isabelle; Roux, Anne-Françoise; Kalatzis, Vasiliki

发表日期：2025

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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

利用纳米孔长读长测序技术解析X连锁视网膜色素变性患者的RPGR ORF15基因型

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-024-01649-0

Vaché, Christel; Faugère, Valérie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Béatrice; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Françoise

Sequencing

发表日期：2025

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Tick-borne lymphadenopathy in northeastern France: a human and vector clinical-epidemiological study

法国东北部蜱传淋巴结病：一项人与媒介临床流行病学研究

期刊:Parasites & Vectors

影响因子:3.5

doi:10.1186/s13071-025-07078-2

Kotzyba, Jeanne; Baux, Elisabeth; Hansmann, Yves; Boyer, Pierre; Jaulhac, Benoît; Martinot, Martin; Martha, Benoît; Kaeuffer, Charlotte; Bonijoly, Thomas; Bani-Sadr, Firouzé; Legoff, Antoine; Hoefler, Florence; Blot, Mathieu; Bourdellon, Loïc; Zilliox, Laurence; Boulanger, Nathalie; Lefevre, Benjamin

发表日期：2025

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Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs

利用 MORFEE 增强对小型 ORF 改变变异的注释：推出 MORFEEdb，一个包含影响人类 5'UTR 上游 ORF 的 SNV 的综合目录

期刊:NAR Genomics and Bioinformatics

影响因子:2.8

doi:10.1093/nargab/lqaf017

Meguerditchian, Caroline; Baux, David; Ludwig, Thomas E; Genin, Emmanuelle; Trégouët, David-Alexandre; Soukarieh, Omar

发表日期：2025

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Seed and Color Preferences of Wild Carrion Crows From Cafeteria Experiments

通过食堂实验研究野生乌鸦的种子和颜色偏好

期刊:Ecology and Evolution

影响因子:2.3

doi:10.1002/ece3.70944

Chantoufi, Amal; Canário, Amanda Marques; Baud, Tilwenn; Vallé, Clément; Baux, Alice; Jiguet, Frédéric

发表日期：2025

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Lyme borreliosis and medical wandering: what do patients think about multidisciplinary management? A qualitative study in the context of scientific and social controversy

莱姆病与就医漂泊：患者如何看待多学科管理？一项在科学和社会争议背景下进行的定性研究

期刊:BMC Infectious Diseases

影响因子:3

doi:10.1186/s12879-024-09194-3

Raffetin, Alice; Puppo, Costanza; Chahour, Amal; Belkasmi, Assia; Baux, Elisabeth; Patrat-Delon, Solène; Caraux-Paz, Pauline; Rivière, Julie; Gallien, Sébastien

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

鉴定并进行体内功能研究以探究导致听力损失的 HOMER2 非终止密码子变异体

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-023-01374-0

Vaché, Christel; Cubedo, Nicolas; Mansard, Luke; Sarniguet, Jérôme; Baux, David; Faugère, Valérie; Baudoin, Corinne; Moclyn, Melody; Touraine, Renaud; Lina-Granade, Geneviève; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Rossel, Mireille; Roux, Anne-Françoise

发表日期：2023

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

SpliceAI-visual：一款免费的在线工具，用于改进 SpliceAI 剪接变异解读。

期刊:Human Genomics

影响因子:4.3

doi:10.1186/s40246-023-00451-1

de Sainte Agathe, Jean-Madeleine; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurélien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossée, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Élodie; Le Guern, Éric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Françoise; Cogné, Benjamin; Baux, David

发表日期：2023

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Acceptance of diagnosis and management satisfaction of patients with "suspected Lyme borreliosis" after 12 months in a multidisciplinary reference center: a prospective cohort study

多学科诊疗中心对“疑似莱姆病”患者进行12个月随访后诊断接受度和治疗满意度的前瞻性队列研究

期刊:BMC Infectious Diseases

影响因子:3

doi:10.1186/s12879-023-08352-3

Raffetin, Alice; Chahour, Amal; Schemoul, Julien; Paoletti, Giulia; He, Zhuoruo; Baux, Elisabeth; Patrat-Delon, Solène; Nguala, Steve; Caraux-Paz, Pauline; Puppo, Costanza; Arias, Pauline; Madec, Yoann; Gallien, Sébastien; Rivière, Julie

Peck or pass? Individual-level testing of a bird-repellent seed coating

啄食还是放过？鸟类驱避种子包衣的个体水平测试

Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

更正：对患者iPSC进行基因组编辑可纠正最常见的USH2A突变，并揭示有趣的突变mRNA表达谱

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

利用纳米孔长读长测序技术解析X连锁视网膜色素变性患者的RPGR ORF15基因型

Tick-borne lymphadenopathy in northeastern France: a human and vector clinical-epidemiological study

法国东北部蜱传淋巴结病：一项人与媒介临床流行病学研究

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs

利用 MORFEE 增强对小型 ORF 改变变异的注释：推出 MORFEEdb，一个包含影响人类 5'UTR 上游 ORF 的 SNV 的综合目录

Seed and Color Preferences of Wild Carrion Crows From Cafeteria Experiments

通过食堂实验研究野生乌鸦的种子和颜色偏好

Lyme borreliosis and medical wandering: what do patients think about multidisciplinary management? A qualitative study in the context of scientific and social controversy

莱姆病与就医漂泊：患者如何看待多学科管理？一项在科学和社会争议背景下进行的定性研究

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

鉴定并进行体内功能研究以探究导致听力损失的 HOMER2 非终止密码子变异体

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

SpliceAI-visual：一款免费的在线工具，用于改进 SpliceAI 剪接变异解读。

Acceptance of diagnosis and management satisfaction of patients with "suspected Lyme borreliosis" after 12 months in a multidisciplinary reference center: a prospective cohort study

多学科诊疗中心对“疑似莱姆病”患者进行12个月随访后诊断接受度和治疗满意度的前瞻性队列研究