المؤلفون: Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/2cfe22713c9047a98436743628f16f58

المؤلفون: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Chronic pancreatitis, Full-length gene splicing assay (FLGSA), Precision medicine in genetics, Pre-mRNA splicing, Single-nucleotide variants (SNVs), SpliceAI, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/d02d19b436f74bb4b284a9c0563849d2

المؤلفون: Anthony F. Herzig, Lourdes Velo‐Suárez, The FrEx Consortium, The FranceGenRef Consortium, Christian Dina, Richard Redon, Jean-François Deleuze, Emmanuelle Génin

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/accec295e7354bb3b126f58d7cdcf248

المؤلفون: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

المصدر: Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: ACMG guidelines, Allele frequency threshold, Allelic heterogeneity, Disease prevalence, Exome sequencing, Genetic heterogeneity, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/2eb0e4b3e2f04a0db191e0fc90b873c0

المؤلفون: Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 8729

مصطلحات موضوعية: BBS5 gene, Bardet–Biedl syndrome, whole-genome sequencing, structural variation, primary cilium

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24108729

الاتاحة: https://doi.org/10.3390/ijms24108729

المؤلفون: Thibault Dekeyser, Emmanuelle Génin, Anthony F. Herzig

المصدر: Genes; Volume 14; Issue 2; Pages: 410

مصطلحات موضوعية: genotype imputation, population genetics, rare variants, reference panel, admixture

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Population and Evolutionary Genetics and Genomics; https://dx.doi.org/10.3390/genes14020410

الاتاحة: https://doi.org/10.3390/genes14020410

المؤلفون: Ozvan Bocher, Thomas E Ludwig, Marie-Sophie Oglobinsky, Gaëlle Marenne, Jean-François Deleuze, Suryakant Suryakant, Jacob Odeberg, Pierre-Emmanuel Morange, David-Alexandre Trégouët, Hervé Perdry, Emmanuelle Génin

المصدر: PLoS Genetics, Vol 18, Iss 9, p e1009923 (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/47dcd592d87c4bea91b6dd59452c4a97

المؤلفون: Sandrine Lemoine, Clelia Mornet, Isabelle Quintin-Roue, Marie-Christine Rousselet, Laurane Cottin, Aurélie Georgeais, Ludovic Dubouis, Françoise Boyer, Corentin Orvain, Clara Caillon, Maxime Renard, Valoris Le Brun, Lenaig Le Clech, Jean-Christophe Ianotto, Emmanuelle Génin, Barbara Burroni, Valérie Ugo, Damien Luque Paz, Eric Lippert

المصدر: Haematologica, Vol 107, Iss 11 (2022)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/10711; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/e2e3d17193c0401ca25e8562c910b30e

المؤلفون: Anthony F. Herzig, Françoise Clerget-Darpoux, Emmanuelle Génin

المصدر: Journal of Personalized Medicine; Volume 12; Issue 8; Pages: 1266

مصطلحات موضوعية: polygenic risk score, polygenic additive model, correlation, causation, association

وصف الملف: application/pdf

Relation: Omics/Informatics; https://dx.doi.org/10.3390/jpm12081266

الاتاحة: https://doi.org/10.3390/jpm12081266

المؤلفون: LeeAnn Ramsay, Marie‐Lise Quillé, Cyrille Orset, Pierre de laGrange, Estelle Rousselet, Claude Férec, Gérald Le Gac, Emmanuelle Génin, Serge Timsit

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1681-1695 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/c6cf0ce2bb62404e9a0a42db45ae0385

المؤلفون: Na Pu, Emmanuelle Masson, David N. Cooper, Emmanuelle Génin, Claude Férec, Jian-Min Chen

المصدر: Genes; Volume 12; Issue 11; Pages: 1683

مصطلحات موضوعية: chronic pancreatitis, enhancer, linkage disequilibrium, regulatory variant, SPINK1 gene

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12111683

الاتاحة: https://doi.org/10.3390/genes12111683

المؤلفون: Jian-Min Chen, Anthony Herzig, Emmanuelle Génin, Emmanuelle Masson, David Cooper, Claude Férec

المصدر: Genes; Volume 12; Issue 4; Pages: 471

مصطلحات موضوعية: genetic predisposition to disease, gene dosage effect, genetic variation, genome-wide association study, human

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040471

الاتاحة: https://doi.org/10.3390/genes12040471

المؤلفون: Mégane Collobert, Ozvan Bocher, Anaïs Le Nabec, Emmanuelle Génin, Claude Férec, Stéphanie Moisan

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 5, p 2599 (2021)

مصطلحات موضوعية: cis -ruption disorders, CFTR, regulation, transcription factors, 3D structure, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/22/5/2599; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/5ba53ecf6d764ea0a3bd3bbd9e15add2

الاتاحة: https://doi.org/10.3390/ijms22052599
https://doaj.org/article/5ba53ecf6d764ea0a3bd3bbd9e15add2

المؤلفون: Pascal Trouvé, Claude Férec, Emmanuelle Génin

المصدر: Cells, Vol 10, Iss 2980, p 2980 (2021)

مصطلحات موضوعية: cystic fibrosis, unfolded protein response, inflammation, infection, Cytology, QH573-671

Relation: https://www.mdpi.com/2073-4409/10/11/2980; https://doaj.org/toc/2073-4409; https://doaj.org/article/30f8e4ee39904309b41976d16eda6351

الاتاحة: https://doi.org/10.3390/cells10112980
https://doaj.org/article/30f8e4ee39904309b41976d16eda6351

المؤلفون: Anthony F. Herzig, Emmanuelle Génin, David N. Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen

المصدر: Genes; Volume 11; Issue 11; Pages: 1349

مصطلحات موضوعية: chronic pancreatitis, gene-environment interaction, meta-analysis, PRSS1-PRSS2, re-analysis, rs10273639

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11111349

الاتاحة: https://doi.org/10.3390/genes11111349

المؤلفون: Reda Bellafqira, Thomas E. Ludwig, David Niyitegeka, Emmanuelle Genin, Gouenou Coatrieux

المصدر: IEEE Access, Vol 8, Pp 112515-112529 (2020)

مصطلحات موضوعية: Data confidentiality, data outsourcing, genome-wide association study (GWAS), privacy, secure GWAS platform, weighted-sum statistic (WSS), Electrical engineering. Electronics. Nuclear engineering, TK1-9971

Relation: https://ieeexplore.ieee.org/document/9119132/; https://doaj.org/toc/2169-3536; https://doaj.org/article/ceb6bc89a1db413595422bc0e3d9c8ca

الاتاحة: https://doi.org/10.1109/ACCESS.2020.3002966
https://doaj.org/article/ceb6bc89a1db413595422bc0e3d9c8ca

المؤلفون: Ozvan Bocher, Gaëlle Marenne, Emmanuelle Génin, Hervé Perdry

المصدر: Genetic Epidemiology.

مصطلحات موضوعية: Epidemiology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::39d93db2e6d8015eb4903ec9e3eb871c
https://doi.org/10.1002/gepi.22529

المؤلفون: Emmanuelle Masson, Wen-Bin Zou, Na Pu, Vinciane Rebours, Emmanuelle Génin, Hao Wu, Jin-Huan Lin, Yuan-Chen Wang, Zhao-Shen Li, David N. Cooper, Claude Férec, Zhuan Liao, Jian-Min Chen

المصدر: Pancreatology.

مصطلحات موضوعية: Hepatology, Endocrinology, Diabetes and Metabolism, Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::983eb0022315a7bfea368e280f1c398a
https://doi.org/10.1016/j.pan.2023.04.004

المؤلفون: Adeline Bataille, Christelle Le Gall-Ianotto, Emmanuelle Genin, Laurent Misery

المصدر: Frontiers in Medicine, Vol 6 (2019)

مصطلحات موضوعية: sensitive skin, transcriptomics, pathophysiology, pathogenic mechanism, microarray, RNAseq, Medicine (General), R5-920

Relation: https://www.frontiersin.org/article/10.3389/fmed.2019.00115/full; https://doaj.org/toc/2296-858X; https://doaj.org/article/77530849cb3b4ece9bbfc6a3838b6eb1

الاتاحة: https://doi.org/10.3389/fmed.2019.00115
https://doaj.org/article/77530849cb3b4ece9bbfc6a3838b6eb1

المؤلفون: Jian-Min Chen, Emmanuelle Masson, Wen-Bin Zou, Zhuan Liao, Emmanuelle Génin, David N. Cooper, Claude Férec

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::336bf68d66cbd6ab8bddf374a662b405
https://doi.org/10.1101/2023.01.23.23284909