| Reactive astrocytes promote proteostasis in Huntington's disease through the JAK2-STAT3 pathway | Abjean L, Ben Haim L, Riquelme-Perez M, Gipchtein P, Derbois C, Palomares MA, Petit F, Herard AS, Gaillard MC, Guillermier M, Gaudin-Guerif M, Auregan G, Sagar N, Hery C, Dufour N, Robil N, Kabani M, Melki R, De la Grange P, Bemelmans AP, Bonvento G, Deleuze JF, Hantraye P, Flament J, Bonnet E, Brohard S, Olaso R, Brouillet E, Carrillo-de Sauvage MA and Escartin C | |  | | Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases | Damian A, Nunez-Moreno G, Jubin C, Tamayo A, de Alba MR, Villaverde C, Fund C, Delepine M, Leduc A, Deleuze JF, Minguez P, Ayuso C and Corton M | | | | Single cell transcriptome sequencing of stimulated and frozen human peripheral blood mononuclear cells | Derbois C, Palomares MA, Deleuze JF, Cabannes E and Bonnet E | | | | La transcriptomique en cellule unique pour étudier des maladies neurodégénératives | | | | | La transcriptomique en cellule unique pour étudier des maladies neurodégénératives | | | | | Methylated ccfDNA from plasma biomarkers of Alzheimer's disease using targeted bisulfite sequencing | Guemri J, Pierre-Jean M, Brohard S, Oussada N, Horgues C, Bonnet E, Mauger F and Deleuze JF | Epigenomics 14 (8), 451-468, 2022 | | | DEVEA: an interactive shiny application for Differential Expression analysis, data Visualization and Enrichment Analysis of transcriptomics data | Riquelme-Perez M, Perez-Sanz F, Deleuze JF, Escartin C, Bonnet E and Brohard S | | | | Region-specific expression of young small-scale duplications in the human central nervous system | Brohard-Julien S, Frouin V, Meyer V, Chalabi S, Deleuze JF, Le Floch E and Battail C | | | | Comparison of commercially available whole-genome sequencing kits for variant detection in circulating cell-free DNA | Mauger F, Horgues C, Pierre-Jean M, Oussada N, Mesrob L and Deleuze JF | | | | RA-map: building a state-of-the-art interactive knowledge base for rheumatoid arthritis | Singh V, Kalliolias GD, Ostaszewski M, Veyssiere M, Pilalis E, Gawron P, Mazein A, Bonnet E, Petit-Teixeira E and Niarakis A | | | | Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization | Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Mau-Them FT, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF and Sanlaville D | | | | Learning Differential Module Networks Across Multiple Experimental Conditions | Erola P, Bonnet E and Michoel T | | | | Systematic analysis of TruSeq, SMARTer and SMARTer Ultra-Low RNA-seq kits for standard, low and ultra-low quantity samples | Palomares MA, Dalmasso C, Bonnet E, Derbois C, Brohard-Julien S, Christopheambroise, Battail C, Deleuze JF and Olaso R | | | | Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders | Zeitz C, Michiels C, Neuille M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, M NP, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanche H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, R KK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, F LM, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA and Audo I | | | | Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples | Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delepine M, Palomares MA, Jubin C, Blanche H, Meyer V, Boland A, Olaso R and Deleuze JF | | | | Whole-Genome Bisulfite Sequencing for the Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution | Kernaleguen M, Daviaud C, Shen Y, Bonnet E, Renault V, Deleuze JF, Mauger F and Tost J | | | | Genetic association analyses highlight biological pathways underlying mitral valve prolapse | Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J, Le Tourneau T, Chen MH, Probst V, Bosse Y, Pibarot P, Zelenika D, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, Ellinor PT, Vasan RS, Bruneval P, Markwald RR, Norris RA, Milan DJ, Slaugenhaupt SA, Levine RA, Schott JJ, Hagege AA, Jeunemaitre X, Investigators P, France MVP and Leducq Transatlantic MN | | | | MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates | Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, de Bellaing AM, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschke P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW and Gordon CT | | |
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