{"id":77,"date":"2025-03-05T09:38:19","date_gmt":"2025-03-05T08:38:19","guid":{"rendered":"https:\/\/strateg-it.fr\/?p=77"},"modified":"2025-03-05T09:38:19","modified_gmt":"2025-03-05T08:38:19","slug":"publications-equipe-1","status":"publish","type":"post","link":"https:\/\/strateg-it.fr\/index.php\/2025\/03\/05\/publications-equipe-1\/","title":{"rendered":"Publications \u00e9quipe 1"},"content":{"rendered":"\n<ul class=\"wp-block-list\">\n<li>Perrin A, M\u00e9tay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Sol\u00e9 G, P\u00e9r\u00e9on Y, Bertini ES, Fattori F, D\u2019Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Mar\u00e9chal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Coss\u00e9e M.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37935568\/\" target=\"_blank\" rel=\"noreferrer noopener\">Titin copy number variations associated with dominant inherited phenotypes.\u00a0<em>J Med Genet<\/em>. 2023 Dec 7:jmg-2023-109473. doi: 10.1136\/jmg-2023-109473.<\/a><\/li>\n\n\n\n<li>Benarroch L*, Madsen-\u00d8sterbye J*, Abdelhalim M, Mamchaoui K, Ohana J, Bigot A, Mouly V, Bonne G, Bertrand AT*, Collas P*.\u00a0<a href=\"https:\/\/pubmed-ncbi-nlm-nih-gov.proxy.insermbiblio.inist.fr\/37566074\/\" target=\"_blank\" rel=\"noreferrer noopener\">Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts.\u00a0<\/a><em>Cells.<\/em>\u00a02023 Aug 3;12(15):1995. doi: 10.3390\/cells12151995. Co-first and Co-Last authors.<\/li>\n\n\n\n<li>Gregory EF, Kalra S, Brock T, Bonne G, Luxton GWG, Hopkins C, Starr DA.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37624850\/\" target=\"_blank\" rel=\"noreferrer noopener\">Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human\u00a0<em>LMNA<\/em>.\u00a0<em>PLoS Genet.<\/em>\u00a02023 Aug 25;19(8):e1010895. doi: 10.1371\/journal.pgen.1010895.<\/a><\/li>\n\n\n\n<li>Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larra\u00f1aga-Moreira JM, Medo K, Berm\u00fadez-Jim\u00e9nez FJ,\u00a0<em>Ben Yaou R, Leturq F,<\/em>\u00a0Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodr\u00edguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jim\u00e9nez-J\u00e1imez J, Garcia-Pavia P, Charron P, Biagini E, Garc\u00eda Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37639473\/\" target=\"_blank\" rel=\"noreferrer noopener\">Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure.\u00a0<em>Eur Heart J.<\/em>\u00a02023 Aug 28:ehad561. doi: 10.1093\/eurheartj\/ehad561.<\/a><\/li>\n\n\n\n<li>Stojkovic T, Masingue M, M\u00e9tay C, Romero NB, Eymard B, Ben Yaou R, Rialland L, Drunat S, Gartioux C, Nelson I, Allamand V, Bonne G, Villar-Quiles RN.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36373293\/\" target=\"_blank\" rel=\"noreferrer noopener\">LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.\u00a0<em>J Neuromuscul Dis<\/em>. 2023;10(1):125-133. doi: 10.3233\/JND-221555.2022.\u00a0<\/a><\/li>\n\n\n\n<li>Denomm\u00e9-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Mar\u00e7ais N, Kleefstra T, L\u00f3pez-Mart\u00edn E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group*; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36681873\/\" target=\"_blank\" rel=\"noreferrer noopener\">A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.\u00a0<em>Genet Med.<\/em>\u00a02023 Apr;25(4):100018. doi: 10.1016\/j.gim.2023.100018.<\/a>\u00a0*I. Nelson as I as part of Solve-RD SNV-indel Working Group*<\/li>\n\n\n\n<li>Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium*.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37138343\/\" target=\"_blank\" rel=\"noreferrer noopener\">Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.\u00a0<em>Hum Genomics<\/em>. 2023 May 3;17(1):39. doi: 10.1186\/s40246-023-00485-5.<\/a>\u00a0*G Bonne, T Evangelista, V Allamand, I Nelson, R Ben Yaou, C Metay, E Cohen, A Atalaia, T Stojkovic as part of Solve-RD consortium.<\/li>\n\n\n\n<li>Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium*; Varshney GK, Banka S.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37009414\/\" target=\"_blank\" rel=\"noreferrer noopener\">Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.\u00a0<em>HGG Adv.<\/em>\u00a02023 Mar 3;4(2):100186. doi: 10.1016\/j.xhgg.2023.100186.<\/a>\u00a0*G Bonne, T Evangelista, V Allamand, I Nelson, R Ben Yaou, C Metay, E Cohen, A Atalaia, T Stojkovic as part of Solve-RD consortium<\/li>\n<\/ul>\n\n\n\n<p><strong>Revues<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Benarroch L, Bonne G, Rivier F, Hamroun D<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36697115\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u00a0The 2023 version of the gene table of neuromuscular disorders (nuclear genome).\u00a0<em>Neuromuscul Disord.<\/em>\u00a02023 Jan;33(1):76-117. doi: 10.1016\/j.nmd.2022.12.002.<\/a><\/li>\n\n\n\n<li>Maggi L, Quijano-Roy S, B\u00f6nnemann C, Bonne G, and 253rd ENMC Laminopathies workshop study group.\u00a0<a href=\"https:\/\/pubmed-ncbi-nlm-nih-gov.proxy.insermbiblio.inist.fr\/37235886\/\" target=\"_blank\" rel=\"noreferrer noopener\">253rd ENMC international workshop: Striated muscle laminopathies \u2013 natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, the Netherlands.\u00a0<\/a><em>Neuromuscul Disord.<\/em>\u00a02023 Jun;33(6):498-510. doi: 10.1016\/j.nmd.2023.04.009.<\/li>\n\n\n\n<li>Allamand V, Bonne G. [<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37975775\/\" target=\"_blank\" rel=\"noreferrer noopener\">A new Filnemus research working group: GT-MEC].\u00a0<em>Med Sci<\/em>\u00a0(Paris). 2023 Nov;39 Hors s\u00e9rie n\u00b0 1:66. doi: 10.1051\/medsci\/2023140.<\/a><\/li>\n\n\n\n<li>Allamand V.\u00a0<a href=\"https:\/\/pubmed-ncbi-nlm-nih-gov.proxy.insermbiblio.inist.fr\/37975777\/\" target=\"_blank\" rel=\"noreferrer noopener\">[A tribute to Jeannette Erdmann].\u00a0<\/a><em>Med Sci<\/em>\u00a0(Paris). 2023 Nov;39 Hors s\u00e9rie n\u00b0 1:72-73. doi: 10.1051\/medsci\/2023137.<\/li>\n\n\n\n<li>Benarroch L.\u00a0<a href=\"https:\/\/pubmed-ncbi-nlm-nih-gov.proxy.insermbiblio.inist.fr\/37975774\/\" target=\"_blank\" rel=\"noreferrer noopener\">[CRIPSR-Cas9: A therapeutic strategy for laminopathies?].\u00a0<\/a><em>Med Sci\u00a0<\/em>(Paris). 2023 Nov;39 Hors s\u00e9rie n\u00b0 1:65. doi: 10.1051\/medsci\/2023139.\u00a0<\/li>\n\n\n\n<li>Benarroch L, Bonne G, Rivier F, Hamroun D.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38253411\/\" target=\"_blank\" rel=\"noreferrer noopener\">The 2024 version of the gene table of neuromuscular disorders (nuclear genome).\u00a0<em>Neuromuscul Disord.<\/em>\u00a02024 Jan;34:126-170. doi: 10.1016\/j.nmd.2023.12.007. Epub 2023 Dec 14.<\/a><\/li>\n\n\n\n<li>Mackels L, Liu X, Bonne G, Servais L.\u00a0<a href=\"https:\/\/pubmed-ncbi-nlm-nih-gov.proxy.insermbiblio.inist.fr\/37108075\/\" target=\"_blank\" rel=\"noreferrer noopener\"><em>TOR1AIP1<\/em>-Associated Nuclear Envelopathies.\u00a0<\/a>I<em>nt J Mol Sci.<\/em>\u00a02023 Apr 7;24(8):6911. doi: 10.3390\/ijms24086911.<\/li>\n<\/ol>\n\n\n\n<p>et<br><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Bonne+G\" target=\"_blank\" rel=\"noreferrer noopener\">http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Bonne+G<\/a><br><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Allamand+V\" target=\"_blank\" rel=\"noreferrer noopener\">http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Allamand+V<\/a><br><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Bertrand+AT\" target=\"_blank\" rel=\"noreferrer noopener\">http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Bertrand+AT<\/a><br><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Nelson+I\">http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Nelson+I<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Revues ethttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Bonne+Ghttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Allamand+Vhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Bertrand+AThttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Nelson+I<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"ocean_post_layout":"","ocean_both_sidebars_style":"","ocean_both_sidebars_content_width":0,"ocean_both_sidebars_sidebars_width":0,"ocean_sidebar":"","ocean_second_sidebar":"","ocean_disable_margins":"enable","ocean_add_body_class":"","ocean_shortcode_before_top_bar":"","ocean_shortcode_after_top_bar":"","ocean_shortcode_before_header":"","ocean_shortcode_after_header":"","ocean_has_shortcode":"","ocean_shortcode_after_title":"","ocean_shortcode_before_footer_widgets":"","ocean_shortcode_after_footer_widgets":"","ocean_shortcode_before_footer_bottom":"","ocean_shortcode_after_footer_bottom":"","ocean_display_top_bar":"default","ocean_display_header":"default","ocean_header_style":"","ocean_center_header_left_menu":"","ocean_custom_header_template":"","ocean_custom_logo":0,"ocean_custom_retina_logo":0,"ocean_custom_logo_max_width":0,"ocean_custom_logo_tablet_max_width":0,"ocean_custom_logo_mobile_max_width":0,"ocean_custom_logo_max_height":0,"ocean_custom_logo_tablet_max_height":0,"ocean_custom_logo_mobile_max_height":0,"ocean_header_custom_menu":"","ocean_menu_typo_font_family":"","ocean_menu_typo_font_subset":"","ocean_menu_typo_font_size":0,"ocean_menu_typo_font_size_tablet":0,"ocean_menu_typo_font_size_mobile":0,"ocean_menu_typo_font_size_unit":"px","ocean_menu_typo_font_weight":"","ocean_menu_typo_font_weight_tablet":"","ocean_menu_typo_font_weight_mobile":"","ocean_menu_typo_transform":"","ocean_menu_typo_transform_tablet":"","ocean_menu_typo_transform_mobile":"","ocean_menu_typo_line_height":0,"ocean_menu_typo_line_height_tablet":0,"ocean_menu_typo_line_height_mobile":0,"ocean_menu_typo_line_height_unit":"","ocean_menu_typo_spacing":0,"ocean_menu_typo_spacing_tablet":0,"ocean_menu_typo_spacing_mobile":0,"ocean_menu_typo_spacing_unit":"","ocean_menu_link_color":"","ocean_menu_link_color_hover":"","ocean_menu_link_color_active":"","ocean_menu_link_background":"","ocean_menu_link_hover_background":"","ocean_menu_link_active_background":"","ocean_menu_social_links_bg":"","ocean_menu_social_hover_links_bg":"","ocean_menu_social_links_color":"","ocean_menu_social_hover_links_color":"","ocean_disable_title":"default","ocean_disable_heading":"default","ocean_post_title":"","ocean_post_subheading":"","ocean_post_title_style":"","ocean_post_title_background_color":"","ocean_post_title_background":0,"ocean_post_title_bg_image_position":"","ocean_post_title_bg_image_attachment":"","ocean_post_title_bg_image_repeat":"","ocean_post_title_bg_image_size":"","ocean_post_title_height":0,"ocean_post_title_bg_overlay":0.5,"ocean_post_title_bg_overlay_color":"","ocean_disable_breadcrumbs":"default","ocean_breadcrumbs_color":"","ocean_breadcrumbs_separator_color":"","ocean_breadcrumbs_links_color":"","ocean_breadcrumbs_links_hover_color":"","ocean_display_footer_widgets":"default","ocean_display_footer_bottom":"default","ocean_custom_footer_template":"","ocean_post_oembed":"","ocean_post_self_hosted_media":"","ocean_post_video_embed":"","ocean_link_format":"","ocean_link_format_target":"self","ocean_quote_format":"","ocean_quote_format_link":"post","ocean_gallery_link_images":"on","ocean_gallery_id":[],"footnotes":""},"categories":[11],"tags":[],"class_list":["post-77","post","type-post","status-publish","format-standard","hentry","category-articles-recherche","entry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - 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