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Page 1
Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Hebrard B, Babonneau ML, Charron P, Consolino E, Dauriat B, Dupin-Deguine D, Fargeaud D, Farrugia A, Giguet-Valard AG, Guijarro D, Inamo J, Jeanneteau J, Mazzella JM, Michon CC, Millat G, Mouquet F, Oghina S, Pereon Y, Poinsignon V, Pompougnac J, Proukhnitzky J, Schaefer E, Sturtz F, Trosdorf M, Auguste A, Canali G, Combes A, Funalot B, Damy T. Hebrard B, et al. Among authors: schaefer e. Orphanet J Rare Dis. 2024 Oct 29;19(1):403. doi: 10.1186/s13023-024-03370-z. Orphanet J Rare Dis. 2024. PMID: 39472905 Free PMC article.
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Hermida A, Jedraszak G, Ader F, Denjoy I, Fressart V, Maury P, Beyls C, Bloch A, Clerici G, Daire E, Defaye P, Dupin-Deguine D, Garçon L, Klug D, Ginglinger E, Hermida JS, Jesel L, Khraiche D, Kubala M, Lacotte J, Laredo M, Leenhardt A, Le Guillou X, Lesaffre F, Maltret A, Magnin-Poull I, Marijon E, Nambot S, Neyroud N, Ninni S, Palmyre A, Pasquie JL, Proukhnitzky J, Reant P, Richard P, Rollin A, Rooryck C, Sacher F, Schaefer E, Vernier A, Winum PF, Wahbi K, Waintraub X, Waldmann V, Weber S, Zouaghi A, Charron P, Extramiana F, Gandjbakhch E. Hermida A, et al. Among authors: schaefer e. Heart Rhythm. 2024 Aug 10:S1547-5271(24)03136-9. doi: 10.1016/j.hrthm.2024.08.018. Online ahead of print. Heart Rhythm. 2024. PMID: 39134129
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: schaefer e. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, Coutant R, El Chehadeh S, Fradin M, Frazier A, Goldenberg A, Guillot P, Koumakis E, Mehsen-Cêtre N, Rossi M, Schaefer É, Sigaudy S, Porquet-Bordes V, Fontanges É, Letard P, Edouard T, Javier RM, Cohen-Solal M, Funck-Brentano T, Collet C. Mancini M, et al. Among authors: schaefer e. Calcif Tissue Int. 2024 Nov;115(5):591-598. doi: 10.1007/s00223-024-01288-z. Epub 2024 Sep 24. Calcif Tissue Int. 2024. PMID: 39316135
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C. Thomas H, et al. Among authors: schaefer e. J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. J Med Genet. 2024. PMID: 38937076 Free article.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Lançon A, Beaudouin A, Lambert L, Baurand A, Petit E, Schaefer E, Poirsier C, Piard J, Patay L, Garde A, Bournez M, Bertolone G, Kastner C, Tempé L, El Chehadeh S, Spodenkiewick M, Lissy L, Doco-Fenzy M, Cabrol C, Trouvé C, Brischoux EB, Cloteau M, Burtin A, Renaud M, Riviere A, Thomas Q, De Souza CS, Sawka C, Racine C, Robert M, Gautier E, Delanne J, Bertaut A, Thauvin-Robinet C, Faivre L, Nambot S. Lançon A, et al. Among authors: schaefer e. Eur J Med Genet. 2023 Oct;66(10):104841. doi: 10.1016/j.ejmg.2023.104841. Epub 2023 Sep 14. Eur J Med Genet. 2023. PMID: 37714374
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, Benusiglio PR. Gerasimenko A, et al. Among authors: schaefer e. Clin Genet. 2024 Jul;106(1):90-94. doi: 10.1111/cge.14515. Epub 2024 Feb 29. Clin Genet. 2024. PMID: 38424388
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: schaefer e. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
1,220 results