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Page 1
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: gouy e. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J, Engel C, Quartier A, Drouot N, Houessou U, Plassard D, Sorlin A, Brischoux-Boucher E, Gouy E, Van Maldergem L, Rossi M, Lesca G, Edery P, Putoux A, Bilan F, Gilbert-Dussardier B, Atallah I, Kalscheuer VM, Mandel JL, Piton A. Courraud J, et al. Among authors: gouy e. Mol Psychiatry. 2023 Nov 29. doi: 10.1038/s41380-023-02323-5. Online ahead of print. Mol Psychiatry. 2023. PMID: 38030819
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: gouy 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.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Sabbagh Q, et al. Among authors: gouy e. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860968
Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.
Janin A, Gouy E, Putoux A, Perouse-de-Monclos T, Chevalier P, Faucherre A, Mancilla Abaroa J, Jopling C, Collardeau Frachon S, Radojevic J, El Chehadeh S, Millat G. Janin A, et al. Among authors: gouy e. Circ Genom Precis Med. 2023 Jun;16(3):277-279. doi: 10.1161/CIRCGEN.122.003881. Epub 2023 Apr 4. Circ Genom Precis Med. 2023. PMID: 37013823 Free article. No abstract available.
16 results