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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Viora-Dupont E, Robert F, Chassagne A, Pélissier A, Staraci S, Sanlaville D, Edery P, Lesca G, Putoux A, Pons L, Cadenes A, Baurand A, Sawka C, Bertolone G, Spetchian M, Yousfi M, Salvi D, Gautier E, Vitobello A, Denommé-Pichon AS, Bruel AL, Tran Mau-Them F, Faudet A, Keren B, Labalme A, Chatron N, Abel C, Dupuis-Girod S, Poisson A, Buratti J, Mignot C, Afenjar A, Whalen S, Charles P, Heide S, Mouthon L, Moutton S, Sorlin A, Nambot S, Briffaut AS, Asensio ML, Philippe C, Thauvin-Robinet C, Héron D, Rossi M, Meunier-Bellard N, Gargiulo M, Peyron C, Binquet C, Faivre L. Viora-Dupont E, et al. Among authors: lesca g. Eur J Hum Genet. 2024 May 27. doi: 10.1038/s41431-024-01616-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38802530
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU; SYNAPS Study Group; Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H. Aughey G, et al. Among authors: lesca g. medRxiv [Preprint]. 2024 May 5:2024.05.03.24306631. doi: 10.1101/2024.05.03.24306631. medRxiv. 2024. PMID: 38746364 Free PMC article. Preprint.
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A. Talarico M, et al. Among authors: lesca g. Epilepsia Open. 2024 Jun;9(3):951-959. doi: 10.1002/epi4.12920. Epub 2024 Mar 27. Epilepsia Open. 2024. PMID: 38544349 Free PMC article.
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons C, Trivisano M, Kabulashvili T, Specchio N, Lesca G, Arzimanoglou A. Papadopoulou MT, et al. Among authors: lesca g. Epilepsia Open. 2024 Jun;9(3):996-1006. doi: 10.1002/epi4.12930. Epub 2024 Mar 22. Epilepsia Open. 2024. PMID: 38517305 Free PMC article.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Among authors: lesca g. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Tusseau M, Eyries M, Chatron N, Coulet F, Guichet A, Colin E, Demeer B, Maillard H, Thevenon J, Lavigne C, Saillour V, Paris C, De Sainte Agathe JM, Pujalte M, Guilhem A, Dupuis-Girod S, Lesca G. Tusseau M, et al. Among authors: lesca g. Eur J Med Genet. 2024 Apr;68:104919. doi: 10.1016/j.ejmg.2024.104919. Epub 2024 Feb 12. Eur J Med Genet. 2024. PMID: 38355093 Free article.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: lesca g. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: lesca g. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: lesca g. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
300 results