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Page 1
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V, Guitton C, Thuret I, Rose C, Bendelac L, Ghazal K, Aguilar-Martinez P, Badens C, Barro C, Bénéteau C, Berger C, Cathébras P, Deconinck E, Delaunay J, Durand JM, Firah N, Galactéros F, Godeau B, Jaïs X, de Jaureguiberry JP, Le Stradic C, Lifermann F, Maffre R, Morin G, Perrin J, Proulle V, Ruivard M, Toutain F, Lahary A, Garçon L. Picard V, et al. Among authors: beneteau c. Haematologica. 2019 Aug;104(8):1554-1564. doi: 10.3324/haematol.2018.205328. Epub 2019 Jan 17. Haematologica. 2019. PMID: 30655378 Free PMC article.
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: beneteau c. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina C, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin C, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: beneteau c. medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158. medRxiv. 2024. PMID: 39252907 Free PMC article. Preprint.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Liu H, Giguet-Valard AG, Simonet T, Szenker-Ravi E, Lambert L, Vincent-Delorme C, Scheidecker S, Fradin M, Morice-Picard F, Naudion S, Ciorna-Monferrato V, Colin E, Fellmann F, Blesson S, Jouk PS, Francannet C, Petit F, Moutton S, Lehalle D, Chassaing N, El Zein L, Bazin A, Bénéteau C, Attié-Bitach T, Hanu SM, Brechard MP, Chiesa J, Pasquier L, Rooryck-Thambo C, Van Maldergem L, Cabrol C, El Chehadeh S, Vasiljevic A, Isidor B, Abel C, Thevenon J, Di Filippo S, Vigouroux-Castera A, Attia J, Quelin C, Odent S, Piard J, Giuliano F, Putoux A, Khau Van Kien P, Yardin C, Touraine R, Reversade B, Bouvagnet P. Liu H, et al. Among authors: beneteau c. Hum Mutat. 2020 Dec;41(12):2167-2178. doi: 10.1002/humu.24132. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 33131162
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Lesieur-Sebellin M, et al. Among authors: beneteau c. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C. Thierry G, et al. Among authors: beneteau c. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678713 Free article.
77 results