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Page 1
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: lefebvre m. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Lefebvre M, et al. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732226
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L. Bourchany A, et al. Among authors: lefebvre m. Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807864
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J. Lefebvre M, et al. J Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19. J Med Genet. 2018. PMID: 29459493
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C. Bourgon N, et al. Among authors: lefebvre m. Eur J Hum Genet. 2022 Aug;30(8):967-975. doi: 10.1038/s41431-022-01117-7. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577939 Free PMC article.
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Lehalle D, Jean-Marçais N, Lefebvre M, Vabres P, El Chehadeh-Djebbar S, Philippe C, Tran Mau-Them F, St-Onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière JB, Faivre L, Thauvin-Robinet C; Orphanomix Physicians' Group. Nambot S, et al. Among authors: lefebvre m. Genet Med. 2018 Jun;20(6):645-654. doi: 10.1038/gim.2017.162. Epub 2017 Nov 2. Genet Med. 2018. PMID: 29095811 Free article.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. Among authors: lefebvre m. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507 Free article.
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Lefebvre M, Beaufrere AM, Francannet C, Laurichesse H, Poe C, Jouan T, Troude B, Dechelotte P, Vabres P, Briard M, Mosca-Boidron AL, Duffourd Y, Faivre L, Thevenon J, Thauvin-Robinet C. Lefebvre M, et al. Am J Med Genet A. 2018 Nov;176(11):2509-2512. doi: 10.1002/ajmg.a.40515. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244529 No abstract available.
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N; Orphanomix Physicians’ Group; Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron AL, Callier P, Philippe C, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: lefebvre m. Genet Med. 2019 Jul;21(7):1657-1661. doi: 10.1038/s41436-018-0383-z. Epub 2018 Dec 19. Genet Med. 2019. PMID: 30563986 Free article.
893 results