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Page 1
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L. Lehalle D, et al. Among authors: vezain m. Am J Med Genet A. 2022 Jul;188(7):2036-2047. doi: 10.1002/ajmg.a.62739. Epub 2022 Apr 21. Am J Med Genet A. 2022. PMID: 35445792 Review.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM, Nicolas G. Lecoquierre F, et al. Among authors: vezain m. Hum Genet. 2023 Jun;142(6):773-783. doi: 10.1007/s00439-023-02553-1. Epub 2023 Apr 19. Hum Genet. 2023. PMID: 37076692
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I. Heddar A, et al. Among authors: vezain m. Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25. Genes Chromosomes Cancer. 2017. PMID: 27636706
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E. Alstrup M, et al. Among authors: vezain m. Genet Med. 2024 Nov;26(11):101219. doi: 10.1016/j.gim.2024.101219. Epub 2024 Jul 18. Genet Med. 2024. PMID: 39033379
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Marguet F, Vezain M, Marcorelles P, Audebert-Bellanger S, Cassinari K, Drouot N, Chambon P, Gonzalez BJ, Horowitz A, Laquerriere A, Saugier-Veber P. Marguet F, et al. Among authors: vezain m. Acta Neuropathol Commun. 2021 Jun 6;9(1):104. doi: 10.1186/s40478-021-01207-5. Acta Neuropathol Commun. 2021. PMID: 34092257 Free PMC article.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Coursimault J, et al. Among authors: vezain m. Hum Mutat. 2022 Dec;43(12):1882-1897. doi: 10.1002/humu.24438. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842780
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea JA, Rolland A, Jacquin-Piques A, Fehrenbach S, Nicolas G, Lecoquierre F, Saugier-Veber P. Vezain M, et al. Hum Genet. 2023 Jan;142(1):125-138. doi: 10.1007/s00439-022-02473-6. Epub 2022 Sep 23. Hum Genet. 2023. PMID: 36138164
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF; FREX Consortium; Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A, Nicolas G. Quenez O, et al. Among authors: vezain m. Eur J Hum Genet. 2021 Jan;29(1):99-109. doi: 10.1038/s41431-020-0672-2. Epub 2020 Jun 26. Eur J Hum Genet. 2021. PMID: 32591635 Free PMC article.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, Caron O, Bressac-de Paillerets B, Vaur D, King MC, Harrison C, Frebourg T. Tournier I, et al. Among authors: vezain m. Hum Mutat. 2014 Mar;35(3):294-7. doi: 10.1002/humu.22489. Epub 2013 Dec 27. Hum Mutat. 2014. PMID: 24302632 Free PMC article.
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B, Snanoudj S, Dabaj I, Dranguet H, Abily-Donval L, Lebas A, Vezain M, Héron B, Marie I, Duval-Arnould M, Marret S, Tebani A, Bekri S. Sudrié-Arnaud B, et al. Among authors: vezain m. Diagnostics (Basel). 2021 Feb 12;11(2):294. doi: 10.3390/diagnostics11020294. Diagnostics (Basel). 2021. PMID: 33673364 Free PMC article.
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