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Page 1
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charrière S, Peretti N, Valéro R, Wargny M, Carrié A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B, Di Filippo M. Rimbert A, et al. Among authors: rollat farnier pa. Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):e63-e71. doi: 10.1161/ATVBAHA.120.315491. Epub 2020 Nov 19. Arterioscler Thromb Vasc Biol. 2021. PMID: 33207932 Free article.
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, Tauveron I, Bardel C, Millat G, Peretti N, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: rollat farnier pa. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A. Le Caignec C, et al. Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591517 Free PMC article.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Corominas Galbany J, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C. Chatron N, et al. Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12. Hum Mutat. 2019. PMID: 31230393
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D. Uguen K, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27. Mol Genet Genomic Med. 2020. PMID: 31985172 Free PMC article.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Schluth-Bolard C, et al. J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28. J Med Genet. 2019. PMID: 30923172
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