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Year Number of Results
2014 1
2015 2
2017 1
2018 1
2019 8
2020 7
2021 5
2022 3
2023 2
2024 0

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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.
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Vanhoye X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Charrière S, Cornélis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M. Vanhoye X, et al. Among authors: rollat farnier pa. Transl Res. 2023 May;255:119-127. doi: 10.1016/j.trsl.2022.12.002. Epub 2022 Dec 15. Transl Res. 2023. PMID: 36528340
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Giannuzzi G, et al. Among authors: rollat farnier pa. Mol Biol Evol. 2021 Dec 9;38(12):5576-5587. doi: 10.1093/molbev/msab244. Mol Biol Evol. 2021. PMID: 34464971 Free PMC article.
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Masson J, Pebrel-Richard C, Egloff M, Frétigny M, Beaumont M, Uguen K, Rollat-Farnier PA, Diguet F, Perthus I, Le Gudayer G, Haye D, Dupeyron MB, Putoux A, Raskin-Champion F, Till M, Chatron N, Doray B, Bardel C, Vinciguerra C, Sanlaville D, Schluth-Bolard C. Masson J, et al. Among authors: rollat farnier pa. Clin Genet. 2023 Apr;103(4):401-412. doi: 10.1111/cge.14291. Epub 2023 Jan 19. Clin Genet. 2023. PMID: 36576162
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. Among authors: rollat farnier pa. Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12. Hum Mutat. 2019. PMID: 31230393
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Ader F, Heide S, Marzin P, Afenjar A, Diguet F, Chantot Bastaraud S, Rollat-Farnier PA, Sanlaville D, Portnoï MF, Siffroi JP, Schluth-Bolard C. Ader F, et al. Among authors: rollat farnier pa. Eur J Med Genet. 2020 Apr;63(4):103776. doi: 10.1016/j.ejmg.2019.103776. Epub 2019 Sep 25. Eur J Med Genet. 2020. PMID: 31562959
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A, Rollat Farnier PA, Buisson A, Pinson S, Bentaher A, Lebecque S, Corvol H, Abou Taam R, Houdouin V, Bardel C, Roy P, Devouassoux G, Cottin V, Seve P, Bernaudin JF, Lim CX, Weichhart T, Valeyre D, Pacheco Y, Clement A, Nathan N; in the frame of GSF (Groupe Sarcoïdose France). Calender A, et al. Among authors: rollat farnier pa. BMC Med Genomics. 2018 Mar 6;11(1):23. doi: 10.1186/s12920-018-0338-x. BMC Med Genomics. 2018. PMID: 29510755 Free PMC 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
24 results