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Page 1
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D. Husson T, et al. Among authors: cassinari k. Transl Psychiatry. 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7. Transl Psychiatry. 2020. PMID: 32094338 Free PMC article.
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.
Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T; FREX Consortium; Campion D, Hébert SS, Rovelet-Lecrux A. Boscher E, et al. Among authors: cassinari k. J Alzheimers Dis. 2019;68(3):1243-1255. doi: 10.3233/JAD-180940. J Alzheimers Dis. 2019. PMID: 30909216
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: cassinari k. Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12. Hum Mutat. 2019. PMID: 31230393
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P. Cassinari K, et al. Clin Chem. 2019 Sep;65(9):1153-1160. doi: 10.1373/clinchem.2019.304246. Epub 2019 Jul 10. Clin Chem. 2019. PMID: 31292136
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, Boidin D, Lefol C, Naïbo P, Frébourg T, Buisine MP, Baert-Desurmont S; French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC). Wang Q, et al. Among authors: cassinari k. J Med Genet. 2020 Jul;57(7):487-499. doi: 10.1136/jmedgenet-2019-106256. Epub 2020 Jan 28. J Med Genet. 2020. PMID: 31992580
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL, Nicolas G. Cassinari K, et al. Mov Disord. 2020 Aug;35(8):1336-1345. doi: 10.1002/mds.28090. Epub 2020 Jun 7. Mov Disord. 2020. PMID: 32506582
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: cassinari k. 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.
27 results