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Page 1
How local reference panels improve imputation in French populations.
Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Among authors: redon r. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Among authors: redon r. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Belot A, Rice GI, Omarjee SO, Rouchon Q, Smith EMD, Moreews M, Tusseau M, Frachette C, Bournhonesque R, Thielens N, Gaboriaud C, Rouvet I, Chopin E, Hoshino A, Latour S, Ranchin B, Cimaz R, Romagnani P, Malcus C, Fabien N, Sarda MN, Kassai B, Lega JC, Decramer S, Abou-Jaoude P, Bruce IN, Simonet T, Bardel C, Rollat-Farnier PA, Viel S, Reumaux H, O'Sullivan J, Walzer T, Mathieu AL, Marenne G, Ludwig T, Genin E, Ellingford J, Bader-Meunier B, Briggs TA, Beresford MW, Crow YJ; FREX Consortium; GENIAL Investigators; UK JSLE Study Group. Belot A, et al. Lancet Rheumatol. 2020 Feb;2(2):e99-e109. doi: 10.1016/S2665-9913(19)30142-0. Epub 2020 Jan 13. Lancet Rheumatol. 2020. PMID: 38263665
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Geryk M, Canac R, Forest V, Lindenbaum P, Girardeau A, Baudic M, Baron E, Bibonne A, Chariau C, Kyndt F, Redon R, Schott JJ, Gourraud JB, Barc J, Charpentier F. Geryk M, et al. Among authors: redon r. Stem Cell Res. 2024 Jun;77:103396. doi: 10.1016/j.scr.2024.103396. Epub 2024 Mar 21. Stem Cell Res. 2024. PMID: 38522388 Free article.
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
Vignard V, Baruteau AE, Toutain B, Mercier S, Isidor B, Redon R, Schott JJ, Küry S, Bézieau S, Monsoro-Burq AH, Ebstein F. Vignard V, et al. Among authors: redon r. Front Cell Dev Biol. 2024 Jul 12;12:1370905. doi: 10.3389/fcell.2024.1370905. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 39071803 Free PMC article.
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.
Rimbert A, Duval D, Trujillano D, Kyndt F, Jobbe-Duval A, Lindenbaum P, Tucker N, Lecointe S, Labbé P, Toquet C, Karakachoff M, Roussel JC, Baufreton C, Bruneval P, Cueff C, Donal E, Redon R, Olaso R, Boland A, Deleuze JF; FranceGenRef Consortium; Estivill X, Slaugenhaupt S, Markwald RR, Norris RA, Verhoye JP, Probst V, Hagège A, Levine R, Jeunemaitre X, Marec HL, Capoulade R, Bouatia-Naji N, Dina C, Milan D, Ossowski S, Schott JJ, Mérot J, Scouarnec SL, Tourneau TL. Rimbert A, et al. Among authors: redon r. medRxiv [Preprint]. 2024 Oct 17:2024.10.16.24315096. doi: 10.1101/2024.10.16.24315096. medRxiv. 2024. PMID: 39484266 Free PMC article. Preprint.
Location of intracranial aneurysms is the main factor associated with rupture in the ICAN population.
Rousseau O, Karakachoff M, Gaignard A, Bellanger L, Bijlenga P, Constant Dit Beaufils P, L'Allinec V, Levrier O, Aguettaz P, Desilles JP, Michelozzi C, Marnat G, Vion AC, Loirand G, Desal H, Redon R, Gourraud PA, Bourcier R; ICAN Investigators. Rousseau O, et al. Among authors: redon r. J Neurol Neurosurg Psychiatry. 2021 Feb;92(2):122-128. doi: 10.1136/jnnp-2020-324371. Epub 2020 Oct 23. J Neurol Neurosurg Psychiatry. 2021. PMID: 33097563
Left Ventricular Abnormal Substrate in Brugada Syndrome.
Cheniti G, Haissaguerre M, Dina C, Kamakura T, Duchateau J, Sacher F, Racine HP, Surget E, Simonet F, Gourraud JB, Sridi S, Cochet H, Andre C, Bouyer B, Chauvel R, Tixier R, Derval N, Pambrun T, Dubois R, Jais P, Nademanee K, Redon R, Schott JJ, Probst V, Hocini M, Barc J, Bernus O. Cheniti G, et al. Among authors: redon r. JACC Clin Electrophysiol. 2023 Oct;9(10):2041-2051. doi: 10.1016/j.jacep.2023.05.039. Epub 2023 Jul 19. JACC Clin Electrophysiol. 2023. PMID: 37480873 Free article.
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.
Ishikawa T, Masuda T, Hachiya T, Dina C, Simonet F, Nagata Y, Tanck MWT, Sonehara K, Glinge C, Tadros R, Khongphatthanayothin A, Lu TP, Higuchi C, Nakajima T, Hayashi K, Aizawa Y, Nakano Y, Nogami A, Morita H, Ohno S, Aiba T, Krijger Juárez C, Mauleekoonphairoj J, Poovorawan Y, Gourraud JB, Shimizu W, Probst V, Horie M, Wilde AAM, Redon R, Juang JJ, Nademanee K, Bezzina CR, Barc J, Tanaka T, Okada Y, Schott JJ, Makita N. Ishikawa T, et al. Among authors: redon r. Eur Heart J. 2024 Jul 9;45(26):2320-2332. doi: 10.1093/eurheartj/ehae251. Eur Heart J. 2024. PMID: 38747976
161 results