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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: genin e. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF; French Exome Project Consortium; Haber M, Marshall G, Cairns MJ, Blay JY; International Sarcoma Kindred Study; Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Galligan E, G… See abstract for full author list ➔ Ballinger ML, et al. Among authors: genin e. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Odelin G, Faucherre A, Marchese D, Pinard A, Jaouadi H, Le Scouarnec S; FranceGenRef Consortium; Chiarelli R, Achouri Y, Faure E, Herbane M, Théron A, Avierinos JF, Jopling C, Collod-Béroud G, Rezsohazy R, Zaffran S. Odelin G, et al. Nat Commun. 2023 Mar 20;14(1):1543. doi: 10.1038/s41467-023-37110-x. Nat Commun. 2023. PMID: 36941270 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. Among authors: genin e. 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
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M, Rabès JP, Varret M. Azar Y, et al. Among authors: genin e. Atherosclerosis. 2024 Sep 13;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Online ahead of print. Atherosclerosis. 2024. PMID: 39500114 Free article.
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.
Ropert B, Bannwarth S, Genin EC, Vaillant-Beuchot L, Lacas-Gervais S, Hounoum BM, Bernardin A, Dinh N, Mauri-Crouzet A, D'Elia MA, Augé G, Lespinasse F, Di Giorgio A, Meira W, Bonnefoy N, Monassier L, Schiff M, Sago L, Kilinc D, Brau F, Redeker V, Bohl D, Tribouillard-Tanvier D, Procaccio V, Azoulay S, Ricci JE, Delahodde A, Paquis-Flucklinger V. Ropert B, et al. Among authors: genin ec. Brain. 2024 Oct 30:awae348. doi: 10.1093/brain/awae348. Online ahead of print. Brain. 2024. PMID: 39478664
PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Ogloblinsky MC, Bocher O, Aloui C, Leutenegger AL, Ozisik O, Baudot A, Tournier-Lasserve E, Castillo-Madeen H, Lewinsohn D, Conrad DF, Génin E, Marenne G. Ogloblinsky MC, et al. Among authors: genin e. Genet Epidemiol. 2024 Sep 24. doi: 10.1002/gepi.22593. Online ahead of print. Genet Epidemiol. 2024. PMID: 39318036
Human genetic structure in Northwest France provides new insights into West European historical demography.
Alves I, Giemza J, Blum MGB, Bernhardsson C, Chatel S, Karakachoff M, Saint Pierre A, Herzig AF, Olaso R, Monteil M, Gallien V, Cabot E, Svensson E, Bacq D, Baron E, Berthelier C, Besse C, Blanché H, Bocher O, Boland A, Bonnaud S, Charpentier E, Dandine-Roulland C, Férec C, Fruchet C, Lecointe S, Le Floch E, Ludwig TE, Marenne G, Meyer V, Quellery E, Racimo F, Rouault K, Sandron F, Schott JJ, Velo-Suarez L, Violleau J, Willerslev E, Coativy Y, Jézéquel M, Le Bris D, Nicolas C, Pailler Y, Goldberg M, Zins M, Le Marec H, Jakobsson M, Darlu P, Génin E, Deleuze JF, Redon R, Dina C. Alves I, et al. Among authors: genin e. Nat Commun. 2024 Aug 7;15(1):6710. doi: 10.1038/s41467-024-51087-1. Nat Commun. 2024. PMID: 39112481 Free PMC article.
312 results