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55 results

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Page 1
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: ludwig te. Atherosclerosis. 2024 Dec;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Epub 2024 Sep 13. Atherosclerosis. 2024. PMID: 39500114 Free article.
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. 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. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
Guidelines for managing and using the digital phenotypes of pluripotent stem cell lines.
Wells CA, Guhr A, Bairoch A, Chen Y, Hu M, Löser P, Ludwig TE, Mah N, Mueller SC, Seiler Wulczyn AEM, Seltmann S, Rossbach B, Kurtz A. Wells CA, et al. Among authors: ludwig te. Stem Cell Reports. 2024 Oct 8;19(10):1369-1378. doi: 10.1016/j.stemcr.2024.08.009. Epub 2024 Sep 26. Stem Cell Reports. 2024. PMID: 39332404 Free PMC article. Review.
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: ludwig te. Nat Commun. 2024 Aug 7;15(1):6710. doi: 10.1038/s41467-024-51087-1. Nat Commun. 2024. PMID: 39112481 Free PMC article.
Feeder-free culture of human pluripotent stem cells drives MDM4-mediated gain of chromosome 1q.
Stavish D, Price CJ, Gelezauskaite G, Alsehli H, Leonhard KA, Taapken SM, McIntire EM, Laing O, James BM, Riley JJ, Zerbib J, Baker D, Harding AL, Jestice LH, Eleveld TF, Gillis AJM, Hillenius S, Looijenga LHJ, Gokhale PJ, Ben-David U, Ludwig TE, Barbaric I. Stavish D, et al. Among authors: ludwig te. Stem Cell Reports. 2024 Aug 13;19(8):1217-1232. doi: 10.1016/j.stemcr.2024.06.003. Epub 2024 Jul 3. Stem Cell Reports. 2024. PMID: 38964325 Free PMC article.
ISSCR standards for the use of human stem cells in basic research.
Ludwig TE, Andrews PW, Barbaric I, Benvenisty N, Bhattacharyya A, Crook JM, Daheron LM, Draper JS, Healy LE, Huch M, Inamdar MS, Jensen KB, Kurtz A, Lancaster MA, Liberali P, Lutolf MP, Mummery CL, Pera MF, Sato Y, Shimasaki N, Smith AG, Song J, Spits C, Stacey G, Wells CA, Zhao T, Mosher JT. Ludwig TE, et al. Stem Cell Reports. 2023 Sep 12;18(9):1744-1752. doi: 10.1016/j.stemcr.2023.08.003. Stem Cell Reports. 2023. PMID: 37703820 Free PMC article. Review.
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
Bocher O, Ludwig TE, Oglobinsky MS, Marenne G, Deleuze JF, Suryakant S, Odeberg J, Morange PE, Trégouët DA, Perdry H, Génin E. Bocher O, et al. Among authors: ludwig te. PLoS Genet. 2022 Sep 16;18(9):e1009923. doi: 10.1371/journal.pgen.1009923. eCollection 2022 Sep. PLoS Genet. 2022. PMID: 36112662 Free PMC article.
55 results