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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 6
2003 9
2004 3
2005 4
2006 7
2007 11
2008 7
2009 5
2010 4
2011 10
2012 8
2013 4
2014 15
2015 15
2016 9
2017 6
2018 9
2019 11
2020 13
2021 15
2022 13
2023 7
2024 3

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172 results

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Page 1
Expanding ACMG variant classification guidelines into a general framework.
Masson E, Zou WB, Génin E, Cooper DN, Le Gac G, Fichou Y, Pu N, Rebours V, Férec C, Liao Z, Chen JM. Masson E, et al. Among authors: genin e. Hum Genomics. 2022 Aug 16;16(1):31. doi: 10.1186/s40246-022-00407-x. Hum Genomics. 2022. PMID: 35974416 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
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: genin e. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Principals about principal components in statistical genetics.
Abegaz F, Chaichoompu K, Génin E, Fardo DW, König IR, Mahachie John JM, Van Steen K. Abegaz F, et al. Among authors: genin e. Brief Bioinform. 2019 Nov 27;20(6):2200-2216. doi: 10.1093/bib/bby081. Brief Bioinform. 2019. PMID: 30219892 Review.
Sensitive Skin: Lessons From Transcriptomic Studies.
Bataille A, Le Gall-Ianotto C, Genin E, Misery L. Bataille A, et al. Among authors: genin e. Front Med (Lausanne). 2019 May 28;6:115. doi: 10.3389/fmed.2019.00115. eCollection 2019. Front Med (Lausanne). 2019. PMID: 31192213 Free PMC article. Review.
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.
Rare variant association testing in the non-coding genome.
Bocher O, Génin E. Bocher O, et al. Among authors: genin e. Hum Genet. 2020 Nov;139(11):1345-1362. doi: 10.1007/s00439-020-02190-y. Epub 2020 Jun 4. Hum Genet. 2020. PMID: 32500240 Free article. Review.
172 results