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Page 1
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: dina c. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
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.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 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. Among authors: dina c. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
Common Genetic Variation and Age of Onset of Anorexia Nervosa.
Watson HJ, Thornton LM, Yilmaz Z, Baker JH, Coleman JRI, Adan RAH, Alfredsson L, Andreassen OA, Ask H, Berrettini WH, Boehnke M, Boehm I, Boni C, Buehren K, Bulant J, Burghardt R, Chang X, Cichon S, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, de Zwaan M, Dedoussis G, DeSocio JE, Dick DM, Dikeos D, Dina C, Djurovic S, Dmitrzak-Weglarz M, Docampo-Martinez E, Duriez P, Egberts K, Ehrlich S, Eriksson JG, Escaramís G, Esko T, Estivill X, Farmer A, Fernández-Aranda F, Fichter MM, Föcker M, Foretova L, Forstner AJ, Frei O, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Gratacòs M, Guillaume S, Guo Y, Hakonarson H, Hauser J, Havdahl A, Hebebrand J, Helder SG, Herms S, Herpertz-Dahlmann B, Herzog W, Hinney A, Hübel C, Hudson JI, Imgart H, Jamain S, Janout V, Jiménez-Murcia S, Jones IR, Julià A, Kalsi G, Kaminská D, Kaprio J, Karhunen L, Kas MJH, Keel PK, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Klareskog L, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Leboyer M, Li D, Lilenfeld L, Lin B, Lissowska J, Luykx J, Magistretti P, Maj M, Marsal S, Marshall CR, Mattingsdal M, Meulenbelt I, Micali N, Mitchell KS, Monteleone AM, Monteleone P, Myers R, Navratilova M,… See abstract for full author list ➔ Watson HJ, et al. Among authors: dina c. Biol Psychiatry Glob Open Sci. 2021 Sep 20;2(4):368-378. doi: 10.1016/j.bpsgos.2021.09.001. eCollection 2022 Oct. Biol Psychiatry Glob Open Sci. 2021. PMID: 36324647 Free PMC article.
The Lin28/let-7 axis regulates glucose metabolism.
Zhu H, Shyh-Chang N, Segrè AV, Shinoda G, Shah SP, Einhorn WS, Takeuchi A, Engreitz JM, Hagan JP, Kharas MG, Urbach A, Thornton JE, Triboulet R, Gregory RI; DIAGRAM Consortium; MAGIC Investigators; Altshuler D, Daley GQ. Zhu H, et al. Cell. 2011 Sep 30;147(1):81-94. doi: 10.1016/j.cell.2011.08.033. Cell. 2011. PMID: 21962509 Free PMC article.
Genetics and pathophysiology of mitral valve prolapse.
Delwarde C, Capoulade R, Mérot J, Le Scouarnec S, Bouatia-Naji N, Yu M, Huttin O, Selton-Suty C, Sellal JM, Piriou N, Schott JJ, Dina C, Le Tourneau T. Delwarde C, et al. Among authors: dina c. Front Cardiovasc Med. 2023 Feb 16;10:1077788. doi: 10.3389/fcvm.2023.1077788. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 36873395 Free PMC article. Review.
Genomic ancestry and social dynamics of the last hunter-gatherers of Atlantic France.
Simões LG, Peyroteo-Stjerna R, Marchand G, Bernhardsson C, Vialet A, Chetty D, Alaçamlı E, Edlund H, Bouquin D, Dina C, Garmond N, Günther T, Jakobsson M. Simões LG, et al. Among authors: dina c. Proc Natl Acad Sci U S A. 2024 Mar 5;121(10):e2310545121. doi: 10.1073/pnas.2310545121. Epub 2024 Feb 26. Proc Natl Acad Sci U S A. 2024. PMID: 38408241 Free PMC article.
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: dina c. 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
225 results