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59 results

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Page 1
Genetic determinants of micronucleus formation in vivo.
Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, Turner G, Thompson NA, Harle V, Olvera-León R, Robles-Espinoza CD, Speak AO, Geisler N, Weninger WJ, Geyer SH, Hewinson J, Karp NA; Sanger Mouse Genetics Project; Fu B, Yang F, Kozik Z, Choudhary J, Yu L, van Ruiten MS, Rowland BD, Lelliott CJ, Del Castillo Velasco-Herrera M, Verstraten R, Bruckner L, Henssen AG, Rooimans MA, de Lange J, Mohun TJ, Arends MJ, Kentistou KA, Coelho PA, Zhao Y, Zecchini H, Perry JRB, Jackson SP, Balmus G. Adams DJ, et al. Among authors: lelliott cj. Nature. 2024 Mar;627(8002):130-136. doi: 10.1038/s41586-023-07009-0. Epub 2024 Feb 14. Nature. 2024. PMID: 38355793 Free PMC article.
An atlas of genetic influences on osteoporosis in humans and mice.
Morris JA, Kemp JP, Youlten SE, Laurent L, Logan JG, Chai RC, Vulpescu NA, Forgetta V, Kleinman A, Mohanty ST, Sergio CM, Quinn J, Nguyen-Yamamoto L, Luco AL, Vijay J, Simon MM, Pramatarova A, Medina-Gomez C, Trajanoska K, Ghirardello EJ, Butterfield NC, Curry KF, Leitch VD, Sparkes PC, Adoum AT, Mannan NS, Komla-Ebri DSK, Pollard AS, Dewhurst HF, Hassall TAD, Beltejar MG; 23andMe Research Team; Adams DJ, Vaillancourt SM, Kaptoge S, Baldock P, Cooper C, Reeve J, Ntzani EE, Evangelou E, Ohlsson C, Karasik D, Rivadeneira F, Kiel DP, Tobias JH, Gregson CL, Harvey NC, Grundberg E, Goltzman D, Adams DJ, Lelliott CJ, Hinds DA, Ackert-Bicknell CL, Hsu YH, Maurano MT, Croucher PI, Williams GR, Bassett JHD, Evans DM, Richards JB. Morris JA, et al. Among authors: lelliott cj. Nat Genet. 2019 Feb;51(2):258-266. doi: 10.1038/s41588-018-0302-x. Epub 2018 Dec 31. Nat Genet. 2019. PMID: 30598549 Free PMC article.
Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson's disease mouse model.
Fang TZ, Sun Y, Pearce AC, Eleuteri S, Kemp M, Luckhurst CA, Williams R, Mills R, Almond S, Burzynski L, Márkus NM, Lelliott CJ, Karp NA, Adams DJ, Jackson SP, Zhao JF, Ganley IG, Thompson PW, Balmus G, Simon DK. Fang TZ, et al. Among authors: lelliott cj. Nat Commun. 2023 Nov 13;14(1):7295. doi: 10.1038/s41467-023-42876-1. Nat Commun. 2023. PMID: 37957154 Free PMC article.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Duncan AR, et al. Among authors: lelliott cj. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. doi: 10.1016/j.ajhg.2020.11.001. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232677 Free PMC article.
Accelerating functional gene discovery in osteoarthritis.
Butterfield NC, Curry KF, Steinberg J, Dewhurst H, Komla-Ebri D, Mannan NS, Adoum AT, Leitch VD, Logan JG, Waung JA, Ghirardello E, Southam L, Youlten SE, Wilkinson JM, McAninch EA, Vancollie VE, Kussy F, White JK, Lelliott CJ, Adams DJ, Jacques R, Bianco AC, Boyde A, Zeggini E, Croucher PI, Williams GR, Bassett JHD. Butterfield NC, et al. Among authors: lelliott cj. Nat Commun. 2021 Jan 20;12(1):467. doi: 10.1038/s41467-020-20761-5. Nat Commun. 2021. PMID: 33473114 Free PMC article.
Performance of non-invasive tests and histology for the prediction of clinical outcomes in patients with non-alcoholic fatty liver disease: an individual participant data meta-analysis.
Mózes FE, Lee JA, Vali Y, Alzoubi O, Staufer K, Trauner M, Paternostro R, Stauber RE, Holleboom AG, van Dijk AM, Mak AL, Boursier J, de Saint Loup M, Shima T, Bugianesi E, Gaia S, Armandi A, Shalimar, Lupșor-Platon M, Wong VW, Li G, Wong GL, Cobbold J, Karlas T, Wiegand J, Sebastiani G, Tsochatzis E, Liguori A, Yoneda M, Nakajima A, Hagström H, Akbari C, Hirooka M, Chan WK, Mahadeva S, Rajaram R, Zheng MH, George J, Eslam M, Petta S, Pennisi G, Viganò M, Ridolfo S, Aithal GP, Palaniyappan N, Lee DH, Ekstedt M, Nasr P, Cassinotto C, de Lédinghen V, Berzigotti A, Mendoza YP, Noureddin M, Truong E, Fournier-Poizat C, Geier A, Martic M, Tuthill T, Anstee QM, Harrison SA, Bossuyt PM, Pavlides M; LITMUS investigators. Mózes FE, et al. Lancet Gastroenterol Hepatol. 2023 Aug;8(8):704-713. doi: 10.1016/S2468-1253(23)00141-3. Epub 2023 Jun 5. Lancet Gastroenterol Hepatol. 2023. PMID: 37290471 Free article.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: lelliott cj. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: lelliott cj. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
An unbiased ranking of murine dietary models based on their proximity to human metabolic dysfunction-associated steatotic liver disease (MASLD).
Vacca M, Kamzolas I, Harder LM, Oakley F, Trautwein C, Hatting M, Ross T, Bernardo B, Oldenburger A, Hjuler ST, Ksiazek I, Lindén D, Schuppan D, Rodriguez-Cuenca S, Tonini MM, Castañeda TR, Kannt A, Rodrigues CMP, Cockell S, Govaere O, Daly AK, Allison M, Honnens de Lichtenberg K, Kim YO, Lindblom A, Oldham S, Andréasson AC, Schlerman F, Marioneaux J, Sanyal A, Afonso MB, Younes R, Amano Y, Friedman SL, Wang S, Bhattacharya D, Simon E, Paradis V, Burt A, Grypari IM, Davies S, Driessen A, Yashiro H, Pors S, Worm Andersen M, Feigh M, Yunis C, Bedossa P, Stewart M, Cater HL, Wells S, Schattenberg JM, Anstee QM; LITMUS Investigators; Tiniakos D, Perfield JW, Petsalaki E, Davidsen P, Vidal-Puig A. Vacca M, et al. Nat Metab. 2024 Jun;6(6):1178-1196. doi: 10.1038/s42255-024-01043-6. Epub 2024 Jun 12. Nat Metab. 2024. PMID: 38867022 Free PMC article.
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.
Youlten SE, Kemp JP, Logan JG, Ghirardello EJ, Sergio CM, Dack MRG, Guilfoyle SE, Leitch VD, Butterfield NC, Komla-Ebri D, Chai RC, Corr AP, Smith JT, Mohanty ST, Morris JA, McDonald MM, Quinn JMW, McGlade AR, Bartonicek N, Jansson M, Hatzikotoulas K, Irving MD, Beleza-Meireles A, Rivadeneira F, Duncan E, Richards JB, Adams DJ, Lelliott CJ, Brink R, Phan TG, Eisman JA, Evans DM, Zeggini E, Baldock PA, Bassett JHD, Williams GR, Croucher PI. Youlten SE, et al. Among authors: lelliott cj. Nat Commun. 2021 May 5;12(1):2444. doi: 10.1038/s41467-021-22517-1. Nat Commun. 2021. PMID: 33953184 Free PMC article.
59 results