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Page 1
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium; Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Rivas MA, et al. Among authors: macarthur dg. Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877. Science. 2015. PMID: 25954003 Free PMC article.
Pitfalls in performing genome-wide association studies on ratio traits.
McCaw ZR, Dey R, Somineni H, Amar D, Mukherjee S, Sandor K; insitro Research Team; Karaletsos T, Koller D, Aschard H, Smith GD, MacArthur D, O'Dushlaine C, Soare TW. McCaw ZR, et al. HGG Adv. 2025 Apr 10;6(2):100406. doi: 10.1016/j.xhgg.2025.100406. Epub 2025 Jan 15. HGG Adv. 2025. PMID: 39818621 Free PMC article.
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann ML; MitoMDT Diagnostic Network for Genomics and Omics; Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA. Hock DH, et al. Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z. Genome Med. 2025. PMID: 40400026 Free PMC article.
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
De Jonghe J, Kim HC, Adedeji A, Leitão E, Dawes R, Chen Y, Blakes AJ, Simons C, Rius R, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balton EV, Blanc P, Calame DG, Coutton C, Cunningham CA, Dargie N, Dipple KM, Du H, El Chehadeh S, Glass I, Gleeson JG, Grunewald O, Gueguen P, Harbuz R, Jacquemont ML, Leventer RJ, Marijon P, Messaoud O, Sultan T, Thauvin C, Vincent-Delorme C, Gulec EY, Thevenon J, Mendez R, MacArthur DG, Depienne C, Nava C, Whiffin N, Findlay GM. De Jonghe J, et al. Among authors: macarthur dg. medRxiv [Preprint]. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442. medRxiv. 2025. PMID: 40297424 Free PMC article. Preprint.
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.
Tanudisastro HA, Cuomo ASE, Weisburd B, Welland M, Spenceley E, Franklin M, Xue A, Bowen B, Wing K, Tang O, Gray M, Reis ALM, Margoliash J, Kurtas NE, Pullin JM, Lee AS, Brand H, Harper M, Bobowik K, Silk M, Marshall J, Bakiris V, Madala BS, Uren C, Bartie C, Senabouth A, Dashnow H, Fearnley L, Martin-Trujillo A, Dolzhenko E, Qiao Z, Grieve SM, Nguyen T, Ben-David E, Chen L, Farh KK, Talkowski M, Alexander SI, Siggs OM, Gruenschloss L, Nicholas HR, Piscionere J, Simons C, Wallace C, Gymrek M, Deveson IW, Hewitt AW, Figtree GA, de Lange KM, Powell JE, MacArthur DG. Tanudisastro HA, et al. Among authors: macarthur dg. bioRxiv [Preprint]. 2025 Apr 9:2024.11.02.621562. doi: 10.1101/2024.11.02.621562. bioRxiv. 2025. PMID: 40291654 Free PMC article. Preprint.
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: macarthur dg. Brain. 2025 Apr 3:awaf116. doi: 10.1093/brain/awaf116. Online ahead of print. Brain. 2025. PMID: 40177858
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Butters A, Thomson K, Harrington F, Henden N, McGuire K, Byrne AB, Bryen S, McGurk KA, Leask M, Ackerman MJ, Atherton J, Bos JM, Caleshu C, Day SM, Dunn K, Hayes I, Juang J, McGaughran J, Nowak N, Parikh VN, Ronan A, Semsarian C, Tardiff JC, Tiemensma M, Merriman TR, Ware JS, Skinner JR, MacArthur DG, Siggs OM, Bagnall RD, Ingles J. Butters A, et al. Among authors: macarthur dg. Eur Heart J. 2025 Apr 15;46(15):1446-1449. doi: 10.1093/eurheartj/ehaf001. Eur Heart J. 2025. PMID: 40038847 No abstract available.
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: macarthur dg. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041 Free PMC article.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, England EM, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. Lee AS, et al. Among authors: macarthur dg. Nat Commun. 2024 Sep 27;15(1):8268. doi: 10.1038/s41467-024-52463-7. Nat Commun. 2024. PMID: 39333082 Free PMC article.
253 results