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Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: hill aj. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Karczewski KJ, MacArthur DG. Wang Q, et al. Among authors: hill aj. Nat Commun. 2020 May 27;11(1):2539. doi: 10.1038/s41467-019-12438-5. Nat Commun. 2020. PMID: 32461613 Free PMC article.
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Karczewski KJ, MacArthur DG. Wang Q, et al. Among authors: hill aj. Nat Commun. 2021 Feb 2;12(1):827. doi: 10.1038/s41467-021-21077-8. Nat Commun. 2021. PMID: 33531481 Free PMC article. No abstract available.
On the design of CRISPR-based single-cell molecular screens.
Hill AJ, McFaline-Figueroa JL, Starita LM, Gasperini MJ, Matreyek KA, Packer J, Jackson D, Shendure J, Trapnell C. Hill AJ, et al. Nat Methods. 2018 Apr;15(4):271-274. doi: 10.1038/nmeth.4604. Epub 2018 Feb 19. Nat Methods. 2018. PMID: 29457792 Free PMC article.
The single-cell transcriptional landscape of mammalian organogenesis.
Cao J, Spielmann M, Qiu X, Huang X, Ibrahim DM, Hill AJ, Zhang F, Mundlos S, Christiansen L, Steemers FJ, Trapnell C, Shendure J. Cao J, et al. Among authors: hill aj. Nature. 2019 Feb;566(7745):496-502. doi: 10.1038/s41586-019-0969-x. Epub 2019 Feb 20. Nature. 2019. PMID: 30787437 Free PMC article.
A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens.
Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J. Gasperini M, et al. Among authors: hill aj. Cell. 2019 Jan 10;176(1-2):377-390.e19. doi: 10.1016/j.cell.2018.11.029. Epub 2019 Jan 3. Cell. 2019. PMID: 30612741 Free PMC article.
Multimodal single-cell analysis reveals distinct radioresistant stem-like and progenitor cell populations in murine glioma.
Alexander J, LaPlant QC, Pattwell SS, Szulzewsky F, Cimino PJ, Caruso FP, Pugliese P, Chen Z, Chardon F, Hill AJ, Spurrell C, Ahrendsen D, Pietras A, Starita LM, Hambardzumyan D, Iavarone A, Shendure J, Holland EC. Alexander J, et al. Among authors: hill aj. Glia. 2020 Dec;68(12):2486-2502. doi: 10.1002/glia.23866. Epub 2020 Jul 4. Glia. 2020. PMID: 32621641 Free PMC article.
425 results