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A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Nature. 2010. PMID: 20981092 Free PMC article.
Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.
Handsaker RE, Kashin S, Reed NM, Tan S, Lee WS, McDonald TM, Morris K, Kamitaki N, Mullally CD, Morakabati NR, Goldman M, Lind G, Kohli R, Lawton E, Hogan M, Ichihara K, Berretta S, McCarroll SA. Handsaker RE, et al. Among authors: mccarroll sa. Cell. 2025 Jan 14:S0092-8674(24)01379-5. doi: 10.1016/j.cell.2024.11.038. Online ahead of print. Cell. 2025. PMID: 39824182
Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat SM, Kentistou KA, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman BR, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman ND, Song L, Gardner EJ; FinnGen; Estonian Biobank Research Team; Breast Cancer Association Consortium; Million Veteran Program; Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: mccarroll sa. Nature. 2024 Dec;636(8043):E7. doi: 10.1038/s41586-024-08215-0. Nature. 2024. PMID: 39627447 No abstract available.
Calcium-permeable AMPA receptors govern PV neuron feature selectivity.
Hong I, Kim J, Hainmueller T, Kim DW, Keijser J, Johnson RC, Park SH, Limjunyawong N, Yang Z, Cheon D, Hwang T, Agarwal A, Cholvin T, Krienen FM, McCarroll SA, Dong X, Leopold DA, Blackshaw S, Sprekeler H, Bergles DE, Bartos M, Brown SP, Huganir RL. Hong I, et al. Among authors: mccarroll sa. Nature. 2024 Nov;635(8038):398-405. doi: 10.1038/s41586-024-08027-2. Epub 2024 Oct 2. Nature. 2024. PMID: 39358515 Free PMC article.
Transcriptome-wide characterization of genetic perturbations.
Nadig A, Replogle JM, Pogson AN, McCarroll SA, Weissman JS, Robinson EB, O'Connor LJ. Nadig A, et al. Among authors: mccarroll sa. bioRxiv [Preprint]. 2024 Jul 3:2024.07.03.601903. doi: 10.1101/2024.07.03.601903. bioRxiv. 2024. PMID: 39005298 Free PMC article. Preprint.
Distinct genetic liability profiles define clinically relevant patient strata across common diseases.
Trastulla L, Dolgalev G, Moser S, Jiménez-Barrón LT, Andlauer TFM, von Scheidt M; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Budde M, Heilbronner U, Papiol S, Teumer A, Homuth G, Völzke H, Dörr M, Falkai P, Schulze TG, Gagneur J, Iorio F, Müller-Myhsok B, Schunkert H, Ziller MJ. Trastulla L, et al. Nat Commun. 2024 Jul 1;15(1):5534. doi: 10.1038/s41467-024-49338-2. Nat Commun. 2024. PMID: 38951512 Free PMC article.
269 results