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419 results

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Page 1
Genetic Sex Validation for Sample Tracking in Clinical Testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E, Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. Among authors: muzny dm. Res Sq [Preprint]. 2023 Sep 11:rs.3.rs-3304685. doi: 10.21203/rs.3.rs-3304685/v1. Res Sq. 2023. Update in: BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w PMID: 37790445 Free PMC article. Updated. Preprint.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
Integrative pathway enrichment analysis of multivariate omics data.
Paczkowska M, Barenboim J, Sintupisut N, Fox NS, Zhu H, Abd-Rabbo D, Mee MW, Boutros PC; PCAWG Drivers and Functional Interpretation Working Group; Reimand J; PCAWG Consortium. Paczkowska M, et al. Nat Commun. 2020 Feb 5;11(1):735. doi: 10.1038/s41467-019-13983-9. Nat Commun. 2020. PMID: 32024846 Free PMC article.
Complete Genomic Characterization of Global Pathogens, Respiratory Syncytial Virus (RSV), and Human Norovirus (HuNoV) Using Probe-based Capture Enrichment.
Bhamidipati SV, Surathu A, Chao H, Agustinho DP, Xiang Q, Kottapalli K, Santhanam A, Momin Z, Walker K, Menon VK, Weissenberger G, Emerick N, Mahjabeen F, Meng Q, Hu J, Sucgang R, Henke D, Sedlazeck FJ, Khan Z, Metcalf GA, Avadhanula V, Piedra PA, Ramani S, Atmar RL, Estes MK, Petrosino JF, Gibbs RA, Muzny DM, Cregeen SJ, Doddapaneni H. Bhamidipati SV, et al. Among authors: muzny dm. bioRxiv [Preprint]. 2024 Sep 16:2024.09.16.613242. doi: 10.1101/2024.09.16.613242. bioRxiv. 2024. PMID: 39345650 Free PMC article. Preprint.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.
Author Correction: Pan-cancer analysis of whole genomes.
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Nature. 2023 Feb;614(7948):E39. doi: 10.1038/s41586-022-05598-w. Nature. 2023. PMID: 36697834 Free PMC article. No abstract available.
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Grochowski CM, et al. Among authors: muzny dm. bioRxiv [Preprint]. 2023 Oct 3:2023.10.02.560172. doi: 10.1101/2023.10.02.560172. bioRxiv. 2023. PMID: 37873367 Free PMC article. Preprint.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: muzny dm. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Coban-Akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Bozkurt-Yozgatli T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR. Coban-Akdemir Z, et al. Among authors: muzny dm. Genet Med Open. 2024 Feb 14;2:101830. doi: 10.1016/j.gimo.2024.101830. eCollection 2024. Genet Med Open. 2024. PMID: 39669594 Free PMC article.
Respiratory Syncytial Virus Disease Burden and Nirsevimab Effectiveness in Young Children From 2023-2024.
Moline HL, Toepfer AP, Tannis A, Weinberg GA, Staat MA, Halasa NB, Boom JA, Klein EJ, Williams JV, Schuster JE, Goldstein L, McKeever ER, Kalman C, Paden C, Atherton L, Aggarwal M, Roychoudhury P, Piedra PA, Sahni LC, Stewart LS, Selvarangan R, Michaels MG, Schlaudecker EP, Szilagyi PG, Englund JA, Clopper BR, Thornburg NJ, Derado G, McMorrow ML, Dawood FS; New Vaccine Surveillance Network Collaborators. Moline HL, et al. JAMA Pediatr. 2024 Dec 9:e245572. doi: 10.1001/jamapediatrics.2024.5572. Online ahead of print. JAMA Pediatr. 2024. PMID: 39652359
419 results