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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1952 1
1954 1
1975 1
1982 2
1987 1
1989 1
1990 1
1991 1
1992 3
1993 1
1994 2
1995 4
1996 4
1997 3
1998 10
1999 3
2000 6
2001 8
2002 6
2003 9
2004 9
2005 9
2006 12
2007 18
2008 17
2009 15
2010 24
2011 20
2012 23
2013 25
2014 28
2015 31
2016 23
2017 25
2018 22
2019 23
2020 28
2021 25
2022 31
2023 30
2024 20
2025 17

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489 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
A Human Skeletal Muscle Atlas Identifies the Trajectories of Stem and Progenitor Cells across Development and from Human Pluripotent Stem Cells.
Xi H, Langerman J, Sabri S, Chien P, Young CS, Younesi S, Hicks M, Gonzalez K, Fujiwara W, Marzi J, Liebscher S, Spencer M, Van Handel B, Evseenko D, Schenke-Layland K, Plath K, Pyle AD. Xi H, et al. Among authors: pyle ad. Cell Stem Cell. 2020 Jul 2;27(1):158-176.e10. doi: 10.1016/j.stem.2020.04.017. Epub 2020 May 11. Cell Stem Cell. 2020. PMID: 32396864 Free PMC article.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Among authors: pyle a. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
The emergence of the stem cell niche.
Hicks MR, Pyle AD. Hicks MR, et al. Among authors: pyle ad. Trends Cell Biol. 2023 Feb;33(2):112-123. doi: 10.1016/j.tcb.2022.07.003. Epub 2022 Aug 4. Trends Cell Biol. 2023. PMID: 35934562 Free PMC article. Review.
The molecular mechanism of RIG-I activation and signaling.
Thoresen D, Wang W, Galls D, Guo R, Xu L, Pyle AM. Thoresen D, et al. Among authors: pyle am. Immunol Rev. 2021 Nov;304(1):154-168. doi: 10.1111/imr.13022. Epub 2021 Sep 12. Immunol Rev. 2021. PMID: 34514601 Free PMC article. Review.
Defining mitochondrial protein functions through deep multiomic profiling.
Rensvold JW, Shishkova E, Sverchkov Y, Miller IJ, Cetinkaya A, Pyle A, Manicki M, Brademan DR, Alanay Y, Raiman J, Jochem A, Hutchins PD, Peters SR, Linke V, Overmyer KA, Salome AZ, Hebert AS, Vincent CE, Kwiecien NW, Rush MJP, Westphall MS, Craven M, Akarsu NA, Taylor RW, Coon JJ, Pagliarini DJ. Rensvold JW, et al. Among authors: pyle a. Nature. 2022 Jun;606(7913):382-388. doi: 10.1038/s41586-022-04765-3. Epub 2022 May 25. Nature. 2022. PMID: 35614220 Free PMC article.
Single-cell analysis and functional characterization uncover the stem cell hierarchies and developmental origins of rhabdomyosarcoma.
Wei Y, Qin Q, Yan C, Hayes MN, Garcia SP, Xi H, Do D, Jin AH, Eng TC, McCarthy KM, Adhikari A, Onozato ML, Spentzos D, Neilsen GP, Iafrate AJ, Wexler LH, Pyle AD, Suvà ML, Dela Cruz F, Pinello L, Langenau DM. Wei Y, et al. Among authors: pyle ad. Nat Cancer. 2022 Aug;3(8):961-975. doi: 10.1038/s43018-022-00414-w. Epub 2022 Aug 18. Nat Cancer. 2022. PMID: 35982179 Free PMC article.
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.
Hyslop LA, Blakely EL, Aushev M, Marley J, Takeda Y, Pyle A, Moody E, Feeney C, Dutton J, Shaw C, Smith SJ, Craig K, Alston CL, Lister L, Endacott K, Byerley S, McDermott H, Wilson K, Botham L, Matthew B, Prathalingam N, Prior M, Murdoch A, Turnbull DM, Hudson G, Choudhary M, Taylor RW, Pillai RN, Stewart JA, McFarland R, Herbert M. Hyslop LA, et al. Among authors: pyle a. N Engl J Med. 2025 Jul 31;393(5):438-449. doi: 10.1056/NEJMoa2415539. Epub 2025 Jul 16. N Engl J Med. 2025. PMID: 40673696 Free PMC article.
489 results