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

Year Number of Results
2002 6
2003 6
2004 11
2005 17
2006 18
2007 18
2008 36
2009 22
2010 35
2011 52
2012 60
2013 63
2014 107
2015 76
2016 77
2017 112
2018 105
2019 136
2020 104
2021 86
2022 96
2023 74
2024 39

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1,226 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.
The Interdisciplinary Diagnosis of Rare Diseases.
Rillig F, Grüters A, Schramm C, Krude H. Rillig F, et al. Dtsch Arztebl Int. 2022 Jul 11;119(27-28):469-475. doi: 10.3238/arztebl.m2022.0219. Dtsch Arztebl Int. 2022. PMID: 35635437 Free PMC article.
Biomarkers in Rare Diseases.
Bax BE. Bax BE. Int J Mol Sci. 2021 Jan 12;22(2):673. doi: 10.3390/ijms22020673. Int J Mol Sci. 2021. PMID: 33445477 Free PMC article.
Exome/Genome Sequencing in Undiagnosed Syndromes.
Sullivan JA, Schoch K, Spillmann RC, Shashi V. Sullivan JA, et al. Annu Rev Med. 2023 Jan 27;74:489-502. doi: 10.1146/annurev-med-042921-110721. Annu Rev Med. 2023. PMID: 36706750 Free PMC article. Review.
Diagnosis support systems for rare diseases: a scoping review.
Faviez C, Chen X, Garcelon N, Neuraz A, Knebelmann B, Salomon R, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. Orphanet J Rare Dis. 2020 Apr 16;15(1):94. doi: 10.1186/s13023-020-01374-z. Orphanet J Rare Dis. 2020. PMID: 32299466 Free PMC article. Review.
Genetic Diagnosis of Rare Diseases: Past and Present.
Ramos-Fuentes F, González-Meneses A, Ars E, Hernández-Jaras J. Ramos-Fuentes F, et al. Adv Ther. 2020 May;37(Suppl 2):29-37. doi: 10.1007/s12325-019-01176-1. Epub 2020 Mar 31. Adv Ther. 2020. PMID: 32236876 Review.
[Rare diseases].
Reichmann H. Reichmann H. Fortschr Neurol Psychiatr. 2023 Apr;91(4):126-127. doi: 10.1055/a-2022-4203. Epub 2023 Apr 13. Fortschr Neurol Psychiatr. 2023. PMID: 37055012 German. No abstract available.
1,226 results