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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 2 |
2022 | 1 |
2024 | 0 |
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4 results
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Page 1
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Hum Mutat. 2022 Nov;43(11):1531-1544. doi: 10.1002/humu.24465. Epub 2022 Sep 18.
Hum Mutat. 2022.
PMID: 36086952
Free PMC article.
Review.
Multicolor Whole-Genome Mapping in Nanochannels for Genetic Analysis.
Uppuluri L, Jadhav T, Wang Y, Xiao M.
Uppuluri L, et al.
Anal Chem. 2021 Jul 20;93(28):9808-9816. doi: 10.1021/acs.analchem.1c01373. Epub 2021 Jul 7.
Anal Chem. 2021.
PMID: 34232611
Free PMC article.
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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Rajagopalan R, Gilbert MA, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB.
Rajagopalan R, et al.
Genet Med. 2021 Feb;23(2):323-330. doi: 10.1038/s41436-020-00989-8. Epub 2020 Oct 20.
Genet Med. 2021.
PMID: 33077891
Free PMC article.
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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
Rajagopalan R, Murrell JR, Luo M, Conlin LK.
Rajagopalan R, et al.
Genome Med. 2020 Jan 30;12(1):14. doi: 10.1186/s13073-020-0712-0.
Genome Med. 2020.
PMID: 32000839
Free PMC article.
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