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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 0 |
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5 results
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Page 1
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.
Nature. 2022 Apr;604(7905):310-315. doi: 10.1038/s41586-022-04558-8. Epub 2022 Apr 6.
Nature. 2022.
PMID: 35388217
Free PMC article.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Foreman J, Perrett D, Mazaika E, Hunt SE, Ware JS, Firth HV.
Foreman J, et al.
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:151-176. doi: 10.1146/annurev-genom-102822-100509. Epub 2023 Jun 7.
Annu Rev Genomics Hum Genet. 2023.
PMID: 37285546
Free PMC article.
Review.
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Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC, Gunning AC, Owens MM, Ellard S, Wright CF.
Caswell RC, et al.
Genome Med. 2022 Jul 22;14(1):77. doi: 10.1186/s13073-022-01082-2.
Genome Med. 2022.
PMID: 35869530
Free PMC article.
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Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.
Gunning AC, Wright CF.
Gunning AC, et al.
Genome Med. 2023 Dec 12;15(1):110. doi: 10.1186/s13073-023-01264-6.
Genome Med. 2023.
PMID: 38087376
Free PMC article.
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR, Karczewski KJ, Morales J, Gallone G, Balasubramanian M, Banka S, Gompertz L, Kerr B, Kirby A, Lynch SA, Morton JEV, Pinz H, Sansbury FH, Stewart H, Zuccarelli BD; Genomics England Research Consortium; Cook SA, Taylor JC, Juusola J, Retterer K, Firth HV, Hurles ME, Lara-Pezzi E, Barton PJR, Whiffin N.
Wright CF, et al.
Am J Hum Genet. 2021 Jun 3;108(6):1083-1094. doi: 10.1016/j.ajhg.2021.04.025. Epub 2021 May 21.
Am J Hum Genet. 2021.
PMID: 34022131
Free PMC article.
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