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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 1 |
2022 | 2 |
2023 | 0 |
Search Results
4 results
Results by year
Page 1
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
J Mol Diagn. 2022 Dec;24(12):1232-1239. doi: 10.1016/j.jmoldx.2022.09.005. Epub 2022 Oct 1.
J Mol Diagn. 2022.
PMID: 36191840
Free article.
Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
Sallah SR, Ellingford JM, Sergouniotis PI, Ramsden SC, Lench N, Lovell SC, Black GC.
Sallah SR, et al.
J Med Genet. 2022 Apr;59(4):385-392. doi: 10.1136/jmedgenet-2020-107404. Epub 2021 Mar 25.
J Med Genet. 2022.
PMID: 33766936
Free PMC article.
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Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ, Sallah SR, Ellingford JM, Lovell SC, Sergouniotis PI.
Green DJ, et al. Among authors: sallah sr.
Genes (Basel). 2020 Feb 9;11(2):179. doi: 10.3390/genes11020179.
Genes (Basel). 2020.
PMID: 32050448
Free PMC article.
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Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.
Sallah SR, Sergouniotis PI, Barton S, Ramsden S, Taylor RL, Safadi A, Kabir M, Ellingford JM, Lench N, Lovell SC, Black GCM.
Sallah SR, et al.
Eur J Hum Genet. 2020 Sep;28(9):1274-1282. doi: 10.1038/s41431-020-0623-y. Epub 2020 Apr 20.
Eur J Hum Genet. 2020.
PMID: 32313206
Free PMC article.
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