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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 3 |
2022 | 3 |
2024 | 1 |
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6 results
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Page 1
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3.
Genome Med. 2022.
PMID: 35850704
Free PMC article.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL; Genomics England Research Consortium, Splicing and Disease Working Group; Whiffin N, Baralle D, Lord J.
Blakes AJM, et al.
Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x.
Genome Med. 2022.
PMID: 35883178
Free PMC article.
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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Wieder N, D'Souza EN, Martin-Geary AC, Lassen FH, Talbot-Martin J, Fernandes M, Chothani SP, Rackham OJL, Schafer S, Aspden JL, MacArthur DG, Davies RW, Whiffin N.
Wieder N, et al.
Genome Biol. 2024 Apr 29;25(1):111. doi: 10.1186/s13059-024-03248-0.
Genome Biol. 2024.
PMID: 38685090
Free PMC article.
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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK).
Garrett A, et al.
Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906457
Free PMC article.
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Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk.
Cubuk C, et al.
Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z. Epub 2021 Jul 6.
Genet Med. 2021.
PMID: 34230640
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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