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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 1 |
2020 | 2 |
2021 | 3 |
2022 | 2 |
2024 | 0 |
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7 results
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Page 1
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet. 2022 Dec;59(12):1151-1164. doi: 10.1136/jmedgenet-2022-108476. Epub 2022 Jun 28.
J Med Genet. 2022.
PMID: 35764379
Free PMC article.
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1.
Szymanska K, Boldt K, Logan CV, Adams M, Robinson PA, Ueffing M, Zeqiraj E, Wheway G, Johnson CA.
Szymanska K, et al.
Elife. 2022 Feb 16;11:e57593. doi: 10.7554/eLife.57593.
Elife. 2022.
PMID: 35170427
Free PMC article.
Item in Clipboard
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G, Thomas NS, Carroll M, Coles J, Doherty R; Genomics England Research Consortium; Goggin P, Green B, Harris A, Hunt D, Jackson CL, Lord J, Mennella V, Thompson J, Walker WT, Lucas JS.
Wheway G, et al.
BMC Med Genomics. 2021 Sep 23;14(1):234. doi: 10.1186/s12920-021-01084-w.
BMC Med Genomics. 2021.
PMID: 34556108
Free PMC article.
Item in Clipboard
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D.
Macken WL, et al.
Genome Med. 2021 Feb 25;13(1):34. doi: 10.1186/s13073-021-00850-w.
Genome Med. 2021.
PMID: 33632302
Free PMC article.
Item in Clipboard
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Nazlamova L, Thomas NS, Cheung MK, Legebeke J, Lord J, Pengelly RJ, Tapper WJ, Wheway G.
Nazlamova L, et al.
Hum Genet. 2021 Apr;140(4):593-607. doi: 10.1007/s00439-020-02228-1. Epub 2020 Oct 23.
Hum Genet. 2021.
PMID: 33095315
Free PMC article.
Item in Clipboard
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G, Douglas A, Baralle D, Guillot E.
Wheway G, et al.
Exp Eye Res. 2020 Mar;192:107950. doi: 10.1016/j.exer.2020.107950. Epub 2020 Jan 31.
Exp Eye Res. 2020.
PMID: 32014492
Free PMC article.
Review.
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Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G, Lord J, Baralle D.
Wheway G, et al.
Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194433. doi: 10.1016/j.bbagrm.2019.194433. Epub 2019 Nov 4.
Biochim Biophys Acta Gene Regul Mech. 2019.
PMID: 31698098
Review.
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