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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11.
Genet Med. 2019.
PMID: 30531895
Free PMC article.
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.
Harrison V, Connell L, Hayesmoore J, McParland J, Pike MG, Blair E.
Harrison V, et al.
Am J Med Genet A. 2011 Nov;155A(11):2826-31. doi: 10.1002/ajmg.a.34255. Epub 2011 Sep 30.
Am J Med Genet A. 2011.
PMID: 21964664
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Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Harper AR, Bowman M, Hayesmoore JBG, Sage H, Salatino S, Blair E, Campbell C, Currie B, Goel A, McGuire K, Ormondroyd E, Sergeant K, Waring A, Woodley J, Kramer CM, Neubauer S, Farrall M, Watkins H, Thomson KL; HCMR Investigators.
Harper AR, et al. Among authors: hayesmoore jbg.
Circ Genom Precis Med. 2020 Jun;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783. Epub 2020 Mar 12.
Circ Genom Precis Med. 2020.
PMID: 32163302
Free PMC article.
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore JB, Bhuiyan ZA, Coviello DA, du Sart D, Edwards M, Iascone M, Morris-Rosendahl DJ, Sheils K, van Slegtenhorst M, Thomson KL.
Hayesmoore JB, et al.
Eur J Hum Genet. 2023 Sep;31(9):1003-1009. doi: 10.1038/s41431-023-01421-w. Epub 2023 Jul 13.
Eur J Hum Genet. 2023.
PMID: 37443332
Free PMC article.
Review.
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DISC1 mRNA expression is not influenced by common Cis-acting regulatory polymorphisms or imprinting.
Hayesmoore JB, Bray NJ, Owen MJ, O'Donovan MC.
Hayesmoore JB, et al.
Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1065-9. doi: 10.1002/ajmg.b.30715.
Am J Med Genet B Neuropsychiatr Genet. 2008.
PMID: 18270998
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The effect of age and the H1c MAPT haplotype on MAPT expression in human brain.
Hayesmoore JB, Bray NJ, Cross WC, Owen MJ, O'Donovan MC, Morris HR.
Hayesmoore JB, et al.
Neurobiol Aging. 2009 Oct;30(10):1652-6. doi: 10.1016/j.neurobiolaging.2007.12.017. Epub 2008 Feb 13.
Neurobiol Aging. 2009.
PMID: 18276036
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A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.
Hayesmoore JBG, Bowman M, Shannon N, Blair E, Watkins H, Thomson KL.
Hayesmoore JBG, et al.
Circ Genom Precis Med. 2024 Feb;17(1):e004134. doi: 10.1161/CIRCGEN.123.004134. Epub 2024 Jan 23.
Circ Genom Precis Med. 2024.
PMID: 38258577
No abstract available.
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