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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH. Shanks ME, et al. Among authors: packham er. Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968130 Free PMC article.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium; Valentine R, Packham E, Evans J, Seller A, Ragoussis J. Németh AH, et al. Among authors: packham e. Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11. Brain. 2013. PMID: 24030952 Free PMC article.
Atypical choroideremia presenting with early-onset macular atrophy.
Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM. Kontos G, et al. Among authors: packham e. Acta Ophthalmol. 2019 Sep;97(6):633-636. doi: 10.1111/aos.14025. Epub 2019 Jan 28. Acta Ophthalmol. 2019. PMID: 30690895 Free article.
Mutation in myosin heavy chain 6 causes atrial septal defect.
Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD. Ching YH, et al. Among authors: packham ea. Nat Genet. 2005 Apr;37(4):423-8. doi: 10.1038/ng1526. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735645
Interaction makes the heart grow stronger.
Packham EA, David Brook J. Packham EA, et al. Trends Mol Med. 2003 Oct;9(10):407-9. doi: 10.1016/j.molmed.2003.08.009. Trends Mol Med. 2003. PMID: 14557051 Review.
T-box genes in human disorders.
Packham EA, Brook JD. Packham EA, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R37-44. doi: 10.1093/hmg/ddg077. Hum Mol Genet. 2003. PMID: 12668595 Review.
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