Davies KE - Search Results

1

Personal journeys to and in human genetics and dysmorphology.

Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: davies ke. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159

2

Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy.

Isaacs AM, Jeans A, Oliver PL, Vizor L, Brown SD, Hunter AJ, Davies KE. Isaacs AM, et al. Among authors: davies ke. Mol Cell Neurosci. 2002 Sep;21(1):114-25. doi: 10.1006/mcne.2002.1158. Mol Cell Neurosci. 2002. PMID: 12359155

3

The era of genomic medicine.

Davies K. Davies K. Clin Med (Lond). 2013 Dec;13(6):594-601. doi: 10.7861/clinmedicine.13-6-594. Clin Med (Lond). 2013. PMID: 24298109 Free PMC article. Review.

4

The Long Journey from Diagnosis to Therapy.

Davies KE. Davies KE. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:1-13. doi: 10.1146/annurev-genom-112019-083518. Epub 2020 Mar 2. Annu Rev Genomics Hum Genet. 2020. PMID: 32119789

5

The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy.

Guiraud S, Edwards B, Babbs A, Squire SE, Berg A, Moir L, Wood MJ, Davies KE. Guiraud S, et al. Among authors: davies ke. Hum Mol Genet. 2019 Jul 1;28(13):2189-2200. doi: 10.1093/hmg/ddz049. Hum Mol Genet. 2019. PMID: 30990876 Free PMC article.

6

A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse.

Isaacs AM, Oliver PL, Jones EL, Jeans A, Potter A, Hovik BH, Nolan PM, Vizor L, Glenister P, Simon AK, Gray IC, Spurr NK, Brown SD, Hunter AJ, Davies KE. Isaacs AM, et al. Among authors: davies ke. J Neurosci. 2003 Mar 1;23(5):1631-7. doi: 10.1523/JNEUROSCI.23-05-01631.2003. J Neurosci. 2003. PMID: 12629167 Free PMC article.

7

Regenerative biomarkers for Duchenne muscular dystrophy.

Guiraud S, Davies KE. Guiraud S, et al. Among authors: davies ke. Neural Regen Res. 2019 Aug;14(8):1317-1320. doi: 10.4103/1673-5374.253534. Neural Regen Res. 2019. PMID: 30964048 Free PMC article. Review.

8

High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders.

Vernes SC, Spiteri E, Nicod J, Groszer M, Taylor JM, Davies KE, Geschwind DH, Fisher SE. Vernes SC, et al. Among authors: davies ke. Am J Hum Genet. 2007 Dec;81(6):1232-50. doi: 10.1086/522238. Epub 2007 Oct 31. Am J Hum Genet. 2007. PMID: 17999362 Free PMC article.

9

Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD.

Guiraud S, Edwards B, Squire SE, Moir L, Berg A, Babbs A, Ramadan N, Wood MJ, Davies KE. Guiraud S, et al. Among authors: davies ke. Hum Mol Genet. 2019 Jan 15;28(2):307-319. doi: 10.1093/hmg/ddy353. Hum Mol Genet. 2019. PMID: 30304405 Free PMC article.

10

Function and genetics of dystrophin and dystrophin-related proteins in muscle.

Blake DJ, Weir A, Newey SE, Davies KE. Blake DJ, et al. Among authors: davies ke. Physiol Rev. 2002 Apr;82(2):291-329. doi: 10.1152/physrev.00028.2001. Physiol Rev. 2002. PMID: 11917091 Free article. Review.

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