Cooper DN - Search Results

1

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hamby SE, Reviriego P, Cooper DN, Upadhyaya M, Chuzhanova N. Hamby SE, et al. Among authors: cooper dn. Hum Genomics. 2013 Aug 15;7(1):18. doi: 10.1186/1479-7364-7-18. Hum Genomics. 2013. PMID: 23947441 Free PMC article.

2

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease.

Hamby SE, Thomas NS, Cooper DN, Chuzhanova N. Hamby SE, et al. Among authors: cooper dn. Hum Genomics. 2011 May;5(4):241-64. doi: 10.1186/1479-7364-5-4-241. Hum Genomics. 2011. PMID: 21712188 Free PMC article.

3

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S, Thomas N, Cooper DN, Upadhyaya M. Laycock-van Spyk S, et al. Among authors: cooper dn. Hum Genomics. 2011 Oct;5(6):623-90. doi: 10.1186/1479-7364-5-6-623. Hum Genomics. 2011. PMID: 22155606 Free PMC article. Review.

4

An emerging role for microRNAs in NF1 tumorigenesis.

Sedani A, Cooper DN, Upadhyaya M. Sedani A, et al. Among authors: cooper dn. Hum Genomics. 2012 Nov 17;6(1):23. doi: 10.1186/1479-7364-6-23. Hum Genomics. 2012. PMID: 23158014 Free PMC article. Review.

5

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M. Alkindy A, et al. Among authors: cooper dn. Hum Genomics. 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. Hum Genomics. 2012. PMID: 23244495 Free PMC article.

6

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.

Mayes MB, Morgan T, Winston J, Buxton DS, Kamat MA, Smith D, Williams M, Martin RL, Kleinjan DA, Cooper DN, Upadhyaya M, Chuzhanova N. Mayes MB, et al. Among authors: cooper dn. Hum Genomics. 2015 Oct 7;9:25. doi: 10.1186/s40246-015-0047-x. Hum Genomics. 2015. PMID: 26446085 Free PMC article.

7

Detection of NF1 mutations utilizing the protein truncation test (PTT).

Upadhyaya M, Osborn M, Cooper DN. Upadhyaya M, et al. Among authors: cooper dn. Methods Mol Biol. 2003;217:315-27. doi: 10.1385/1-59259-330-5:315. Methods Mol Biol. 2003. PMID: 12491944 No abstract available.

8

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD. Cooper DN, et al. Hum Mutat. 2010 Jun;31(6):631-55. doi: 10.1002/humu.21260. Hum Mutat. 2010. PMID: 20506564 Review.

9

Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

Millar DS, Horan M, Chuzhanova NA, Cooper DN. Millar DS, et al. Among authors: cooper dn. Hum Genomics. 2010 Jun;4(5):289-301. doi: 10.1186/1479-7364-4-5-289. Hum Genomics. 2010. PMID: 20650818 Free PMC article.

10

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.

Millar DS, Tysoe C, Lazarou LP, Pilz DT, Mohammed S, Anderson K, Chuzhanova N, Cooper DN, Butler R. Millar DS, et al. Among authors: cooper dn. Hum Genomics. 2010 Aug;4(6):384-93. doi: 10.1186/1479-7364-4-6-384. Hum Genomics. 2010. PMID: 20846927 Free PMC article.

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