Thomas NS - Search Results

1

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN. Krawczak M, et al. Among authors: thomas ns. Hum Mutat. 2007 Feb;28(2):150-8. doi: 10.1002/humu.20400. Hum Mutat. 2007. PMID: 17001642

2

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

Wolf A, Caliebe A, Thomas NS, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN. Wolf A, et al. Among authors: thomas ns. Hum Mutat. 2011 Oct;32(10):1137-43. doi: 10.1002/humu.21547. Epub 2011 Sep 8. Hum Mutat. 2011. PMID: 21681852

3

Human Gene Mutation Database (HGMD): 2003 update.

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Stenson PD, et al. Among authors: thomas ns. Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212. Hum Mutat. 2003. PMID: 12754702

4

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: thomas ns. Hum Genomics. 2011 May;5(4):241-64. doi: 10.1186/1479-7364-5-4-241. Hum Genomics. 2011. PMID: 21712188 Free PMC article.

5

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN. Upadhyaya M, et al. Among authors: thomas ns. Hum Mutat. 2004 Feb;23(2):134-146. doi: 10.1002/humu.10305. Hum Mutat. 2004. PMID: 14722917

6

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Persichetti E, et al. Among authors: thomas ns. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764

7

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.

Upadhyaya M, Spurlock G, Thomas L, Thomas NS, Richards M, Mautner VF, Cooper DN, Guha A, Yan J. Upadhyaya M, et al. Among authors: thomas l, thomas ns. Hum Mutat. 2012 Apr;33(4):763-76. doi: 10.1002/humu.22044. Epub 2012 Mar 5. Hum Mutat. 2012. PMID: 22331697

8

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Thomas L, Spurlock G, Eudall C, Thomas NS, Mort M, Hamby SE, Chuzhanova N, Brems H, Legius E, Cooper DN, Upadhyaya M. Thomas L, et al. Among authors: thomas ns. Eur J Hum Genet. 2012 Apr;20(4):411-9. doi: 10.1038/ejhg.2011.207. Epub 2011 Nov 23. Eur J Hum Genet. 2012. PMID: 22108604 Free PMC article.

9

The Human Gene Mutation Database: 2008 update.

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. Stenson PD, et al. Among authors: thomas ns. Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13. Genome Med. 2009. PMID: 19348700 Free PMC article.

10

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG. Turner C, et al. Among authors: thomas ns. Hum Genet. 2003 Mar;112(3):303-9. doi: 10.1007/s00439-002-0892-2. Epub 2003 Jan 25. Hum Genet. 2003. PMID: 12545275

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