Nelson SF - Search Results

1

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Smits P, et al. Among authors: nelson sf. N Engl J Med. 2010 Jan 21;362(3):206-16. doi: 10.1056/NEJMoa0900158. N Engl J Med. 2010. PMID: 20089971 Free PMC article.

2

High density SNP association study of a major autism linkage region on chromosome 17.

Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF. Stone JL, et al. Among authors: nelson sf. Hum Mol Genet. 2007 Mar 15;16(6):704-15. doi: 10.1093/hmg/ddm015. Epub 2007 Mar 21. Hum Mol Genet. 2007. PMID: 17376794

3

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression.

Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. Funari VA, et al. Among authors: nelson sf. BMC Genomics. 2007 Jun 12;8:165. doi: 10.1186/1471-2164-8-165. BMC Genomics. 2007. PMID: 17565682 Free PMC article.

4

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Rock MJ, et al. Among authors: nelson sf. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587396 Free PMC article.

5

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. Tompson SW, et al. Among authors: nelson sf. Am J Hum Genet. 2009 Jan;84(1):72-9. doi: 10.1016/j.ajhg.2008.12.001. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110214 Free PMC article.

6

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Among authors: nelson sf. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.

7

Local alignment of two-base encoded DNA sequence.

Homer N, Merriman B, Nelson SF. Homer N, et al. Among authors: nelson sf. BMC Bioinformatics. 2009 Jun 9;10:175. doi: 10.1186/1471-2105-10-175. BMC Bioinformatics. 2009. PMID: 19508732 Free PMC article.

8

BFAST: an alignment tool for large scale genome resequencing.

Homer N, Merriman B, Nelson SF. Homer N, et al. Among authors: nelson sf. PLoS One. 2009 Nov 11;4(11):e7767. doi: 10.1371/journal.pone.0007767. PLoS One. 2009. PMID: 19907642 Free PMC article.

9

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing.

Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. Lee H, et al. Among authors: nelson sf. BMC Genomics. 2009 Dec 31;10:646. doi: 10.1186/1471-2164-10-646. BMC Genomics. 2009. PMID: 20043857 Free PMC article.

10

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. Clark MJ, et al. Among authors: nelson sf. PLoS Genet. 2010 Jan 29;6(1):e1000832. doi: 10.1371/journal.pgen.1000832. PLoS Genet. 2010. PMID: 20126413 Free PMC article.

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