Nelson SF - Search Results

1

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: nelson sf. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.

2

Evidence for sex-specific risk alleles in autism spectrum disorder.

Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Stone JL, et al. Among authors: nelson sf. Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5. Am J Hum Genet. 2004. PMID: 15467983 Free PMC article.

3

Distinct transcription profiles of primary and secondary glioblastoma subgroups.

Tso CL, Freije WA, Day A, Chen Z, Merriman B, Perlina A, Lee Y, Dia EQ, Yoshimoto K, Mischel PS, Liau LM, Cloughesy TF, Nelson SF. Tso CL, et al. Among authors: nelson sf. Cancer Res. 2006 Jan 1;66(1):159-67. doi: 10.1158/0008-5472.CAN-05-0077. Cancer Res. 2006. PMID: 16397228

4

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Lacombe A, et al. Among authors: nelson sf. Am J Hum Genet. 2006 Jul;79(1):113-9. doi: 10.1086/505406. Epub 2006 May 26. Am J Hum Genet. 2006. PMID: 16773570 Free PMC article.

5

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

6

A new episodic ataxia syndrome with linkage to chromosome 19q13.

Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. Kerber KA, et al. Among authors: nelson sf. Arch Neurol. 2007 May;64(5):749-52. doi: 10.1001/archneur.64.5.749. Arch Neurol. 2007. PMID: 17502476

7

Phenotypic and genetic analysis of a large family with migraine-associated vertigo.

Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. Lee H, et al. Among authors: nelson sf. Headache. 2008 Nov-Dec;48(10):1460-7. doi: 10.1111/j.1526-4610.2007.01002.x. Epub 2007 Dec 11. Headache. 2008. PMID: 18081823 Free PMC article.

8

Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning.

Cokus SJ, Feng S, Zhang X, Chen Z, Merriman B, Haudenschild CD, Pradhan S, Nelson SF, Pellegrini M, Jacobsen SE. Cokus SJ, et al. Among authors: nelson sf. Nature. 2008 Mar 13;452(7184):215-9. doi: 10.1038/nature06745. Epub 2008 Feb 17. Nature. 2008. PMID: 18278030 Free PMC article.

9

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.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

384 results

Search Page