Funari VA - Search Results

1

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: funari va. 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.

2

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: funari va. 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.

3

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. Funari VA, et al. Among authors: funari tl. Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015. Am J Hum Genet. 2010. PMID: 20869035 Free PMC article.

4

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. BMC Genomics. 2007 Jun 12;8:165. doi: 10.1186/1471-2164-8-165. BMC Genomics. 2007. PMID: 17565682 Free PMC article.

5

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: funari va, funari tl. 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.

6

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. Nemec SF, et al. Among authors: funari va. Pediatr Radiol. 2012 Jan;42(1):15-23. doi: 10.1007/s00247-011-2229-6. Epub 2011 Aug 24. Pediatr Radiol. 2012. PMID: 21863289 Review.

7

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH. Tompson SW, et al. Among authors: funari va, funari t. Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246659 Free PMC article.

8

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: funari va. BMC Genomics. 2009 Dec 31;10:646. doi: 10.1186/1471-2164-10-646. BMC Genomics. 2009. PMID: 20043857 Free PMC article.

9

Disease gene characterization through large-scale co-expression analysis.

Day A, Dong J, Funari VA, Harry B, Strom SP, Cohn DH, Nelson SF. Day A, et al. Among authors: funari va. PLoS One. 2009 Dec 31;4(12):e8491. doi: 10.1371/journal.pone.0008491. PLoS One. 2009. PMID: 20046828 Free PMC article.

10

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. 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.

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