Publications

Li P, Grigorenko E, Funari V, Enright E, Zhang H, Kim HL. Evaluation of a high-throughput, microfluidics platform for performing TaqMan™ qPCR using formalin-fixed paraffin-embedded tumors. Bioanalysis. June 2013;5(13):1623–1633.

Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, BafnaV, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nature Genetics. June 2012;44(8):941–945. doi: 10.1038/ng.2329.

Iliev ID, Funari VA, Taylor KD, Nguyen Q, Reyes CN, Strom SP, Brown J, Becker CA, Fleshner PR, Dubinsky M, Rotter JI, Wang HL, McGovern DPB, Brown GD, Underhill DM. Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. Science. June 2012;336(6086):1314–1317.

Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funar T, Funari VA, Nevarez L, Krakow D, Cohn DH. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. American Journal of Medical Genetics. Feb. 2012;158A(2):309–314.  

Ljubimova JY, Gangalum PR, Portilla-Arias J, Patil R, Konda B, Paff M, Markman JL, Inoue S, Espinoza A, Chesnokova A, Funari V, Kleinman MT, Holler E, Black KL. Molecular changes in rat brain due to air nano pollution. Cancer Nanotechnology & Nano Medical Sciences. In: NSTI Nanotech. Vol 3. 2012: 261–264.

Iliev ID, Funari VA, Taylor KD, Nguyen Q, Reyes CN, Strom SP, Brown J, Becker CA, Fleshner PR, Dubinsky M, Rotter JI, Wang HL, McGovern DPB, Brown GD, Underhill DM. Receptor Dectin-1 influence colitis interactions between commensal fungi and the C-type lectin. Science. Jan. 2012;336(799):1314.

Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatric Radiology. Aug. 2011;42(1):15–23.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. The American Journal of Human Genetics. Oct. 2010;87(4):532–537.  

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. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. New England Journal of Medicine. Jan. 2010;362(3):206–216.  

Funari VA, Voevodski K, Leyfer D, Yerkes L, Cramer D, Tolan DR. Quantitative gene expression profiles in real time from expressed sequence tag databases. Gene Expression. Jan. 2010;14(6):321–36.

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. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. The American Journal of Human Genetics. May 2009;84(4):542–549.  

Lee H, O’Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics. Jan. 2009;10:646.

Day A, Dong J, Funari VA, Harry B, Strom SP, Cohn DH, Nelson SF. Disease gene characterization through large-scale co-expression analysis. PLoS ONE. Jan. 2009;4(12):e8491.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. The American Journal of Human Genetics. Dec. 2008;84(1):72–79.

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. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nature Genetics. July 2008;40(8):999–1003.

Funari VA, Crandall JE, Tolan DR. Fructose metabolism in the cerebellum.The Cerebellum. Feb. 2007;6(2):130–140.

Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics. Feb. 2007;8:165.

Funari VA, Herrera VLM, Freeman D, Tolan DR. Genes required for fructose metabolism are expressed in Purkinje cells in the cerebellum. Molecular Brain Research. Jan. 2006;142(2):115–122.

Buyalos RP, Funari VA, Azziz R, Watson JM, Martinez-Maza O. Elevated interleukin-6 levels in peritoneal fluid of patients with pelvic pathology. Fertility and Sterility. Sept. 1992;58(2):302–306.

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