Year |
Citation |
Score |
2012 |
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, et al. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. American Journal of Human Genetics. 91: 1065-72. PMID 23176824 DOI: 10.1016/J.Ajhg.2012.09.015 |
0.382 |
|
2012 |
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7. PMID 22958903 DOI: 10.1016/J.Ajhg.2012.07.009 |
0.459 |
|
2012 |
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, ... ... Shianna KV, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genetics. 44: 1030-4. PMID 22842232 DOI: 10.1038/ng.2358 |
0.458 |
|
2010 |
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. Plos Genetics. 6: e1000991. PMID 20577567 DOI: 10.1371/Journal.Pgen.1000991 |
0.317 |
|
2009 |
Fuhrman LE, Goel AK, Smith J, Shianna KV, Aballay A. Nucleolar proteins suppress Caenorhabditis elegans innate immunity by inhibiting p53/CEP-1. Plos Genetics. 5: e1000657. PMID 19763173 DOI: 10.1371/Journal.Pgen.1000657 |
0.309 |
|
2006 |
Shianna KV, Marchuk DA, Strand MK. Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase. Mitochondrion. 6: 94-101. PMID 16621727 DOI: 10.1016/j.mito.2006.02.003 |
0.315 |
|
2001 |
Shianna KV, Dotson WD, Tove S, Parks LW. Identification of a UPC2 homolog in Saccharomyces cerevisiae and its involvement in aerobic sterol uptake. Journal of Bacteriology. 183: 830-4. PMID 11208779 DOI: 10.1128/Jb.183.3.830-834.2001 |
0.358 |
|
1998 |
Crowley JH, Leak FW, Shianna KV, Tove S, Parks LW. A mutation in a purported regulatory gene affects control of sterol uptake in Saccharomyces cerevisiae. Journal of Bacteriology. 180: 4177-83. PMID 9696767 DOI: 10.1128/Jb.180.16.4177-4183.1998 |
0.59 |
|
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