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Page 1
Novel somatic mutations in heterotrimeric G proteins in melanoma.
Cárdenas-Navia LI, Cruz P, Lin JC; NISC Comparative Sequencing Program; Rosenberg SA, Samuels Y. Cárdenas-Navia LI, et al. Among authors: cruz p. Cancer Biol Ther. 2010 Jul 1;10(1):33-7. doi: 10.4161/cbt.10.1.11949. Cancer Biol Ther. 2010. PMID: 20424519 Free PMC article.
Mutational and functional analysis reveals ADAMTS18 metalloproteinase as a novel driver in melanoma.
Wei X, Prickett TD, Viloria CG, Molinolo A, Lin JC, Cardenas-Navia I, Cruz P; NISC Comparative Sequencing Program; Rosenberg SA, Davies MA, Gershenwald JE, López-Otín C, Samuels Y. Wei X, et al. Among authors: cruz p. Mol Cancer Res. 2010 Nov;8(11):1513-25. doi: 10.1158/1541-7786.MCR-10-0262. Epub 2010 Oct 13. Mol Cancer Res. 2010. PMID: 21047771 Free PMC article.
Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1.
Rudd ML, Mohamed H, Price JC, O'Hara AJ, Le Gallo M, Urick ME; NISC Comparative Sequencing Program; Cruz P, Zhang S, Hansen NF, Godwin AK, Sgroi DC, Wolfsberg TG, Mullikin JC, Merino MJ, Bell DW. Rudd ML, et al. Among authors: cruz p. BMC Cancer. 2014 Nov 26;14:884. doi: 10.1186/1471-2407-14-884. BMC Cancer. 2014. PMID: 25427824 Free PMC article.
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: cruz p. Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Nat Genet. 2011. PMID: 21765412 Free PMC article.
Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.
Bell DW, Sikdar N, Lee KY, Price JC, Chatterjee R, Park HD, Fox J, Ishiai M, Rudd ML, Pollock LM, Fogoros SK, Mohamed H, Hanigan CL; NISC Comparative Sequencing Program; Zhang S, Cruz P, Renaud G, Hansen NF, Cherukuri PF, Borate B, McManus KJ, Stoepel J, Sipahimalani P, Godwin AK, Sgroi DC, Merino MJ, Elliot G, Elkahloun A, Vinson C, Takata M, Mullikin JC, Wolfsberg TG, Hieter P, Lim DS, Myung K. Bell DW, et al. Among authors: cruz p. PLoS Genet. 2011 Aug;7(8):e1002245. doi: 10.1371/journal.pgen.1002245. Epub 2011 Aug 25. PLoS Genet. 2011. PMID: 21901109 Free PMC article.
Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.
Price JC, Pollock LM, Rudd ML, Fogoros SK, Mohamed H, Hanigan CL, Le Gallo M; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program; Zhang S, Cruz P, Cherukuri PF, Hansen NF, McManus KJ, Godwin AK, Sgroi DC, Mullikin JC, Merino MJ, Hieter P, Bell DW. Price JC, et al. Among authors: cruz p. PLoS One. 2013 Jun 3;8(6):e63313. doi: 10.1371/journal.pone.0063313. Print 2014. PLoS One. 2013. PMID: 23755103 Free PMC article.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Pierson TM, et al. Among authors: cruz p. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022284 Free PMC article.
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: cruz p. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Among authors: cruz p. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.
930 results