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Literature citations Results

Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae.

Conlan S., Thomas P.J., Deming C., Park M., Lau A.F., Dekker J.P., Snitkin E.S., Clark T.A., Luong K., Song Y. et al.

Sci Transl Med 6:254ra126-254ra126(2014) · UniProtKB (33,401)

Enhanced potency of a broadly neutralizing HIV-1 antibody in vitro improves protection against lentiviral infection in vivo.

Rudicell R.S., Kwon Y.D., Ko S.Y., Pegu A., Louder M.K., Georgiev I.S., Wu X., Zhu J., Boyington J.C., Chen X. et al.

J. Virol. 88:12669-12682(2014) · UniProtKB (1)

Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcification.

CHARGE Consortium
Sen S.K., Boelte K.C., Barb J.J., Joehanes R., Zhao X., Cheng Q., Adams L., Teer J.K., Accame D.S., Chowdhury S. et al.

Am. J. Hum. Genet. 95:66-76(2014) · Mapped (1)

Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies.

Doria-Rose N.A., Schramm C.A., Gorman J., Moore P.L., Bhiman J.N., DeKosky B.J., Ernandes M.J., Georgiev I.S., Kim H.J., Pancera M. et al.

Nature 509:55-62(2014) · UniProtKB (134) · Mapped (1)

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q., Yang D., Ombrello A.K., Zavialov A.V., Toro C., Zavialov A.V., Stone D.L., Chae J.J., Rosenzweig S.D., Bishop K. et al.

N. Engl. J. Med. 370:911-920(2014) · UniProtKB (1)

The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution.

Ryan J.F., Pang K., Schnitzler C.E., Nguyen A.D., Moreland R.T., Simmons D.K., Koch B.J., Francis W.R., Havlak P., Smith S.A. et al.

Science 342:1242592-1242592(2013) · UniProtKB (225)

Multidonor analysis reveals structural elements, genetic determinants, and maturation pathway for HIV-1 neutralization by VRC01-class antibodies.

Zhou T., Zhu J., Wu X., Moquin S., Zhang B., Acharya P., Georgiev I.S., Altae-Tran H.R., Chuang G.Y., Joyce M.G. et al.

Immunity 39:245-258(2013) · UniProtKB (4)

To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.

Gandolfi B., Alhaddad H., Affolter V.K., Brockman J., Haggstrom J., Joslin S.E., Koehne A.L., Mullikin J.C., Outerbridge C.A., Warren W.C. et al.

PLoS ONE 8:e67105-e67105(2013) · UniProtKB (1)

Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.

Price J.C., Pollock L.M., Rudd M.L., Fogoros S.K., Mohamed H., Hanigan C.L., Le Gallo M., Program N.I., Zhang S., Cruz P. et al.

PLoS ONE 8:e63313-e63313(2014) · Mapped (10)

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease.

Kirino Y., Zhou Q., Ishigatsubo Y., Mizuki N., Tugal-Tutkun I., Seyahi E., Ozyazgan Y., Ugurlu S., Erer B., Abaci N. et al.

Proc. Natl. Acad. Sci. U.S.A. 110:8134-8139(2013) · Mapped (5)

Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus.

Liao H.X., Lynch R., Zhou T., Gao F., Alam S.M., Boyd S.D., Fire A.Z., Roskin K.M., Schramm C.A., Zhang Z. et al.

Nature 496:469-476(2013) · UniProtKB (1,088)

Specifying and sustaining pigmentation patterns in domestic and wild cats.

Kaelin C.B., Xu X., Hong L.Z., David V.A., McGowan K.A., Schmidt-Kuntzel A., Roelke M.E., Pino J., Pontius J., Cooper G.M. et al.

Science 337:1536-1541(2012) · Mapped (3)

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

McIntyre J.C., Davis E.E., Joiner A., Williams C.L., Tsai I.C., Jenkins P.M., McEwen D.P., Zhang L., Escobado J., Thomas S. et al.

Nat. Med. 18:1423-1428(2012) · Mapped (16)

The bonobo genome compared with the chimpanzee and human genomes.

Prufer K., Munch K., Hellmann I., Akagi K., Miller J.R., Walenz B., Koren S., Sutton G., Kodira C., Winer R. et al.

Nature 486:527-531(2012) · UniProtKB (3)

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

Rees M.G., Ng D., Ruppert S., Turner C., Beer N.L., Swift A.J., Morken M.A., Below J.E., Blech I., Mullikin J.C. et al.

J. Clin. Invest. 122:205-217(2012) · Mapped (3)

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Pierson T.M., Adams D., Bonn F., Martinelli P., Cherukuri P.F., Teer J.K., Hansen N.F., Cruz P., Mullikin J.C., Blakesley R.W. et al.

PLoS Genet. 7:E1002325-E1002325(2011) · UniProtKB (1) · Mapped (4)

Extreme mitochondrial evolution in the ctenophore Mnemiopsis leidyi: Insight from mtDNA and the nuclear genome.

Pett W., Ryan J.F., Pang K., Mullikin J.C., Martindale M.Q., Baxevanis A.D., Lavrov D.V.

Mitochondrial DNA 22:130-142(2011) · UniProtKB (12)

Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.

Bell D.W., Sikdar N., Lee K.Y., Price J.C., Chatterjee R., Park H.D., Fox J., Ishiai M., Rudd M.L., Pollock L.M. et al.

PLoS Genet. 7:e1002245-e1002245(2011) · UniProtKB (1) · Mapped (5)

Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.

Pilon A.M., Ajay S.S., Kumar S.A., Steiner L.A., Cherukuri P.F., Wincovitch S., Anderson S.M., Mullikin J.C., Gallagher P.G., Hardison R.C. et al.

Blood 118:e139-48(2011) · Mapped (4)

Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing.

Wu X., Zhou T., Zhu J., Zhang B., Georgiev I., Wang C., Chen X., Longo N.S., Louder M., McKee K. et al.

Science 333:1593-1602(2011) · UniProtKB (1)

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Lindhurst M.J., Sapp J.C., Teer J.K., Johnston J.J., Finn E.M., Peters K., Turner J., Cannons J.L., Bick D., Blakemore L. et al.

N. Engl. J. Med. 365:611-619(2011) · UniProtKB (1) · Mapped (7)

Personalized genomic medicine: lessons from the exome.

NISC Comparative Sequencing Program
Solomon B.D., Pineda-Alvarez D.E., Hadley D.W., Teer J.K., Cherukuri P.F., Hansen N.F., Cruz P., Young A.C., Blakesley R.W., Lanpher B. et al.

Mol. Genet. Metab. 104:189-191(2011) · UniProtKB (1)

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules.

Gunay-Aygun M., Falik-Zaccai T.C., Vilboux T., Zivony-Elboum Y., Gumruk F., Cetin M., Khayat M., Boerkoel C.F., Kfir N., Huang Y. et al.

Nat. Genet. 43:732-734(2011) · UniProtKB (1) · Mapped (3)

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V. et al.

Nat. Genet. 43:189-196(2011) · UniProtKB (5) · Mapped (3)

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

McLaughlin H.M., Sakaguchi R., Liu C., Igarashi T., Pehlivan D., Chu K., Iyer R., Cruz P., Cherukuri P.F., Hansen N.F. et al.

Am. J. Hum. Genet. 87:560-566(2010) · UniProtKB (1) · Mapped (1)

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