23 results for author:"Mullikin J.C." in Literature citations
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| 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 (10) |
| 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 (4) |
| 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 (2) |
| 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 (2) |
| 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 (5) |
| 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. |
| 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. |
| 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) |
| The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa. Ryan J.F., Pang K., Mullikin J.C., Martindale M.Q., Baxevanis A.D. Evodevo 1:9-9(2010) · UniProtKB (75) |
| Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations. Ng D., Spaulding E., Mullikin J.C., Biesecker L.G. Atherosclerosis 211:397-398(2010) · Mapped (7) |
| Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Johnston J.J., Teer J.K., Cherukuri P.F., Hansen N.F., Loftus S.K., Chong K., Mullikin J.C., Biesecker L.G. Am. J. Hum. Genet. 86:743-748(2010) · UniProtKB (1) · Mapped (5) |
| Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. Kang C., Riazuddin S., Mundorff J., Krasnewich D., Friedman P., Mullikin J.C., Drayna D. N. Engl. J. Med. 362:677-685(2010) · Mapped (10) |
| Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Lagresle-Peyrou C., Six E.M., Picard C., Rieux-Laucat F., Michel V., Ditadi A., Chappedelaine C.D., Morillon E., Valensi F., Simon-Stoos K.L. et al. |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,805) |
| The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. Stein L.D., Bao Z., Blasiar D., Blumenthal T., Brent M.R., Chen N., Chinwalla A., Clarke L., Clee C., Coghlan A. et al. PLoS Biol. 1:166-192(2003) · UniProtKB (21,703) |
| The DNA sequence and analysis of human chromosome 6. Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E. et al. Nature 425:805-811(2003) · UniProtKB (3,165) |
| Revisiting the mouse mitochondrial DNA sequence. Bayona-Bafaluy M.P., Acin-Perez R., Mullikin J.C., Park J.S., Moreno-Loshuertos R., Hu P., Perez-Martos A., Fernandez-Silva P., Bai Y., Enriquez J.A. Nucleic Acids Res. 31:5349-5355(2003) · UniProtKB (18) · Mapped (22) |
| Initial sequencing and comparative analysis of the mouse genome. Waterston R.H., Lindblad-Toh K., Birney E., Rogers J., Abril J.F., Agarwal P., Agarwala R., Ainscough R., Alexandersson M., An P. et al. Nature 420:520-562(2002) · UniProtKB (2) |
| The DNA sequence and comparative analysis of human chromosome 20. Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L. et al. Nature 414:865-871(2001) · UniProtKB (1,335) |