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Creative Data Solutions (CDS) is a Vanderbilt Shared Resource and has extensive experience in providing effective and robust solutions to challenges pertaining to research data using modern informatics and bioinformatics approaches.
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Connections to Homozygote are shown below. Double-click or tap a node for more information.
Please note that publication matches are limited to 40 in this view. If you expected more, please view all publication matches for Homozygote.
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Publications
- Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Wang TJ, Zhang F, Richards JB, Kestenbaum B, van Meurs JB, Berry D, Kiel DP, Streeten EA, Ohlsson C, Koller DL, Peltonen L, Cooper JD, O'Reilly PF, Houston DK, Glazer NL, Vandenput L, Peacock M, Shi J, Rivadeneira F, McCarthy MI, Anneli P, de Boer IH, Mangino M, Kato B, Smyth DJ, Booth SL, Jacques PF, Burke GL, Goodarzi M, Cheung CL, Wolf M, Rice K, Goltzman D, Hidiroglou N, Ladouceur M, Wareham NJ, Hocking LJ, Hart D, Arden NK, Cooper C, Malik S, Fraser WD, Hartikainen AL, Zhai G, Macdonald HM, Forouhi NG, Loos RJ, Reid DM, Hakim A, Dennison E, Liu Y, Power C, Stevens HE, Jaana L, Vasan RS, Soranzo N, Bojunga J, Psaty BM, Lorentzon M, Foroud T, Harris TB, Hofman A, Jansson JO, Cauley JA, Uitterlinden AG, Gibson Q, Järvelin MR, Karasik D, Siscovick DS, Econs MJ, Kritchevsky SB, Florez JC, Todd JA, Dupuis J, Hyppönen E, Spector TD
(2010) Lancet 376: 180-8 - Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.
Lowe LA, Supp DM, Sampath K, Yokoyama T, Wright CV, Potter SS, Overbeek P, Kuehn MR
(1996) Nature 381: 158-61 - Embryonic lethality in mice homozygous for a processing-deficient allele of Notch1.
Huppert SS, Le A, Schroeter EH, Mumm JS, Saxena MT, Milner LA, Kopan R
(2000) Nature 405: 966-70 - The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation.
Mortlock DP, Post LC, Innis JW
(1996) Nat Genet 13: 284-9 - The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
(2002) Nat Genet 32: 384-92 - Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype.
Threadgill DW, Dlugosz AA, Hansen LA, Tennenbaum T, Lichti U, Yee D, LaMantia C, Mourton T, Herrup K, Harris RC
(1995) Science 269: 230-4 - Genetics. Insights into the pathogenesis of autism.
Sutcliffe JS
(2008) Science 321: 208-9 - Anthracycline-related cardiomyopathy after childhood cancer: role of polymorphisms in carbonyl reductase genes--a report from the Children's Oncology Group.
Blanco JG, Sun CL, Landier W, Chen L, Esparza-Duran D, Leisenring W, Mays A, Friedman DL, Ginsberg JP, Hudson MM, Neglia JP, Oeffinger KC, Ritchey AK, Villaluna D, Relling MV, Bhatia S
(2012) J Clin Oncol 30: 1415-21 - Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ
(2013) Neuron 77: 235-42 - Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
(2011) Genome Res 21: 658-64 - Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy.
Perkins MJ, Van Driest SL, Ellsworth EG, Will ML, Gersh BJ, Ommen SR, Ackerman MJ
(2005) Eur Heart J 26: 2457-62 - Orthostatic hypotension and novel blood pressure-associated gene variants: Genetics of Postural Hemodynamics (GPH) Consortium.
Fedorowski A, Franceschini N, Brody J, Liu C, Verwoert GC, Boerwinkle E, Couper D, Rice KM, Rotter JI, Mattace-Raso F, Uitterlinden A, Hofman A, Almgren P, Sjögren M, Hedblad B, Larson MG, Newton-Cheh C, Wang TJ, Rose KM, Psaty BM, Levy D, Witteman J, Melander O
(2012) Eur Heart J 33: 2331-41 - LRIG1 Regulates Ontogeny of Smooth Muscle-Derived Subsets of Interstitial Cells of Cajal in Mice.
Kondo J, Powell AE, Wang Y, Musser MA, Southard-Smith EM, Franklin JL, Coffey RJ
(2015) Gastroenterology 149: 407-19.e8 - Collecting duct-specific knockout of endothelin-1 causes hypertension and sodium retention.
Ahn D, Ge Y, Stricklett PK, Gill P, Taylor D, Hughes AK, Yanagisawa M, Miller L, Nelson RD, Kohan DE
(2004) J Clin Invest 114: 504-11 - Elevated cholesterol and bile acid synthesis in an adult patient with homozygous familial hypercholesterolemia. Reduction by a high glucose diet.
Stacpoole PW, Grundy SM, Swift LL, Greene HL, Slonim AE, Burr IM
(1981) J Clin Invest 68: 1166-71 - The gene encoding bone morphogenetic protein 8B is required for the initiation and maintenance of spermatogenesis in the mouse.
Zhao GQ, Deng K, Labosky PA, Liaw L, Hogan BL
(1996) Genes Dev 10: 1657-69 - The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo.
Winnier GE, Hargett L, Hogan BL
(1997) Genes Dev 11: 926-40 - Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse.
Winnier G, Blessing M, Labosky PA, Hogan BL
(1995) Genes Dev 9: 2105-16 - A null c-myc mutation causes lethality before 10.5 days of gestation in homozygotes and reduced fertility in heterozygous female mice.
Davis AC, Wims M, Spotts GD, Hann SR, Bradley A
(1993) Genes Dev 7: 671-82 - Intellectual disability is associated with increased runs of homozygosity in simplex autism.
Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM
(2013) Am J Hum Genet 93: 103-9 - Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP
(2015) Am J Hum Genet 97: 512-20 - Rational inferences about departures from Hardy-Weinberg equilibrium.
Wittke-Thompson JK, Pluzhnikov A, Cox NJ
(2005) Am J Hum Genet 76: 967-86 - RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Spurdle AB, Chen X, Waddell N, Cloonan N, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Kirchhoff T, Offit K, Friedman E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara O, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF, Chenevix-Trench G, Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
(2007) Am J Hum Genet 81: 1186-200 - Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL
(2003) Am J Hum Genet 72: 419-28 - A common functional promoter variant links CNR1 gene expression to HDL cholesterol level.
Feng Q, Vickers KC, Anderson MP, Levin MG, Chen W, Harrison DG, Wilke RA
(2013) Nat Commun 4: 1973 - What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R
(2012) Brain 135: 3614-26 - Segregation patterns of polymorphic restriction sites of the gene encoding the alpha subunit of human chorionic gonadotropin in trophoblastic disease.
Hoshina M, Boothby MR, Hussa RD, Pattillo RA, Camel HM, Boime I
(1984) Proc Natl Acad Sci U S A 81: 2504-7 - Importance of epidermal growth factor receptor signaling in establishment of adenomas and maintenance of carcinomas during intestinal tumorigenesis.
Roberts RB, Min L, Washington MK, Olsen SJ, Settle SH, Coffey RJ, Threadgill DW
(2002) Proc Natl Acad Sci U S A 99: 1521-6 - Polyclonality of familial murine adenomas: analyses of mouse chimeras with low tumor multiplicity suggest short-range interactions.
Thliveris AT, Halberg RB, Clipson L, Dove WF, Sullivan R, Washington MK, Stanhope S, Newton MA
(2005) Proc Natl Acad Sci U S A 102: 6960-5 - Altered natural killer cell repertoire in Tap-1 mutant mice.
Ljunggren HG, Van Kaer L, Ploegh HL, Tonegawa S
(1994) Proc Natl Acad Sci U S A 91: 6520-4 - Endonuclease G is required for early embryogenesis and normal apoptosis in mice.
Zhang J, Dong M, Li L, Fan Y, Pathre P, Dong J, Lou D, Wells JM, Olivares-Villagómez D, Van Kaer L, Wang X, Xu M
(2003) Proc Natl Acad Sci U S A 100: 15782-7 - The Arabidopsis HOMOLOGY-DEPENDENT GENE SILENCING1 gene codes for an S-adenosyl-L-homocysteine hydrolase required for DNA methylation-dependent gene silencing.
Rocha PS, Sheikh M, Melchiorre R, Fagard M, Boutet S, Loach R, Moffatt B, Wagner C, Vaucheret H, Furner I
(2005) Plant Cell 17: 404-17 - Germ-line inactivation of the murine Eck receptor tyrosine kinase by gene trap retroviral insertion.
Chen J, Nachabah A, Scherer C, Ganju P, Reith A, Bronson R, Ruley HE
(1996) Oncogene 12: 979-88 - Loss of TGF-beta type II receptor in fibroblasts promotes mammary carcinoma growth and invasion through upregulation of TGF-alpha-, MSP- and HGF-mediated signaling networks.
Cheng N, Bhowmick NA, Chytil A, Gorksa AE, Brown KA, Muraoka R, Arteaga CL, Neilson EG, Hayward SW, Moses HL
(2005) Oncogene 24: 5053-68 - Endothelial NO synthase polymorphisms and postural tachycardia syndrome.
Garland EM, Winker R, Williams SM, Jiang L, Stanton K, Byrne DW, Biaggioni I, Cascorbi I, Phillips JA, Harris PA, Rüdiger H, Robertson D
(2005) Hypertension 46: 1103-10 - Genetic variants in transcription factors are associated with the pharmacokinetics and pharmacodynamics of metformin.
Goswami S, Yee SW, Stocker S, Mosley JD, Kubo M, Castro R, Mefford JA, Wen C, Liang X, Witte J, Brett C, Maeda S, Simpson MD, Hedderson MM, Davis RL, Roden DM, Giacomini KM, Savic RM
(2014) Clin Pharmacol Ther 96: 370-9 - Gene-nutrient interactions in the metabolic syndrome: single nucleotide polymorphisms in ADIPOQ and ADIPOR1 interact with plasma saturated fatty acids to modulate insulin resistance.
Ferguson JF, Phillips CM, Tierney AC, Pérez-Martínez P, Defoort C, Helal O, Lairon D, Planells R, Shaw DI, Lovegrove JA, Gjelstad IM, Drevon CA, Blaak EE, Saris WH, Leszczynska-Golabek I, Kiec-Wilk B, Risérus U, Karlström B, Miranda JL, Roche HM
(2010) Am J Clin Nutr 91: 794-801 - Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes.
Triolo TM, Baschal EE, Armstrong TK, Toews CS, Fain PR, Rewers MJ, Yu L, Miao D, Eisenbarth GS, Gottlieb PA, Barker JM
(2009) J Clin Endocrinol Metab 94: 4517-23 - Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S
(1999) J Clin Endocrinol Metab 84: 1061-71 - The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart.
Clark TG, Conway SJ, Scott IC, Labosky PA, Winnier G, Bundy J, Hogan BL, Greenspan DS
(1999) Development 126: 2631-42
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