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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 10 of 11

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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL
(2015) J Med Genet 52: 147-56
MeSH Terms: Animals, Centrioles, Chromosomal Proteins, Non-Histone, Cilia, Exome, Female, Fetus, Genetics, Medical, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Microcephaly, Microfilament Proteins, Mutation, NIH 3T3 Cells, Pedigree, Pregnancy, Zebrafish
Added September 28, 2015
1 Communities
1 Members
0 Resources
20 MeSH Terms
Linking the genetic architecture of cytosine modifications with human complex traits.
Zhang X, Moen EL, Liu C, Mu W, Gamazon ER, Delaney SM, Wing C, Godley LA, Dolan ME, Zhang W
(2014) Hum Mol Genet 23: 5893-905
MeSH Terms: African Continental Ancestry Group, Cytosine, European Continental Ancestry Group, Genetics, Medical, Genome-Wide Association Study, Histones, Humans, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Quantitative Trait Loci
Added April 13, 2017
0 Communities
1 Members
0 Resources
10 MeSH Terms
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, eMERGE Act-ROR Committee and CERC Committee, CSER Act-ROR Working Group, Burke W
(2014) Am J Hum Genet 94: 818-26
MeSH Terms: Biomedical Research, Disclosure, Genetic Privacy, Genetics, Medical, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Patient Access to Records, Population Groups, Societies, Scientific
Added January 23, 2015
0 Communities
1 Members
0 Resources
11 MeSH Terms
Opportunities for genomic clinical decision support interventions.
Overby CL, Kohane I, Kannry JL, Williams MS, Starren J, Bottinger E, Gottesman O, Denny JC, Weng C, Tarczy-Hornoch P, Hripcsak G
(2013) Genet Med 15: 817-23
MeSH Terms: Decision Support Systems, Clinical, Decision Support Techniques, Delivery of Health Care, Genetic Testing, Genetics, Medical, Genomics, Humans, Program Evaluation
Added May 27, 2014
0 Communities
1 Members
0 Resources
8 MeSH Terms
Implementing genomic medicine in the clinic: the future is here.
Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O'Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS
(2013) Genet Med 15: 258-67
MeSH Terms: Genetics, Medical, Genomics, Humans, Research
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Leveraging the electronic health record to implement genomic medicine.
Kullo IJ, Jarvik GP, Manolio TA, Williams MS, Roden DM
(2013) Genet Med 15: 270-1
MeSH Terms: Electronic Health Records, Genetic Counseling, Genetics, Medical, Genomics, Health Personnel, Humans, Medical Informatics, Patient Education as Topic, Research, Workforce
Added June 26, 2014
0 Communities
1 Members
0 Resources
10 MeSH Terms
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.
Fullerton SM, Wolf WA, Brothers KB, Clayton EW, Crawford DC, Denny JC, Greenland P, Koenig BA, Leppig KA, Lindor NM, McCarty CA, McGuire AL, McPeek Hinz ER, Mirel DB, Ramos EM, Ritchie MD, Smith ME, Waudby CJ, Burke W, Jarvik GP
(2012) Genet Med 14: 424-31
MeSH Terms: Biomedical Research, Factor V, Genetics, Medical, Genome-Wide Association Study, Homozygote, Humans, Incidental Findings, Klinefelter Syndrome, Medical Informatics, Research Subjects, Sex Chromosome Aberrations, Truth Disclosure, Turner Syndrome
Added December 10, 2013
0 Communities
2 Members
0 Resources
13 MeSH Terms
The relationship between peroxisome proliferator-activated receptor-gamma and renin: a human genetics study.
Underwood PC, Sun B, Williams JS, Pojoga LH, Chamarthi B, Lasky-Su J, Raby BA, Hopkins PN, Jeunemaitre X, Brown NJ, Adler GK, Williams GH
(2010) J Clin Endocrinol Metab 95: E75-9
MeSH Terms: Adult, African Americans, Alleles, Edema, European Continental Ancestry Group, Female, Gene Frequency, Genetic Predisposition to Disease, Genetics, Medical, Genome-Wide Association Study, Genotype, Humans, Hypertension, Male, Middle Aged, PPAR gamma, Polymorphism, Single Nucleotide, Renin, Skin Diseases
Added December 10, 2013
0 Communities
1 Members
0 Resources
19 MeSH Terms
Finding the missing heritability of complex diseases.
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM
(2009) Nature 461: 747-53
MeSH Terms: Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetics, Medical, Genome-Wide Association Study, Humans, Inheritance Patterns, Pedigree
Added February 22, 2016
0 Communities
1 Members
0 Resources
7 MeSH Terms
Genetics, statistics and human disease: analytical retooling for complexity.
Thornton-Wells TA, Moore JH, Haines JL
(2004) Trends Genet 20: 640-7
MeSH Terms: Genetic Diseases, Inborn, Genetic Heterogeneity, Genetics, Medical, Humans, Models, Genetic, Models, Statistical, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci
Added December 10, 2014
0 Communities
1 Members
0 Resources
9 MeSH Terms