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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 280

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Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.
Guo X, Long J, Chen Z, Shu XO, Xiang YB, Wen W, Zeng C, Gao YT, Cai Q, Zheng W
(2020) Int J Cancer 146: 2175-2181
MeSH Terms: Adult, Aged, BRCA2 Protein, Breast Neoplasms, Case-Control Studies, China, Databases, Genetic, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Ketoglutarate Dehydrogenase Complex, Middle Aged, Mutation, Missense, Whole Exome Sequencing
Added March 3, 2020
0 Communities
1 Members
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15 MeSH Terms
High and variable population prevalence of HLA-B*56:02 in indigenous Australians and relation to phenytoin-associated drug reaction with eosinophilia and systemic symptoms.
Somogyi AA, Barratt DT, Phillips EJ, Moore K, Ilyas F, Gabb GM
(2019) Br J Clin Pharmacol 85: 2163-2169
MeSH Terms: Adolescent, Adult, Aged, Australia, Biological Variation, Population, Cohort Studies, Cytochrome P-450 CYP2C9, Drug Hypersensitivity Syndrome, Female, Gene Frequency, Genetic Predisposition to Disease, Genotyping Techniques, HLA-B Antigens, Humans, Indigenous Peoples, Male, Middle Aged, Phenytoin, Young Adult
Added March 30, 2020
0 Communities
1 Members
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19 MeSH Terms
Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 496 adults from San Diego, California, USA.
Moore E, Grifoni A, Weiskopf D, Schulten V, Arlehamn CSL, Angelo M, Pham J, Leary S, Sidney J, Broide D, Frazier A, Phillips E, Mallal S, Mack SJ, Sette A
(2018) Hum Immunol 79: 821-822
MeSH Terms: Adolescent, Adult, Alleles, California, Female, Gene Frequency, Genotype, Genotyping Techniques, HLA-A Antigens, HLA-B Antigens, HLA-C Antigens, HLA-DP Antigens, HLA-DQ Antigens, HLA-DR Antigens, Histocompatibility Testing, Humans, Linkage Disequilibrium, Male, Middle Aged, Sequence Analysis, DNA, T-Lymphocytes, Young Adult
Added March 30, 2020
0 Communities
1 Members
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MeSH Terms
Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.
Wang H, Nandakumar P, Tekola-Ayele F, Tayo BO, Ware EB, Gu CC, Lu Y, Yao J, Zhao W, Smith JA, Hellwege JN, Guo X, Edwards TL, Loos RJF, Arnett DK, Fornage M, Rotimi C, Kardia SLR, Cooper RS, Rao DC, Ehret G, Chakravarti A, Zhu X
(2019) Eur J Hum Genet 27: 269-277
MeSH Terms: African Americans, Chromosomes, Human, Pair 1, Gene Frequency, Genome-Wide Association Study, Humans, Hypertension, Linkage Disequilibrium, Polymorphism, Single Nucleotide
Added March 3, 2020
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MeSH Terms
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.
Wei WQ, Li X, Feng Q, Kubo M, Kullo IJ, Peissig PL, Karlson EW, Jarvik GP, Lee MTM, Shang N, Larson EA, Edwards T, Shaffer CM, Mosley JD, Maeda S, Horikoshi M, Ritchie M, Williams MS, Larson EB, Crosslin DR, Bland ST, Pacheco JA, Rasmussen-Torvik LJ, Cronkite D, Hripcsak G, Cox NJ, Wilke RA, Stein CM, Rotter JI, Momozawa Y, Roden DM, Krauss RM, Denny JC
(2018) Circulation 138: 1839-1849
MeSH Terms: Case-Control Studies, Coronary Disease, Databases, Genetic, Dyslipidemias, Electronic Health Records, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Lipoprotein(a), Phenotype, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Time Factors, Treatment Outcome
Added March 24, 2020
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MeSH Terms
Pathogenic Germline Variants in 10,389 Adult Cancers.
Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ, Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L
(2018) Cell 173: 355-370.e14
MeSH Terms: DNA Copy Number Variations, Databases, Genetic, Gene Deletion, Gene Frequency, Genetic Predisposition to Disease, Genotype, Germ Cells, Germ-Line Mutation, Humans, Loss of Heterozygosity, Mutation, Missense, Neoplasms, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins c-met, Proto-Oncogene Proteins c-ret, Tumor Suppressor Proteins
Added October 30, 2019
0 Communities
1 Members
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MeSH Terms
Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 159 individuals from the Worcester region of the Western Cape province of South Africa.
Grifoni A, Sidney J, Carpenter C, Phillips E, Mallal S, Scriba TJ, Sette A, Lindestam Arlehamn CS
(2018) Hum Immunol 79: 143-144
MeSH Terms: Databases, Genetic, Gene Frequency, Genotype, HLA-A Antigens, HLA-B Antigens, HLA-C Antigens, HLA-DQ Antigens, HLA-DR Antigens, Humans, Lymphocyte Activation, Mycobacterium tuberculosis, Sequence Analysis, DNA, South Africa, T-Lymphocytes, Tuberculosis
Added March 30, 2020
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MeSH Terms
Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.
Hong J, Hatchell KE, Bradfield JP, Bjonnes A, Chesi A, Lai CQ, Langefeld CD, Lu L, Lu Y, Lutsey PL, Musani SK, Nalls MA, Robinson-Cohen C, Roizen JD, Saxena R, Tucker KL, Ziegler JT, Arking DE, Bis JC, Boerwinkle E, Bottinger EP, Bowden DW, Gilsanz V, Houston DK, Kalkwarf HJ, Kelly A, Lappe JM, Liu Y, Michos ED, Oberfield SE, Palmer ND, Rotter JI, Sapkota B, Shepherd JA, Wilson JG, Basu S, de Boer IH, Divers J, Freedman BI, Grant SFA, Hakanarson H, Harris TB, Kestenbaum BR, Kritchevsky SB, Loos RJF, Norris JM, Norwood AF, Ordovas JM, Pankow JS, Psaty BM, Sanghera DK, Wagenknecht LE, Zemel BS, Meigs J, Dupuis J, Florez JC, Wang T, Liu CT, Engelman CD, Billings LK
(2018) J Clin Endocrinol Metab 103: 1380-1392
MeSH Terms: Adolescent, Adult, African Americans, Aged, Body Mass Index, Child, European Continental Ancestry Group, Female, Gene Frequency, Genetic Loci, Genome-Wide Association Study, Hispanic Americans, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, United States, Vitamin D, Vitamin D Deficiency, Young Adult
Added January 3, 2019
0 Communities
1 Members
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MeSH Terms
Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 714 adults from Colombo, Sri Lanka.
Grifoni A, Weiskopf D, Lindestam Arlehamn CS, Angelo M, Leary S, Sidney J, Frazier A, Phillips E, Mallal S, Mack SJ, Tippalagama R, Goonewardana S, Premawansa S, Premawansa G, Wijewickrama A, De Silva AD, Sette A
(2018) Hum Immunol 79: 87-88
MeSH Terms: Adult, Animals, Ethnic Groups, Female, Gene Frequency, Genotype, HLA-A Antigens, HLA-B Antigens, HLA-C Antigens, HLA-DP Antigens, HLA-DQ Antigens, HLA-DR Antigens, Healthy Volunteers, Histocompatibility Testing, Humans, Male, Mice, Sequence Analysis, DNA, Sri Lanka, T-Lymphocytes
Added March 30, 2020
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1 Members
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MeSH Terms
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, Dyer T, Blackwell TW, Chen H, Chines PS, Choi S, Churchhouse C, Fontanillas P, King R, Lee S, Lincoln SE, Trubetskoy V, DePristo M, Fingerlin T, Grossman R, Grundstad J, Heath A, Kim J, Kim YJ, Laramie J, Lee J, Li H, Liu X, Livne O, Locke AE, Maller J, Mazur A, Morris AP, Pollin TI, Ragona D, Reich D, Rivas MA, Scott LJ, Sim X, Tearle RG, Teo YY, Williams AL, Zöllner S, Curran JE, Peralta J, Akolkar B, Bell GI, Burtt NP, Cox NJ, Florez JC, Hanis CL, McKeon C, Mohlke KL, Seielstad M, Wilson JG, Atzmon G, Below JE, Dupuis J, Nicolae DL, Lehman D, Park T, Won S, Sladek R, Altshuler D, McCarthy MI, Duggirala R, Boehnke M, Frayling TM, Abecasis GR, Blangero J
(2018) Proc Natl Acad Sci U S A 115: 379-384
MeSH Terms: Diabetes Mellitus, Type 2, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Mexican Americans, Pedigree, Phenotype, Quantitative Trait Loci, Whole Genome Sequencing
Added March 15, 2018
0 Communities
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15 MeSH Terms