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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 191

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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium
(2020) Nat Commun 11: 4748
MeSH Terms: Base Composition, DNA, Intergenic, Databases, Genetic, Exome, Exons, Genome, Human, Humans, Mutation, Neoplasms, Retrospective Studies, Whole Exome Sequencing, Whole Genome Sequencing
Added April 27, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
On-target Resistance to the Mutant-Selective EGFR Inhibitor Osimertinib Can Develop in an Allele-Specific Manner Dependent on the Original EGFR-Activating Mutation.
Brown BP, Zhang YK, Westover D, Yan Y, Qiao H, Huang V, Du Z, Smith JA, Ross JS, Miller VA, Ali S, Bazhenova L, Schrock AB, Meiler J, Lovly CM
(2019) Clin Cancer Res 25: 3341-3351
MeSH Terms: Acrylamides, Alleles, Aniline Compounds, Carcinoma, Non-Small-Cell Lung, Cell Line, Tumor, Dose-Response Relationship, Drug, Drug Resistance, Neoplasm, ErbB Receptors, Exons, Gene Expression Profiling, Humans, Lung Neoplasms, Models, Molecular, Mutation, Protein Binding, Protein Kinase Inhibitors, Structure-Activity Relationship
Added March 21, 2020
0 Communities
2 Members
0 Resources
17 MeSH Terms
Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use.
Marees AT, Hammerschlag AR, Bastarache L, de Kluiver H, Vorspan F, van den Brink W, Smit DJ, Denys D, Gamazon ER, Li-Gao R, Breetvelt EJ, de Groot MCH, Galesloot TE, Vermeulen SH, Poppelaars JL, Souverein PC, Keeman R, de Mutsert R, Noordam R, Rosendaal FR, Stringa N, Mook-Kanamori DO, Vaartjes I, Kiemeney LA, den Heijer M, van Schoor NM, Klungel OH, Maitland-Van der Zee AH, Schmidt MK, Polderman TJC, van der Leij AR, Posthuma D, Derks EM
(2018) Drug Alcohol Depend 188: 94-101
MeSH Terms: Alcohol Drinking, Alcoholism, Cohort Studies, Exons, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Receptors, Nicotinic, Risk Factors, Tobacco Use, Tobacco Use Disorder
Added May 26, 2018
0 Communities
1 Members
0 Resources
15 MeSH Terms
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP
(2017) Invest Ophthalmol Vis Sci 58: 2774-2784
MeSH Terms: Adult, Aged, Arrestin, DNA Mutational Analysis, Exons, Female, Genes, Dominant, High-Throughput Nucleotide Sequencing, Hispanic Americans, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Retina, Retinitis Pigmentosa, Southwestern United States
Added March 14, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
Molecular dissection of effector mechanisms of RAS-mediated resistance to anti-EGFR antibody therapy.
Kasper S, Reis H, Ziegler S, Nothdurft S, Mueller A, Goetz M, Wiesweg M, Phasue J, Ting S, Wieczorek S, Even A, Worm K, Pogorzelski M, Breitenbuecher S, Meiler J, Paul A, Trarbach T, Schmid KW, Breitenbuecher F, Schuler M
(2017) Oncotarget 8: 45898-45917
MeSH Terms: Antineoplastic Agents, Immunological, Apoptosis, Biomarkers, Cell Line, Tumor, Colorectal Neoplasms, Drug Resistance, Neoplasm, ErbB Receptors, Exons, Genes, ras, Humans, Mitogen-Activated Protein Kinases, Mutation, Odds Ratio, Phosphatidylinositol 3-Kinases, Proto-Oncogene Proteins c-akt, Proto-Oncogene Proteins c-bcl-2, Signal Transduction
Added March 17, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
EGFR Fusions as Novel Therapeutic Targets in Lung Cancer.
Konduri K, Gallant JN, Chae YK, Giles FJ, Gitlitz BJ, Gowen K, Ichihara E, Owonikoko TK, Peddareddigari V, Ramalingam SS, Reddy SK, Eaby-Sandy B, Vavalà T, Whiteley A, Chen H, Yan Y, Sheehan JH, Meiler J, Morosini D, Ross JS, Stephens PJ, Miller VA, Ali SM, Lovly CM
(2016) Cancer Discov 6: 601-11
MeSH Terms: Adult, Antineoplastic Agents, Biomarkers, Cell Line, Tumor, Combined Modality Therapy, ErbB Receptors, Exons, Female, Genetic Loci, High-Throughput Nucleotide Sequencing, Humans, Introns, Lung Neoplasms, Magnetic Resonance Imaging, Male, Middle Aged, Models, Molecular, Molecular Targeted Therapy, Neoplasm Metastasis, Oncogene Proteins, Fusion, Protein Conformation, Protein Kinase Inhibitors, Rad51 Recombinase, Young Adult
Added April 8, 2017
1 Communities
3 Members
0 Resources
24 MeSH Terms
Reversing Tolerance in Isotype Switch-Competent Anti-Insulin B Lymphocytes.
Williams JM, Bonami RH, Hulbert C, Thomas JW
(2015) J Immunol 195: 853-64
MeSH Terms: Animals, Autoantibodies, Autoimmunity, B-Lymphocytes, CD40 Antigens, Diabetes Mellitus, Type 1, Immune Tolerance, Immunoglobulin G, Immunoglobulin M, Insulin, Insulin Antibodies, Lipopolysaccharides, Mice, Mice, Inbred C57BL, Mice, Transgenic, Molecular Sequence Data, VDJ Exons
Added December 4, 2015
2 Communities
2 Members
0 Resources
17 MeSH Terms
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
Carroll C, Hunley TE, Guo Y, Cortez D
(2015) Am J Med Genet A 167A: 2260-4
MeSH Terms: Arteriosclerosis, Child, DNA Helicases, DNA Replication, Exons, Female, Gene Expression, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Introns, Lymphocytes, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Pedigree, Primary Immunodeficiency Diseases, Pulmonary Embolism, RNA Splice Sites
Added February 4, 2016
0 Communities
2 Members
0 Resources
19 MeSH Terms
TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.
Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, Eyre S, Bowes J, Cui J, Lee A, Pappas DA, Kremer JM, Barton A, Coenen MJ, Franke B, Kiemeney LA, Mariette X, Richard-Miceli C, Canhão H, Fonseca JE, de Vries N, Tak PP, Crusius JB, Nurmohamed MT, Kurreeman F, Mikuls TR, Okada Y, Stahl EA, Larson DE, Deluca TL, O'Laughlin M, Fronick CC, Fulton LL, Kosoy R, Ransom M, Bhangale TR, Ortmann W, Cagan A, Gainer V, Karlson EW, Kohane I, Murphy SN, Martin J, Zhernakova A, Klareskog L, Padyukov L, Worthington J, Mardis ER, Seldin MF, Gregersen PK, Behrens T, Raychaudhuri S, Denny JC, Plenge RM
(2015) PLoS One 10: e0122271
MeSH Terms: Arthritis, Rheumatoid, Autoimmunity, Cell Adhesion Molecules, Electronic Health Records, Exons, Genetic Loci, Genetic Pleiotropy, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, TYK2 Kinase
Added March 14, 2018
0 Communities
1 Members
0 Resources
11 MeSH Terms
PIK3CA mutations in Peruvian patients with HER2-amplified and triple negative non-metastatic breast cancers.
Castaneda CA, Lopez-Ilasaca M, Pinto JA, Chirinos-Arias M, Doimi F, Neciosup SP, Rojas KI, Vidaurre T, Balko JM, Arteaga CL, Gomez HL
(2014) Hematol Oncol Stem Cell Ther 7: 142-8
MeSH Terms: Biomarkers, Tumor, Breast Neoplasms, Class I Phosphatidylinositol 3-Kinases, Cohort Studies, Exons, Female, Gene Amplification, Humans, Middle Aged, Mutation, Neoadjuvant Therapy, Peru, Phosphatidylinositol 3-Kinases, Receptor, ErbB-2, Triple Negative Breast Neoplasms
Added April 6, 2017
0 Communities
1 Members
0 Resources
15 MeSH Terms