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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 199

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Deep Mutational Scan of an Voltage Sensor.
Glazer AM, Kroncke BM, Matreyek KA, Yang T, Wada Y, Shields T, Salem JE, Fowler DM, Roden DM
(2020) Circ Genom Precis Med 13: e002786
MeSH Terms: Cardiotonic Agents, DNA Mutational Analysis, HEK293 Cells, Humans, Marine Toxins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Ouabain, Oxocins, Pharmacogenomic Testing, Veratridine
Added March 4, 2020
0 Communities
2 Members
0 Resources
11 MeSH Terms
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC
(2018) Science 359: 1233-1239
MeSH Terms: DNA Mutational Analysis, Databases, Genetic, Electronic Health Records, Exome, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Risk Factors
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Exploiting ion channel structure to assess rare variant pathogenicity.
Kroncke BM, Yang T, Kannankeril P, Shoemaker MB, Roden DM
(2018) Heart Rhythm 15: 890-894
MeSH Terms: Adolescent, Adult, Body Surface Potential Mapping, DNA, DNA Mutational Analysis, ERG1 Potassium Channel, Female, Humans, KCNQ1 Potassium Channel, Long QT Syndrome, Mutation, Pedigree, Phenotype
Added March 26, 2019
0 Communities
3 Members
0 Resources
MeSH Terms
Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant.
Vishnivetskiy SA, Sullivan LS, Bowne SJ, Daiger SP, Gurevich EV, Gurevich VV
(2018) Invest Ophthalmol Vis Sci 59: 13-20
MeSH Terms: Arrestin, Cells, Cultured, DNA, DNA Mutational Analysis, Humans, Mutant Proteins, Mutation, Phosphorylation, Retinitis Pigmentosa
Added March 14, 2018
0 Communities
1 Members
0 Resources
9 MeSH Terms
The Impact of Smoking and TP53 Mutations in Lung Adenocarcinoma Patients with Targetable Mutations-The Lung Cancer Mutation Consortium (LCMC2).
Aisner DL, Sholl LM, Berry LD, Rossi MR, Chen H, Fujimoto J, Moreira AL, Ramalingam SS, Villaruz LC, Otterson GA, Haura E, Politi K, Glisson B, Cetnar J, Garon EB, Schiller J, Waqar SN, Sequist LV, Brahmer J, Shyr Y, Kugler K, Wistuba II, Johnson BE, Minna JD, Kris MG, Bunn PA, Kwiatkowski DJ, LCMC2 investigators
(2018) Clin Cancer Res 24: 1038-1047
MeSH Terms: Adenocarcinoma of Lung, Adult, Aged, Aged, 80 and over, Antineoplastic Agents, Biomarkers, Tumor, Carcinogenesis, DNA Mutational Analysis, Female, High-Throughput Nucleotide Sequencing, Humans, Lung Neoplasms, Male, Middle Aged, Molecular Targeted Therapy, Mutation, Prognosis, Prospective Studies, Smoking, Survival Analysis, Treatment Outcome, Tumor Suppressor Protein p53, Young Adult
Added April 3, 2018
0 Communities
1 Members
0 Resources
23 MeSH Terms
Frequent BRAF mutations suggest a novel oncogenic driver in colonic neuroendocrine carcinoma.
Idrees K, Padmanabhan C, Liu E, Guo Y, Gonzalez RS, Berlin J, Dahlman KB, Beauchamp RD, Shi C
(2018) J Surg Oncol 117: 284-289
MeSH Terms: Adult, Aged, Biomarkers, Tumor, Carcinogenesis, Case-Control Studies, Colonic Neoplasms, DNA Mutational Analysis, DNA, Neoplasm, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mutation, Neuroendocrine Tumors, Prognosis, Proto-Oncogene Proteins B-raf
Added March 14, 2018
0 Communities
2 Members
0 Resources
17 MeSH Terms
Diagnostic value of histone 3 mutations in osteoclast-rich bone tumors.
Nohr E, Lee LH, Cates JM, Perizzolo M, Itani D
(2017) Hum Pathol 68: 119-127
MeSH Terms: Adolescent, Adult, Aged, Alberta, Biomarkers, Tumor, Bone Cysts, Aneurysmal, Bone Neoplasms, Child, Chondroblastoma, DNA Mutational Analysis, Diagnosis, Differential, Disease-Free Survival, Female, Genetic Predisposition to Disease, Giant Cell Tumor of Bone, Histones, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Mutation, Osteoclasts, Phenotype, Predictive Value of Tests, Tennessee, Time Factors, Young Adult
Added November 1, 2018
0 Communities
1 Members
0 Resources
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
Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.
Kropski JA, Young LR, Cogan JD, Mitchell DB, Lancaster LH, Worrell JA, Markin C, Liu N, Mason WR, Fingerlin TE, Schwartz DA, Lawson WE, Blackwell TS, Phillips JA, Loyd JE
(2017) Am J Respir Crit Care Med 195: 1423-1428
MeSH Terms: DNA Mutational Analysis, Genetic Testing, Humans, Idiopathic Pulmonary Fibrosis, Mutation
Added March 29, 2017
1 Communities
1 Members
0 Resources
5 MeSH Terms
Mutational landscape of EGFR-, MYC-, and Kras-driven genetically engineered mouse models of lung adenocarcinoma.
McFadden DG, Politi K, Bhutkar A, Chen FK, Song X, Pirun M, Santiago PM, Kim-Kiselak C, Platt JT, Lee E, Hodges E, Rosebrock AP, Bronson RT, Socci ND, Hannon GJ, Jacks T, Varmus H
(2016) Proc Natl Acad Sci U S A 113: E6409-E6417
MeSH Terms: Adenocarcinoma, Adenocarcinoma of Lung, Animals, Carcinogens, Cell Transformation, Neoplastic, DNA Copy Number Variations, DNA Mutational Analysis, Disease Models, Animal, ErbB Receptors, Gene Dosage, Genes, myc, Genes, ras, Genome-Wide Association Study, Lung Neoplasms, Mice, Mice, Transgenic, Mutation, Point Mutation, ROC Curve, Whole Exome Sequencing
Added April 26, 2017
0 Communities
1 Members
0 Resources
20 MeSH Terms