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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 30

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Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.
Bastarache L, Hughey JJ, Goldstein JA, Bastraache JA, Das S, Zaki NC, Zeng C, Tang LA, Roden DM, Denny JC
(2019) J Am Med Inform Assoc 26: 1437-1447
MeSH Terms: Adult, Child, Cystic Fibrosis, Data Mining, Electronic Health Records, Genetic Diseases, Inborn, Humans, International Classification of Diseases, Phenotype, Risk Factors
Added March 24, 2020
0 Communities
1 Members
0 Resources
10 MeSH Terms
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Ahmed IA, Farooqi MS, Vander Lugt MT, Boklan J, Rose M, Friehling ED, Triplett B, Lieuw K, Saldana BD, Smith CM, Schwartz JR, Goyal RK
(2019) Biol Blood Marrow Transplant 25: 2186-2196
MeSH Terms: Allografts, Child, Preschool, Disease-Free Survival, Female, Genetic Diseases, Inborn, Germ-Line Mutation, Hematopoietic Stem Cell Transplantation, Humans, Infant, Intracellular Signaling Peptides and Proteins, Male, Myelodysplastic Syndromes, Retrospective Studies, Survival Rate, Syndrome, Tumor Suppressor Proteins
Added September 19, 2019
0 Communities
1 Members
0 Resources
16 MeSH Terms
Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers.
Chappell JC, Payne LB, Rathmell WK
(2019) J Clin Invest 129: 442-451
MeSH Terms: Carcinoma, Renal Cell, Cell Hypoxia, Genetic Diseases, Inborn, Humans, Kidney Neoplasms, Leiomyomatosis, Models, Biological, Mutation, Neoplastic Syndromes, Hereditary, Neovascularization, Pathologic, Von Hippel-Lindau Tumor Suppressor Protein
Added October 30, 2019
0 Communities
1 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
Disruption of Rab8a and Rab11a causes formation of basolateral microvilli in neonatal enteropathy.
Feng Q, Bonder EM, Engevik AC, Zhang L, Tyska MJ, Goldenring JR, Gao N
(2017) J Cell Sci 130: 2491-2505
MeSH Terms: Animals, Enterocytes, Genetic Diseases, Inborn, Intestinal Diseases, Mice, Mice, Knockout, Microvilli, Myosin Type V, rab GTP-Binding Proteins
Added April 10, 2018
0 Communities
1 Members
0 Resources
9 MeSH Terms
Integrating Diverse Types of Genomic Data to Identify Genes that Underlie Adverse Pregnancy Phenotypes.
Hirbo J, Eidem H, Rokas A, Abbot P
(2015) PLoS One 10: e0144155
MeSH Terms: Female, Gene Expression Regulation, Genetic Diseases, Inborn, Humans, Models, Genetic, Phenotype, Placenta, Pregnancy, Premature Birth
Added February 22, 2016
0 Communities
1 Members
0 Resources
9 MeSH Terms
Network.assisted analysis to prioritize GWAS results: principles, methods and perspectives.
Jia P, Zhao Z
(2014) Hum Genet 133: 125-38
MeSH Terms: Algorithms, Computational Biology, Data Mining, Databases, Genetic, Genetic Diseases, Inborn, Genome-Wide Association Study, Genotype, Humans, Internet, Polymorphism, Single Nucleotide
Added March 7, 2014
0 Communities
1 Members
0 Resources
10 MeSH Terms
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
MeSH Terms: Child, Child Development Disorders, Pervasive, Chromosomes, Human, Female, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetics, Population, Homozygote, Humans, Intellectual Disability, Intelligence Tests, Male, Pedigree, Phenotype, Sex Factors
Added February 20, 2014
0 Communities
1 Members
0 Resources
16 MeSH Terms
Animal models of fibrotic lung disease.
B Moore B, Lawson WE, Oury TD, Sisson TH, Raghavendran K, Hogaboam CM
(2013) Am J Respir Cell Mol Biol 49: 167-79
MeSH Terms: Animals, Cell Communication, Disease Models, Animal, Epithelial Cells, Genetic Diseases, Inborn, Humans, Lung Diseases, Interstitial, Pulmonary Alveoli, Pulmonary Fibrosis, Respiratory Distress Syndrome, Respiratory Mucosa
Added May 27, 2014
0 Communities
1 Members
0 Resources
11 MeSH Terms
Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?
Samuels DC, Wonnapinij P, Chinnery PF
(2013) Hum Reprod 28: 554-9
MeSH Terms: Animals, Chimera, DNA, Mitochondrial, Extrachromosomal Inheritance, Female, Gene Transfer Techniques, Genetic Diseases, Inborn, Genetic Therapy, Germ Cells, Humans, Models, Genetic, Mutation, Ovum, Reproductive Techniques, Assisted, United Kingdom
Added December 12, 2013
0 Communities
1 Members
0 Resources
15 MeSH Terms