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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 26

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Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW
(2020) Nat Med 26: 98-109
MeSH Terms: Abnormalities, Multiple, Animals, Behavior, Animal, Biological Specimen Banks, Chondrocytes, Disease Models, Animal, Extracellular Matrix, Fibroblasts, Guanine Nucleotide Exchange Factors, Humans, Models, Biological, Musculoskeletal System, Osteogenesis, Phenomics, Phenotype, Procollagen, Protein Transport, Secretory Pathway, Syndrome, Zebrafish, Zebrafish Proteins
Added January 15, 2020
0 Communities
1 Members
0 Resources
21 MeSH Terms
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD
(2013) Nat Genet 45: 822-4
MeSH Terms: Abnormalities, Multiple, Animals, Case-Control Studies, Chromosomes, Human, Pair 4, Cohort Studies, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Heart Defects, Congenital, Heart Diseases, Heart Septal Defects, Atrial, Humans, Male, Mice, Phenotype
Added March 7, 2014
0 Communities
1 Members
0 Resources
17 MeSH Terms
Proteomic analysis of zebrafish (Danio rerio) embryos exposed to cyclosporine A.
Ponnudurai RP, Basak T, Ahmad S, Bhardwaj G, Chauhan RK, Singh RA, Lalwani MK, Sivasubbu S, Sengupta S
(2012) J Proteomics 75: 1004-17
MeSH Terms: Abnormalities, Multiple, Animals, Cyclosporine, Embryo, Nonmammalian, Female, Gene Expression Regulation, Developmental, Humans, Immunosuppressive Agents, Morphogenesis, Pregnancy, Proteome, Proteomics, Zebrafish, Zebrafish Proteins
Added November 3, 2017
0 Communities
1 Members
0 Resources
14 MeSH Terms
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG
(2012) Hum Mutat 33: 165-79
MeSH Terms: Abnormalities, Multiple, Child, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 10, DNA Copy Number Variations, Developmental Disabilities, Female, Genetic Variation, Homologous Recombination, Humans, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability, Male, Nerve Growth Factors, Oligonucleotide Array Sequence Analysis, Penetrance, Segmental Duplications, Genomic, Sequence Deletion, Vesicular Acetylcholine Transport Proteins
Added March 27, 2014
0 Communities
1 Members
0 Resources
22 MeSH Terms
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC
(2011) Am J Med Genet A 155A: 1314-21
MeSH Terms: Abnormalities, Multiple, Animals, Base Sequence, Chromosomes, Human, Pair 1, Cleft Lip, Cleft Palate, Cloning, Molecular, Computational Biology, Cysts, DNA, Complementary, Gene Expression Regulation, Humans, In Situ Hybridization, Interferon Regulatory Factors, Lip, Mice, Microarray Analysis, Microtubule-Associated Proteins, Molecular Sequence Data, Mutation, Missense, Proteins, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA
Added May 30, 2014
0 Communities
1 Members
0 Resources
23 MeSH Terms
Congenital laryngeal webs: surgical course and outcomes.
Goudy S, Bauman N, Manaligod J, Smith RJ
(2010) Ann Otol Rhinol Laryngol 119: 704-6
MeSH Terms: Abnormalities, Multiple, Child, Preschool, Humans, Infant, Infant, Newborn, Laryngoscopy, Larynx, Retrospective Studies, Tracheotomy, Treatment Outcome
Added May 30, 2014
0 Communities
1 Members
0 Resources
10 MeSH Terms
Complete superior vena cava obstruction.
Raj SR, Dendy JM, Rottman JN
(2010) J Am Coll Cardiol 55: e139
MeSH Terms: Abnormalities, Multiple, Female, Humans, Imaging, Three-Dimensional, Magnetic Resonance Imaging, Interventional, Pacemaker, Artificial, Phlebography, Risk Assessment, Severity of Illness Index, Subclavian Vein, Superior Vena Cava Syndrome, Treatment Failure
Added December 22, 2010
0 Communities
1 Members
0 Resources
12 MeSH Terms
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.
Doering JE, Kane K, Hsiao YC, Yao C, Shi B, Slowik AD, Dhagat B, Scott DD, Ault JG, Page-McCaw PS, Ferland RJ
(2008) J Comp Neurol 511: 238-56
MeSH Terms: Abnormalities, Multiple, Adaptor Proteins, Signal Transducing, Adaptor Proteins, Vesicular Transport, Animals, Brain, Brain Diseases, Carrier Proteins, Humans, In Situ Hybridization, Mice, Nerve Tissue Proteins, Neurons, Proto-Oncogene Proteins, Syndrome, Tissue Distribution, Zebrafish, Zebrafish Proteins
Added January 7, 2014
0 Communities
1 Members
0 Resources
17 MeSH Terms
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH
(2005) Am J Med Genet A 138: 75-8
MeSH Terms: Abnormalities, Multiple, Argentina, Chile, DNA Mutational Analysis, Family Health, Female, Growth Disorders, Guam, Haplotypes, Humans, Intellectual Disability, Intracellular Signaling Peptides and Proteins, Male, Mutation, Osteochondrodysplasias, Pedigree, Polymorphism, Single Nucleotide, Proteins, Spain, Syndrome
Added June 26, 2013
0 Communities
1 Members
0 Resources
20 MeSH Terms
LIT1 and H19 methylation defects in isolated hemihyperplasia.
Martin RA, Grange DK, Zehnbauer B, Debaun MR
(2005) Am J Med Genet A 134A: 129-31
MeSH Terms: Abnormalities, Multiple, Adolescent, Beckwith-Wiedemann Syndrome, Body Height, Body Weight, Child, Child, Preschool, DNA Methylation, Female, Humans, Infant, Male, Membrane Proteins, Potassium Channels, Voltage-Gated, RNA, Long Noncoding, RNA, Untranslated, Uniparental Disomy
Added November 27, 2013
1 Communities
1 Members
0 Resources
17 MeSH Terms