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Optimized selection of unrelated subjects for whole-genome sequencing studies of rare high-penetrance alleles.
Edwards TL, Li C
(2012) Genet Epidemiol 36: 472-9
MeSH Terms: Algorithms, Alleles, Amish, Case-Control Studies, Computer Simulation, Female, Genome, Genome, Human, Genotype, Humans, Male, Models, Genetic, Models, Statistical, Pedigree, Penetrance, Phylogeny, Research Design, Sequence Analysis, DNA
Added March 5, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL
(2012) Proc Natl Acad Sci U S A 109: 7974-81
MeSH Terms: Autistic Disorder, Carnitine, Chromosomes, Human, X, Cognition, Exons, Gene Deletion, Genes, X-Linked, Humans, Male, Metabolism, Inborn Errors, Mixed Function Oxygenases, Penetrance, Risk Factors, Siblings
Added February 20, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms
Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetrance.
Flynn C, Zheng S, Yan L, Hedges L, Womack B, Fessel J, Cogan J, Austin E, Loyd J, West J, Zhao Z, Hamid R
(2012) Am J Respir Cell Mol Biol 47: 20-7
MeSH Terms: Aged, Bone Morphogenetic Protein Receptors, Type II, Cell Cycle, Familial Primary Pulmonary Hypertension, Female, Gene Expression Profiling, Gene Expression Regulation, Humans, Hypertension, Pulmonary, Lung, Lymphocytes, Male, Mutation, Penetrance, Reactive Oxygen Species, Signal Transduction
Added December 10, 2013
0 Communities
6 Members
0 Resources
16 MeSH Terms
Temperature affects the tripartite interactions between bacteriophage WO, Wolbachia, and cytoplasmic incompatibility.
Bordenstein SR, Bordenstein SR
(2011) PLoS One 6: e29106
MeSH Terms: Animals, Bacteriophages, Colony Count, Microbial, Cytoplasm, Models, Biological, Penetrance, Wasps, Wolbachia
Added October 8, 2015
0 Communities
1 Members
0 Resources
8 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
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K
(2011) Nat Genet 43: 316-20
MeSH Terms: Adult, Aged, Aged, 80 and over, Cardiac Myosins, Case-Control Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Heart Diseases, Heart Rate, Heterozygote, Humans, Iceland, Male, Middle Aged, Mutation, Missense, Myosin Heavy Chains, Odds Ratio, Oligonucleotide Array Sequence Analysis, Penetrance, Polymorphism, Single Nucleotide, Sick Sinus Syndrome
Added June 26, 2014
0 Communities
1 Members
0 Resources
23 MeSH Terms
Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling.
Nie X, Brown CB, Wang Q, Jiao K
(2011) Cells Tissues Organs 193: 393-403
MeSH Terms: Animals, Aorta, Thoracic, Apoptosis, Arteries, Biomarkers, Bone Morphogenetic Protein 4, Branchial Region, Cardiovascular Abnormalities, Cardiovascular System, Cell Proliferation, DiGeorge Syndrome, Embryo, Mammalian, Embryonic Development, Gene Expression Regulation, Developmental, Gene Silencing, Humans, Integrases, Mice, Penetrance, Phenotype, T-Box Domain Proteins
Added February 19, 2015
0 Communities
1 Members
0 Resources
21 MeSH Terms
Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting.
Rosa-Rosa JM, Gracia-Aznárez FJ, Hodges E, Pita G, Rooks M, Xuan Z, Bhattacharjee A, Brizuela L, Silva JM, Hannon GJ, Benitez J
(2010) PLoS One 5: e9976
MeSH Terms: Breast Neoplasms, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 6, Family Health, Female, Genetic Linkage, Genetic Predisposition to Disease, Genetic Variation, Humans, Penetrance, Polymorphism, Single Nucleotide, Sequence Analysis, DNA
Added February 15, 2016
0 Communities
1 Members
0 Resources
12 MeSH Terms
Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases.
Shervais S, Kramer PL, Westaway SK, Cox NJ, Zwick M
(2010) Stat Appl Genet Mol Biol 9: Article18
MeSH Terms: Algorithms, Bayes Theorem, Biostatistics, Case-Control Studies, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 2, Computer Simulation, Databases, Genetic, Diabetes Mellitus, Type 2, Disease, Epistasis, Genetic, Genes, Genomics, Humans, Inheritance Patterns, Linear Models, Logistic Models, Models, Genetic, Models, Statistical, Penetrance, Polymorphism, Single Nucleotide
Added February 22, 2016
0 Communities
1 Members
0 Resources
21 MeSH Terms
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.
Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA, Newman JH, Loyd JE
(2009) Hum Mutat 30: 649-54
MeSH Terms: Alleles, Blotting, Western, Bone Morphogenetic Protein Receptors, Type II, Cell Line, Transformed, Family Health, Gene Expression, Genotype, Humans, Hypertension, Pulmonary, Mutation, Penetrance, Reverse Transcriptase Polymerase Chain Reaction
Added March 5, 2014
0 Communities
3 Members
0 Resources
12 MeSH Terms