Research Topics
Genomes and Genes
| Nicholas J SchorkSummaryAffiliation: The Scripps Research Institute Country: USA Publications
Research Grants
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Detail Information
Publications
Identification of EpCAM as the gene for congenital tufting enteropathyMamata Sivagnanam
Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA
Gastroenterology 135:429-37. 2008..The pathogenesis and genetics of this disorder are not well understood. The objective of this study was to identify the gene responsible for CTE...- Common vs. rare allele hypotheses for complex diseasesNicholas J Schork
Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States
Curr Opin Genet Dev 19:212-9. 2009..Both hypotheses have their place in current research efforts... - Strategies and methods to study sex differences in cardiovascular structure and function: a guide for basic scientistsVirginia M Miller
Departments of Surgery, Physiology and Biomedical Engineering, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA
Biol Sex Differ 2:14. 2011..abstract:.. - Gene expression profiling of human whole blood samples with the Illumina WG-DASL assayMary E Winn
Scripps Genomic Medicine and Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA
BMC Genomics 12:412. 2011..We assessed the utility of the whole genome DASL assay in an analysis of peripheral whole blood gene expression profiles... - Association of genetic variants on 15q12 with cortical thickness and cognition in schizophreniaTrygve E Bakken
The Scripps Research Institute, Scripps Translational Science Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA
Arch Gen Psychiatry 68:781-90. 2011..Identifying genes that contribute to variation in cortical thickness provides a means to elucidate some of the biological mechanisms underlying these diseases and general cognitive abilities... - Genotype-based risk and pharmacogenetic sampling in clinical trialsNicholas J Schork
Scripps Translational Science Institute and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA
J Biopharm Stat 20:315-33. 2010..In addition, we also derive realistic bounds for samples sizes for clinical trials investigating pharmacogenetic effects that leverage genetic variations identified in recent association studies... - Natural variation within the neuronal nicotinic acetylcholine receptor cluster on human chromosome 15q24: influence on heritable autonomic traits in twin pairsBrinda K Rana
Departments of Psychiatry, University of California at San Diego, La Jolla, California 92093 0657, USA
J Pharmacol Exp Ther 331:419-28. 2009..These cellular events suggest a homeostatic mechanism underlying the pleiotropic actions of CHRNA3 genetic variation on autonomic function observed in twins... - Chromogranin A polymorphisms are associated with hypertensive renal diseaseRany M Salem
Department of Medicine and Center for Molecular Genetics, University of California at San Diego and Veterans Administration San Diego Healthcare System 0838, 9500 Gilman Drive, La Jolla, CA 92093 0838, USA
J Am Soc Nephrol 19:600-14. 2008..In summary, common variants in chromogranin A associate with the risk of hypertensive ESRD in blacks... - G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactionsVibha Bhatnagar
Deparment of Family and Preventive Medicine, University of California San Diego, La Jolla, California, USA
Am J Hypertens 22:332-8. 2009..This study explores the association between G-protein-coupled receptor kinase type 4 (GRK4) variants and blood pressure response to metoprolol among African Americans with early hypertensive nephrosclerosis... - Adrenergic polymorphism and the human stress responseFangwen Rao
Department of Medicine, University of California at San Diego, La Jolla, California 92093 0838, USA
Ann N Y Acad Sci 1148:282-96. 2008..The results suggest novel pathophysiological links between a key adrenergic locus, catecholamine metabolism, and blood pressure, and suggest new strategies to approach the mechanism, diagnosis, and treatment of systemic hypertension... - A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populationsAlexander H Joyner
Scripps Translational Science Institute, 3344 North Torrey Pines Court, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 106:15483-8. 2009..Secondary analysis showed that this allele was also associated with reduced surface area in specific cortical regions (cuneus, fusiform gyrus, pars triangularis) in both populations... - Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humansMaple M Fung
Department of Medicine, Division of Nephrology Hypertension, University of California at San Diego, 9500 Gilman Dr, La Jolla, CA 92093 0838, USA
Circulation 117:517-25. 2008..Catecholamines govern stress blood pressure responses. Catecholaminergic responses may be partially genetic and contribute to the complex heritability of hypertension... 
Initial heritability analyses of endophenotypic measures for schizophrenia: the consortium on the genetics of schizophreniaTiffany A Greenwood
Department of Psychiatry, University of California San Diego, La Jolla, USA
Arch Gen Psychiatry 64:1242-50. 2007..Exploration of the genetic architecture of specific endophenotypes may be a powerful strategy for understanding the genetic basis of schizophrenia...- Accurate detection and genotyping of SNPs utilizing population sequencing dataVikas Bansal
Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA
Genome Res 20:537-45. 2010..Collectively, these results suggest that analysis of population sequencing data is a powerful approach for the accurate detection of SNPs and the assignment of genotypes to individual samples... - Human dopamine beta-hydroxylase (DBH) regulatory polymorphism that influences enzymatic activity, autonomic function, and blood pressureYuqing Chen
Department of Medicine, University of California at San Diego, La Jolla, California 92093 0838, USA
J Hypertens 28:76-86. 2010..Here we systematically investigated DBH polymorphisms associated with enzymatic activity as well as autonomic and blood pressure (BP)/disease phenotypes in vivo... - Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosisMaple M Fung
Department of Medicine, University of California, San Diego, and San Diego Veterans Affairs Healthcare System, La Jolla, CA, USA
Nephrol Dial Transplant 24:3677-86. 2009..End-stage renal disease (ESRD) due to hypertension is common and displays familial aggregation in African Americans, suggesting genetic risk factors, including adrenergic activity alterations which are noted in both hypertension and ESRD... 
Neuropeptide Y (NPY): genetic variation in the human promoter alters glucocorticoid signaling, yielding increased NPY secretion and stress responsesKuixing Zhang
Department of Medicine and Institute for Genomic Medicine, University of California at San Diego, San Diego, California, USA
J Am Coll Cardiol 60:1678-89. 2012..This study sought to understand whether genetic variation at the Neuropeptide Y (NPY) locus governs secretion and stress responses in vivo as well as NPY gene expression in sympathochromaffin cells...- Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature agesMaggie L Chow
Department of Neuroscience, NIH UCSD Autism Center of Excellence, School of Medicine, University of California San Diego, La Jolla, California, United States of America
PLoS Genet 8:e1002592. 2012..Our results raise the hypothesis that genetic dysregulation in the developing brain leads to abnormal regional patterning, excess prefrontal neurons, cortical overgrowth, and neural dysfunction in autism... - Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trialVibha Bhatnagar
University of California San Diego, La Jolla, USA
J Hypertens 25:2082-92. 2007..It has yet to be determined whether genotyping at the angiotensin-converting enzyme (ACE) locus is predictive of blood pressure response to an ACE inhibitor... - A covering method for detecting genetic associations between rare variants and common phenotypesGaurav Bhatia
Department of Computer Science and Engineering, University of California San Diego, La Jolla, California, USA
PLoS Comput Biol 6:e1000954. 2010..The data suggests that the RVs help disrupt the expression of the two genes, leading to lowered metabolism of the corresponding cannabinoids. Overall, our results point to the power of including RVs in measuring genetic associations... - Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of SchizophreniaTiffany A Greenwood
Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093 0804, USA
Am J Psychiatry 168:930-46. 2011.... - Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC)Maple M Fung
Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA
Nephrol Dial Transplant 27:197-205. 2012..Here, we evaluated the influence of MTHFR variants on progressive loss of kidney function... - Comparison of genetic distance measures using human SNP genotype dataOndrej Libiger
Scripps Translational Science Institute, Scripps Health, and Scripps Research Institute, La Jolla, CA, USA
Hum Biol 81:389-406. 2009..Finally, our study suggests that using the Cavalli-Sforza and Edwards distance may provide less power for studies concerning human migration history... - Statistical genetics concepts and approaches in schizophrenia and related neuropsychiatric researchNicholas J Schork
Department of Psychiatry, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0603, USA
Schizophr Bull 33:95-104. 2007..We also provide a discussion of the most pressing contemporary problems that demand further research if progress is to be made in the identification of genes and genetic variations that predispose to complex neuropsychiatric diseases... - COMT polymorphisms and anxiety-related personality traitsMurray B Stein
Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093 0985, USA
Neuropsychopharmacology 30:2092-102. 2005..Other functional variants may exist that contribute to this relationship. Possible sex-specific effects remain to be further studied and explained... - Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorderCaroline M Nievergelt
Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0603, USA
Am J Med Genet B Neuropsychiatr Genet 141:234-41. 2006..However, the trends for ARNTL and PER3 are suggestive of their involvement in bipolar disorder and warrant further study in a larger sample... - Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphismFangwen Rao
Department of Medicine, Center for Human Genetics and Genomics, University of California at San Diego, La Jolla, CA 92093 0838, USA
Hypertension 49:1015-31. 2007..Such functional links between adrenergic activity and glomerular injury suggest novel approaches to its prediction, prevention, diagnosis, and treatment... - An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertensionGen Wen
Department of Medicine, Moores UCSD Cancer Center, University of California, San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093, USA
Hum Mol Genet 16:1752-64. 2007..These results identify a common regulatory variation in SCG2 and implicate granin gene expression in the control of human blood pressure and susceptibility to hypertension... - Biogenesis of the secretory granule: chromogranin A coiled-coil structure results in unusual physical properties and suggests a mechanism for granule core condensationColeman A Mosley
Bioinformatics Graduate Program, University of California at San Diego, La Jolla, CA 92093 0838, USA
Biochemistry 46:10999-1012. 2007..These results suggest new roles for secretory protein tertiary structure in hormone and transmitter storage, with implications for secretory cargo condensation (or dense core "packing" structure) within the regulated pathway... - A simulation-based analysis of chromosome segment sharing among a group of arbitrarily related individualsOndrej Libiger
1 1Scripps Genomic Medicine, Scripps Health, La Jolla, CA, USA
Eur J Hum Genet 15:1260-8. 2007..We present results that showcase possible application of assessing genomic sharing in gene mapping and apply our analysis to data available from published gene mapping studies... - Population-based sample reveals gene-gender interactions in blood pressure in White AmericansBrinda K Rana
Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA
Hypertension 49:96-106. 2007..Such genetic variants may define genetically and etiologically distinct subgroups of men and women with essential hypertension and may have implications for rational treatment selection... - Powerful designs for genetic association studies that consider twins and sibling pairs with discordant genotypesJennifer Wessel
Center for Human Genetics and Genomics, University of California San Diego, La Jolla, CA, USA
Genet Epidemiol 31:789-96. 2007.... - DNA variation and brain region-specific expression profiles exhibit different relationships between inbred mouse strains: implications for eQTL mapping studiesIiris Hovatta
The Salk Institute for Biological Studies, Laboratory of Genetics, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
Genome Biol 8:R25. 2007.... - Human genetic variation and its contribution to complex traitsKelly A Frazer
Scripps Genomic Medicine, Scripps Translational Science Institute and The Scripps Research Institute, La Jolla, California 92037, USA
Nat Rev Genet 10:241-51. 2009..Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress... - Influence of genetic polymorphisms on the effect of high- and standard-dose clopidogrel after percutaneous coronary intervention: the GIFT (Genotype Information and Functional Testing) studyMatthew J Price
Division of Cardiovascular Diseases, Scripps Clinic, La Jolla, California 92037, USA
J Am Coll Cardiol 59:1928-37. 2012..This study sought to evaluate the influence of single nucleotide polymorphisms (SNPs) on the pharmacodynamic effect of high- or standard-dose clopidogrel after percutaneous coronary intervention (PCI)... - Evaluation of next generation sequencing platforms for population targeted sequencing studiesOlivier Harismendy
Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA
Genome Biol 10:R32. 2009..To evaluate these platforms for this application, we analyzed human sequence generated by the Roche 454, Illumina GA, and the ABI SOLiD technologies for the same 260 kb in four individuals... - The relative importance of genetics and environment on mammographic densityGiske Ursin
Department of Preventive Medicine, University of Southern California Keck School of Medicine, Norris Comprehensive Cancer Center, Los Angeles, California, USA
Cancer Epidemiol Biomarkers Prev 18:102-12. 2009..We investigated whether part of the presumed heritability might be attributed to differential sharing of modifiable risk factors in monozygotic (MZ) and dizygotic (DZ) twins... - Deconstructing schizophrenia: an overview of the use of endophenotypes in order to understand a complex disorderDavid L Braff
Department of Psychiatry, University of California San Diego, 9500 Gilman Drive, Mail Code 0804, La Jolla, CA 92093, USA
Schizophr Bull 33:21-32. 2007..The endophenotype strategy offers powerful and exciting opportunities to understand the genetically conferred neurobiological vulnerabilities and possible new strong inference and molecularly based treatments for schizophrenia... - Identification of quantitative trait Loci for anxiety and locomotion phenotypes in rat recombinant inbred strainsLisa H Conti
Department of Pharmacology, 0636, University of California, San Diego, La Jolla, California, USA
Behav Genet 34:93-103. 2004..For a phenotype reflecting both anxiety and locomotion, QTL were found on chromosomes 2, 7, and 8, while for a locomotion phenotype, significant QTL were found on chromosomes 3 and 18... - Statistical analysis strategies for association studies involving rare variantsVikas Bansal
The Scripps Translational Science Institute, 3344 North Torrey Pines Court, Suite 300, La Jolla, California 92037, USA
Nat Rev Genet 11:773-85. 2010..Ultimately, although a wide variety of analytical approaches exist, more work is needed to refine them and determine their properties and power in different contexts... - Pathway analysis of seven common diseases assessed by genome-wide associationAli Torkamani
Scripps Genomic Medicine, The Scripps Translational Science Institute, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
Genomics 92:265-72. 2008..Additionally, we analyze the genetic relationships between the seven diseases, and based upon similarities with respect to the associated genes and pathways affected in each, propose a new way of categorizing the diseases... - Human haplotype block sizes are negatively correlated with recombination ratesTiffany A Greenwood
Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla, California 92093, USA
Genome Res 14:1358-61. 2004..We discuss the potential implications of this negative correlation in the context of the organization, properties, and potential ubiquity of a block-like structure in the human genome... - Mechanisms underlying hypoxia tolerance in Drosophila melanogaster: hairy as a metabolic switchDan Zhou
Department of Pediatrics, University of California San Diego, La Jolla, California, United States of America
PLoS Genet 4:e1000221. 2008.... - Simulation-based homozygosity mapping with the GAW14 COGA dataset on alcoholismOndrej Libiger
Polymorphism Research Laboratory, Department of Psychiatry, The University of California, San Diego, La Jolla, California 92093 0603, USA
BMC Genet 6:S35. 2005..Our assessment of sharing involved the use of a single-nucleotide polymorphism (SNP) marker map provided by Affymetrix... - Gene-by-environment (serotonin transporter and childhood maltreatment) interaction for anxiety sensitivity, an intermediate phenotype for anxiety disordersMurray B Stein
Anxiety and Traumatic Stress Disorders Program, Departments of Psychiatry and Family and Preventive Medicine, University of California San Diego, La Jolla, CA 92093 0855, USA
Neuropsychopharmacology 33:312-9. 2008..These findings are consistent with the notion that 5-HTTLPR operates broadly to moderate emotional responsivity to stress... - Comprehensive linkage and linkage heterogeneity analysis of 4344 sibling pairs affected with hypertension from the Family Blood Pressure ProgramTiffany A Greenwood
Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0603, USA
Genet Epidemiol 31:195-210. 2007..Ultimately our results suggest that evidence for linkage heterogeneity can only be detected with large sample sizes, such as the FBPP, which is consistent with theoretical sample size calculations... - Detecting genetic variation in microarray expression dataJennifer A Greenhall
The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
Genome Res 17:1228-35. 2007..This approach enables the opportunistic extraction of genetic variation information from new or pre-existing gene expression data obtained with high-density oligonucleotide arrays... - Generalized genomic distance-based regression methodology for multilocus association analysisJennifer Wessel
Polymorphism Research Laboratory, Department of Psychiatry, Divisions of Epidemiology, Center for Human Genetics and Genomics, University of California at San Diego, La Jolla, CA 92093-0603, USA
Am J Hum Genet 79:792-806. 2006.... - Accommodating linkage disequilibrium in genetic-association analyses via ridge regressionNathalie Malo
Department of Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
Am J Hum Genet 82:375-85. 2008..We showcase the method by using both simulated and real data. Our results suggest that ridge regression and related techniques have the potential to distinguish causative from noncausative variations in association studies... - The importance of phase information for human genomicsRyan Tewhey
The Scripps Translational Science Institute, 3344 North Torrey Pines Road, Suite 300, La Jolla, California 92037, USA
Nat Rev Genet 12:215-23. 2011..Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential... - Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophreniaAli Torkamani
Scripps Translational Science Institute, La Jolla, California 92037, USA
Genome Res 20:403-12. 2010..These findings provide a novel mechanism for the "developmental" hypothesis of schizophrenia on a molecular level... - Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humansTrygve E Bakken
Medical Scientist Training Program, University of California at San Diego, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 109:3985-90. 2012..We suggest that identifying genes that contribute to normal cortical architecture provides a first step to understanding genetic mechanisms that underlie visual perception... - The effects of globin on microarray-based gene expression analysis of mouse bloodMary E Winn
Graduate Program in Biomedical Sciences, Department of Medicine, University of California at San Diego, La Jolla, CA 92093, USA
Mamm Genome 21:268-75. 2010.... - Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samplesMaggie L Chow
Department of Neuroscience, NIH UCSD Autism Center of Excellence, School of Medicine, University of California San Diego, 8110 La Jolla Shores Dr Ste 201, La Jolla, CA 92093, USA
BMC Genomics 12:449. 2011.... - Generalized analysis of molecular varianceCaroline M Nievergelt
Department of Psychiatry, University of California at San Diego, La Jolla, California, United States of America
PLoS Genet 3:e51. 2007.... - Accurate prediction of deleterious protein kinase polymorphismsAli Torkamani
Department of Medicine, Center for Human Genetics and Genomics, The Scripps Research Institute, University of California, San Diego, La Jolla, CA 92093, USA
Bioinformatics 23:2918-25. 2007..We provide a ranked list of common kinase nsSNPs that have a higher probability of impacting human disease based on our analyses... - Accommodating pathway information in expression quantitative trait locus analysisJennifer Wessel
Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA
Genomics 90:132-42. 2007..We apply available genetic network and pathway analysis software, as well as a novel regression analysis technique, to carry out the proposed studies. We also consider extensions of the proposed strategies and areas of future research... - DNA sequence-based phenotypic association analysisNicholas J Schork
Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA
Adv Genet 60:195-217. 2008..Ultimately, we show that the procedure has promise and argue that consideration of DNA sequence-based association data should usher in a new era in genetic association study designs and methodologies... - Noncoding transcription within the Igh distal V(H) region at PAIR elements affects the 3D structure of the Igh locus in pro-B cellsJiyoti Verma-Gaur
Department of Immunology and Microbial Science, The Scripps Research Institute, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 109:17004-9. 2012..Therefore, we hypothesize that one key role of noncoding germ-line transcription is to facilitate locus compaction, allowing distal V(H) genes to undergo efficient rearrangement... - Direct-to-consumer personalized genomic testingCinnamon S Bloss
Scripps Genomic Medicine, Scripps Health, Scripps Translational Science Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA
Hum Mol Genet 20:R132-41. 2011..Either way, however, current knowledge needs to be extended and enhanced with respect to the delivery, impact and use of increasingly accurate and comprehensive individualized genomic data... - Effect of direct-to-consumer genomewide profiling to assess disease riskCinnamon S Bloss
Scripps Genomic Medicine, Scripps Translational Science Institute, and Scripps Health, La Jolla, CA 92037, USA
N Engl J Med 364:524-34. 2011..We examined the psychological, behavioral, and clinical effects of risk scanning with the Navigenics Health Compass, a commercially available test of uncertain clinical validity and utility... - Gene expression in mouse brain following chronic hypoxia: role of sarcospan in glial cell deathDan Zhou
Department of Pediatrics Section of Respiratory Medicine and Neuroscience, University of California San Diego, La Jolla, CA 92093 0735, USA
Physiol Genomics 32:370-9. 2008..We conclude that CIH or CCH induced significant and distinguishable alterations in gene expression in cortex and hippocampus and that Sspn seems to play a critical role in inducing cell death under hypoxic conditions... - Predicting functional regulatory polymorphismsAli Torkamani
Department of Molecular and Experimental Medicine, Scripps Genomic Medicine and the Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA
Bioinformatics 24:1787-92. 2008.... - Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genesErin N Smith
Scripps Genomic Medicine and Scripps Translational Science Institute, La Jolla, California, United States of America
PLoS Genet 7:e1002134. 2011.... - Multicenter validation of the diagnostic accuracy of a blood-based gene expression test for assessing obstructive coronary artery disease in nondiabetic patientsSteven Rosenberg
CardioDx, Palo Alto, California, USA
Ann Intern Med 153:425-34. 2010..Previous studies have suggested that peripheral blood gene expression can indicate the presence of CAD... - Admixture mapping as a gene discovery approach for complex human traits and diseasesCaroline M Nievergelt
Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, 2050 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093 0603, USA
Curr Hypertens Rep 7:31-7. 2005..We conclude that AM has potential in the identification of disease-predisposing loci, but this potential may only exist in a limited number of realistic settings... - Human response to alpha2-adrenergic agonist stimulation studied in an isolated vascular bed in vivo: Biphasic influence of dose, age, gender, and receptor genotypeDanuta King
Department of Medicine and Center for Molecular Genetics 0838, University of California at San Diego, and VA San Diego Healthcare System, 9500 Gilman Dr, La Jolla, CA 92093 0838, USA
Clin Pharmacol Ther 77:388-403. 2005.... - Pleiotropic effects of novel trans-acting loci influencing human sympathochromaffin secretionTiffany A Greenwood
Department of Medicine, University of California-San Diego, La Jolla, USA
Physiol Genomics 25:470-9. 2006..The results suggest a new approach to heritable autonomic control of circulation and the genetic basis of cardiovascular diseases such as systemic hypertension... - Advances in endophenotyping schizophreniaDavid L Braff
Department of Psychiatry, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0804, USA
World Psychiatry 7:11-8. 2008..By identifying the single nucleotide polymorphisms (SNPs) associated with endophenotypes in schizophrenia, psychiatric neuroscientists can select new strong inference based molecular targets for the treatment of schizophrenia... - CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cellsStephanie C Degner
Department of Immunology and Microbial Science, The Scripps Research Institute, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 108:9566-71. 2011..Together, our findings demonstrate that CTCF plays an important role in the 3D structure of the Igh locus and in the regulation of antisense germline transcription and that it contributes to the compaction of the Igh locus... - Large-scale integration of human genetic and physical mapsCaroline M Nievergelt
Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla, California 92093-0603, USA
Genome Res 14:1199-205. 2004..Our efforts resulted in updated sex-specific genetic maps... - Power calculations for genetic association studies using estimated probability distributionsNicholas J Schork
Department of Psychiatry, University of California at San Diego, 2062 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093, USA
Am J Hum Genet 70:1480-9. 2002.... - Identification of rare cancer driver mutations by network reconstructionAli Torkamani
The Scripps Translational Science Institute and Scripps Genomic Medicine, Scripps Health and The Scripps Research Institute, La Jolla, California 92037, USA
Genome Res 19:1570-8. 2009.... - Evaluation of linkage disequilibrium between chromosome 22q11 single nucleotide polymorphisms in a large outbred populationSarah H Shaw
Axys Pharmaceuticals Inc, La Jolla, California, USA
Am J Med Genet 114:205-13. 2002..30. Finally, we observed a 60 kb region with non-significant LD, which could reflect increased recombination in this region... - Efficient and cost effective population resequencing by pooling and in-solution hybridizationVikas Bansal
Scripps Genomic Medicine, Scripps Translational Science Institute, La Jolla, California, United States of America
PLoS ONE 6:e18353. 2011..6% of variants below 5% in frequency. Finally, allele frequencies for single nucleotide variants (SNVs) estimated from the pooled data and the HapMap genotype data were tightly correlated (correlation coefficient > = 0.995)... - Prestige centrality-based functional outlier detection in gene expression analysisAli Torkamani
The Scripps Translational Science Institute and Scripps Genomic Medicine, Scripps Health and The Scripps Research Institute, 3344 North Torrey Pines Court, Room 306 La Jolla, CA 92037 USA
Bioinformatics 25:2222-8. 2009..The power of this method is demonstrated by its ability to enrich for distant metastasis related genes derived from noisy expression data of CD44+CD24-/low tumor initiating cells... - Contemporary human genetic strategies in aging researchCinnamon S Bloss
Scripps Translational Science Institute and Scripps Health, La Jolla, CA 92037, USA
Ageing Res Rev 10:191-200. 2011.... - Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene diseaseMiguel L Soares
Department of Molecular and Experimental Medicine, Division of Rheumatology Research and the WM Keck Autoimmune Disease Center, The Scripps Research Institute, La Jolla, CA 92037, USA
Hum Mol Genet 14:543-53. 2005..Thus, although the TTR V30M mutation is required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation... - Multivariate regression analysis of distance matrices for testing associations between gene expression patterns and related variablesMatthew A Zapala
Biomedical Sciences Graduate Program and the Polymorphism Research Laboratory, Department of Psychiatry, Moores UCSD Cancer Center, Center for Human Genetics and Genomics, University of California at San Diego, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 103:19430-5. 2006..We showcase the methodology using three published gene expression data sets... - A polymorphism of the beta1-adrenergic receptor is associated with low extraversionMurray B Stein
Department of Psychiatry, University of California San Diego, San Diego, California, USA
Biol Psychiatry 56:217-24. 2004..We examined the possibility that allelic variation leading to alterations in beta(1)-adrenergic function might be present in persons with elevated social anxiety-related traits... - Distribution analysis of nonsynonymous polymorphisms within the human kinase gene familyAli Torkamani
Graduate Program in Biomedical Sciences, Department of Medicine, University of California at San Diego, La Jolla, CA 92093, USA
Genomics 90:49-58. 2007..Our results provide insights into the sequence and structural phenomena associated with naturally occurring kinase nscSNPs that contribute to human diseases... - A new framework marker-based linkage map and SDPs for the rat HXB/BXH strain setMartin Jirout
Department of Pharmacology 0636, University of California San Diego, La Jolla, California 92093 0636, USA
Mamm Genome 14:537-46. 2003..The new genotypic information obtained also permitted further genetic characterization of the RI strain set including strain independence, genetic similarity among the individual strains, and non-syntenic associations between loci...
Research Grants
- FAMILY BLOOD PRESSURE PROGRAMNicholas Schork; Fiscal Year: 2004..The resulting synthesis of ideas and amassed data permits rigorous hypothesis testing not otherwise possible and will hasten understanding of the previously elusive genetic variation responsible for disease risk. ..