Research Topics
Genomes and Genes | Aravinda ChakravartiSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Publications
Massively parallel rare disease geneticsKathleen H Burns
Department of Pathology, Johns Hopkins University School of Medicine, Ross Building Room 524, 720 Rutland Avenue, Baltimore, MD 21205, USA
Genome Med 3:29. 2011..A report on the 'Genomic Disorders 2011 - The Genomics of Rare Diseases' meeting, Wellcome Trust Sanger Institute, Hinxton, UK, 23-26 March 2011...- Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure ProgramJason M Laramie
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
BMC Med Genet 7:17. 2006..Previous family studies have shown a significant heritable component to heart rate with several groups conducting genomic linkage scans to identify quantitative trait loci... - A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibilityAravinda Chakravarti
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Proc Natl Acad Sci U S A 99:4755-6. 2002 
Obituary: Victor Almon McKusick (1921-2008)Aravinda Chakravarti
Aravinda Chakravarti is at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21093, USA
Nature 455:46. 2008- Nature, nurture and human diseaseAravinda Chakravarti
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Jefferson Street Building, 2 109, Baltimore, Maryland 21287, USA
Nature 421:412-4. 2003..We argue here that the environment exerts its influence at the DNA level and so will need to be understood before the underlying causal factors of common human diseases can be fully recognized... - Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityEileen Sproat Emison
Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 87:60-74. 2010..The RET allelic series, and its genotype-phenotype correlations, shows that success in variant identification in complex disorders may strongly depend on which patients are studied... - Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studiesKhanh Dung H Nguyen
Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Circ Res 112:318-26. 2013..Hypertension affects ≈30% of adults in industrialized countries and is the major risk factor for cardiovascular disease... - Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic populationDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 4:e4333. 2009..These results highlight the consistent and complex role of NOS1AP genetic variants in modulating QT interval... - Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrestDan E Arking
Center for Complex Diseases Genomics, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 5:e9879. 2010..We performed a GWAS to identify genetic determinants of SCA... - Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populationsW H Linda Kao
Department of Epidemiology, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21205, USA
Circulation 119:940-51. 2009.... - Population bottlenecks as a potential major shaping force of human genome architectureAdrian Gherman
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
PLoS Genet 3:e119. 2007.... - Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order AmishWendy Post
Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
Hum Hered 64:214-9. 2007..The purpose of the current study was to replicate this association in the Old Order Amish... - Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet studyGeorg B Ehret
Center for Complex Diseases Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Eur J Hum Genet 17:1650-7. 2009..The failure to identify common variants is either because of low statistical power or the existence of rare coding variants in specific families or both, which require additional studies to clarify... - Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencerQian Jiang
Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Hum Mutat 33:281-9. 2012..We identified five missense mutations in these three genes that may potentially be involved in the pathogenesis of HSCR and need to be studied in larger patient samples... - Polymorphisms in the mitochondrial DNA control region and frailty in older adultsAnn Z Moore
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
PLoS ONE 5:e11069. 2010..Mitochondrial genetic variation may contribute to altered susceptibility to the frailty syndrome in older adults... - Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequenceCarl S Kashuk
McKusick Nathans Institute of Genetic Medicine and Department of Comparative Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 102:8949-54. 2005.... - A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autismDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 82:160-4. 2008..Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism... - Estimating genome-wide copy number using allele-specific mixture modelsWenyi Wang
Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
J Comput Biol 15:857-66. 2008..Software to implement this procedure will be available in the Bioconductor oligo package (www.bioconductor.org)... - Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarraysShin Lin
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, N Broadway, Baltimore, MD 21205, USA
Genome Biol 9:R63. 2008..Also, we tie our call confidence metric to percent accuracy. We intend that our validation datasets and methods, refered to as SNPaffycomp, serve as standard benchmarks for future SNP calling algorithms... - Exploring biologically relevant pathways in frailtyYen Yi Ho
Division of Geriatric Medicine and Gerontology, Johns Hopkins University School of Medicine, 5505 Bayview Circle, Baltimore, MD 21224, USA
J Gerontol A Biol Sci Med Sci 66:975-9. 2011..As with longevity research, genetic analyses may help to provide insights into biologically relevant pathways that contribute to frailty... - From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility geneYing Wang
Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Proc Natl Acad Sci U S A 106:226-31. 2009..Thus, variants in STK39 may influence BP by increasing STK39 expression and consequently altering renal Na(+) excretion, thus unifying rare and common BP-regulating alleles in the same physiological pathway... - A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease riskEileen Sproat Emison
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nature 434:857-63. 2005..Thus, common low-penetrance variants, identified by association studies, can underlie both common and rare diseases... 
Understanding cardiovascular disease through the lens of genome-wide association studiesDan E Arking
Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Trends Genet 25:387-94. 2009..Although GWAS face several technical challenges, including the potential for both false-positive and false-negative findings, they are starting to provide a unique view of the genetic architecture of a common disease...- A multilevel model to address batch effects in copy number estimation using SNP arraysRobert B Scharpf
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Biostatistics 12:33-50. 2011..The software is open source and implemented in the R package crlmm at Bioconductor (http:www.bioconductor.org)... - Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancerElizabeth A Grice
McKusick Nathans Institute of Genetic Medicine, Department of Comparative Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Hum Mol Genet 14:3837-45. 2005..Importantly, this sequence also modulates expression in the enteric nervous system consistent with its proposed role in HSCR... - Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individualsDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS Genet 7:e1002158. 2011..Consistent with epidemiological studies showing increased risk of SCD with prolonged QRS/QT intervals, the interval-prolonging alleles are in aggregate associated with increased risk for SCD (P = 0.006)... - Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defectsDavid A Dezentje
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Cancer Biol Ther 8:347-55. 2009..Fusing CIN cell lines to form mapped hybrids offers new tools for positional cloning or classification of simple and complex cancer phenotypes, including mechanical defects and altered drug responses... - Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease associationStacey Arnold
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Hum Mutat 30:771-5. 2009..This is the first report of a genetic interaction between a common functional variant (rs2435357) and a not infrequent copy number error (chromosome 21 dosage) in two human developmental disorders... - Multiple genes for essential-hypertension susceptibility on chromosome 1qYEN PEI CHRISTY CHANG
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 80:253-64. 2007..Because the associated alleles in these genes are relatively common (frequency >5%), these three genes are important contributors to elevated BP in the population at large... - Variation in the ciliary neurotrophic factor gene and muscle strength in older Caucasian womenDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N Broadway, Baltimore, MD 21205, USA
J Am Geriatr Soc 54:823-6. 2006..To determine whether genetic variants in the ciliary neurotrophic factor (CNTF) gene are associated with muscle strength in older women... - Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosisScott M Blackman
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21287, USA
Gastroenterology 131:1030-9. 2006..CONCLUSIONS: The CFTR gene along with 2 or more modifier genes are the major determinants of intestinal obstruction in newborn CF patients, whereas intestinal obstruction in older CF patients is caused primarily by nongenetic factors... - Haplotype and missing data inference in nuclear familiesShin Lin
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA
Genome Res 14:1624-32. 2004..Furthermore, our algorithm can estimate allelic status for missing data at high accuracy (>95%). Finally, the input capacity of the program is vast, easily handling thousands of segregating sites in > or = 1000 chromosomes... - Genomics in sudden cardiac deathDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Room 580, Baltimore, MD 21205, USA
Circ Res 94:712-23. 2004..The development of novel strategies to identify contributors to susceptibility in common cardiac phenotypes is most likely to lead to new and relevant therapeutic targets for SCD... - Differential susceptibility to hypertension is due to selection during the out-of-Africa expansionJ Hunter Young
The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS Genet 1:e82. 2005..This differential susceptibility is likely due to our history of adaptation to climate... - Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure ProgramGeorg B Ehret
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Eur J Hum Genet 16:1507-11. 2008..No replication could be shown for hypertension status, but there are differences in study design. This attempted replication highlights that essential hypertension studies will require more comprehensive and larger genetic screens... - Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discoveryAik Choon Tan
The Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland, USA
Cancer Biol Ther 7:135-44. 2008.... - Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arraysEric S Calhoun
Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center at the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutes, Baltimore, MD 21231, USA
Cancer Res 66:7920-8. 2006..This study provides previously unavailable high-resolution allelotype and deletion breakpoint maps in widely shared pancreatic cancer cell lines and effectively eliminates the need for matched normal tissue to define informative loci... - Copy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseQian Jiang
Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 6:e21219. 2011..A much larger study will be necessary both for replication and for identifying the full spectrum of small CNV effects... - Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patternsAdele A Mitchell
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Jefferson Street Building, 2-120, Baltimore, MD 21287, USA
Bioinformatics 20:1022-32. 2004..We conclude that the dbSNP false positive rate is approximately 15-17% and that the reported confirmation studies have vastly different genotyping error rates and patterns... - Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium testAdele A Mitchell
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
Am J Hum Genet 72:598-610. 2003..Therefore, we conclude that undetected genotyping errors may be contributing to an inflated false-positive rate among reported TDT-derived associations and that genotyping fidelity must be increased... - The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detectionAnirban Maitra
Department of Pathology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Genome Res 14:812-9. 2004..The MitoChip is a high-throughput sequencing tool for the reliable identification of mitochondrial DNA mutations from primary tumors in clinical samples... - Quantifying and modeling birth order effects in autismTychele Turner
Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 6:e26418. 2011..A search for genes considering these patterns is likely to increase statistical power and uncover novel molecular etiologies... - Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaMary Armanios
Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 102:15960-4. 2005..This finding emphasizes the importance of telomere maintenance and telomerase dosage for maintaining tissue proliferative capacity and has relevance for understanding mechanisms of age-related changes... - Genomic alterations in cultured human embryonic stem cellsAnirban Maitra
McKusick-Nathans Institute of Genetic Medicine, Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 37:1099-103. 2005.... - On the probability that a novel variant is a disease-causing mutationAdele A Mitchell
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
Genome Res 15:960-6. 2005..Thus, discovery of a variant in a patient and not in a group of controls is, on its own, very weak evidence of involvement with disease... - Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung diseaseMinerva M Carrasquillo
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe St, Jefferson St Bldg, 2 109, Baltimore, Maryland 21287, USA
Nat Genet 32:237-44. 2002..Thus, genetic interaction between mutations in RET and EDNRB is an underlying mechanism for this complex disorder... - A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarizationDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 38:644-51. 2006..Approximately 60% of subjects of European ancestry carry at least one minor allele of the NOS1AP genetic variant, which explains up to 1.5% of QT interval variation... - Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studiesShin Lin
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Broadway Research Building, Suite 475, 733 N. Broadway, Baltimore, Maryland 21205, USA
Nat Genet 36:1181-8. 2004..These results show that the theoretical benefits of genome-wide association studies are at last realizable... - Haplotype inference in random population samplesShin Lin
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Am J Hum Genet 71:1129-37. 2002..2 are analyzed and scored according to the fraction of neighbor relations correctly called, reconstructions are 95.2% accurate over entire 100-kb stretches and are 98.6% accurate within blocks of high LD... - Public stem cell banks: considerations of justice in stem cell research and therapyRuth R Faden
Phoebe R. Berman Bioethics Institute, Johns Hopkins University, USA
Hastings Cent Rep 33:13-27. 2003 - Development of human protein reference database as an initial platform for approaching systems biology in humansSuraj Peri
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
Genome Res 13:2363-71. 2003..hprd.org to the academic community. This unified bioinformatics platform will be useful in cataloging and mining the large number of proteomic interactions and alterations that will be discovered in the postgenomic era... - Safety issues in cell-based intervention trialsLiza Dawson
Phoebe R Berman Bioethics Institute, Johns Hopkins University, Baltimore, Maryland 21205, USA
Fertil Steril 80:1077-85. 2003..We recommend that scientists, policy makers, and the public discuss these issues responsibly, and further, that a national advisory committee to oversee human trials of cell therapies be established... - Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and EdnrbAndrew S McCallion
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 100:1826-31. 2003..Our data demonstrate that interaction between these genes is restricted to the enteric nervous system and does not affect renal, coat color, and retinal choroid development... - ViewGene: a graphical tool for polymorphism visualization and characterizationCarl Kashuk
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Genome Res 12:333-8. 2002..Manipulation, cross-referencing, and haplotype viewing of snp data are essential for quality assessment and identification of variants associated with genetic disease, and viewGene provides all three of these important functions... - An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophreniaSusan L Christian
Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
Genomics 79:635-56. 2002..Overall, integration of the data from multiple sources is still needed for complete assembly of the 13q32-q33 region. (c).. - Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure programXiaofeng Zhu
Department of Preventive Medicine and Epidemiology, Loyola Stritch School of Medicine, Maywood, Illinois 60153, USA
Genome Res 13:173-81. 2003..These findings have implications for candidate-gene association studies and indicate that variation between populations of European and African origin in haplotype diversity is characteristic of most genes... - Erythrocyte sodium-lithium countertransport and blood pressure: a genome-wide linkage studyAlan B Weder
Division of Hypertension, University of Michigan, Ann Arbor, MI 48109, USA
Hypertension 41:842-6. 2003..Further studies confirming the presence of a quantitative trait locus in this region and evaluating these candidate genes may help explain the association of elevated sodium-lithium countertransport and hypertension... - A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African AmericansBonnie A Thiel
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
Am J Hypertens 16:151-3. 2003..0057 and .00023, respectively) was found on chromosome 1. Our results support the idea that BP regulation is most likely governed by multiple genetic loci, each with a relatively weak effect on BP in the population at large... - Associations between hypertension and genes in the renin-angiotensin systemXiaofeng Zhu
Department of Preventive Medicine and Epidemiology, Loyola University Stritch School of Medicine, Maywood, Ill, USA
Hypertension 41:1027-34. 2003..Thus, in this biracial population sample, we find evidence that interindividual variation in the renin-angiotensin system genes contributes to hypertension risk... - Positional identification of hypertension susceptibility genes on chromosome 2Ruth Ann Barkley
Human Genetics Center and Institute of Molecular Medicine, of Texas Health Science Center at Houston, USA
Hypertension 43:477-82. 2004..Moreover, the present study validates previous evidence for one or more genes on chromosome 2 that influence hypertension-related phenotypes in the population-at-large... - A trisomic transmission disequilibrium testZhiying Xu
Department of Biostatistics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA
Genet Epidemiol 26:125-31. 2004..We demonstrate the method on a dataset of parent-child trios in which the child has Down syndrome... - Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traitsAngelo Scuteri
Unità Operativa Geriatria, Istituto per la Patologia Endocrina e Metabolica, Rome, Italy
PLoS Genet 3:e115. 2007..These changes could have a significant impact on the risk of obesity-related morbidity in the general population... - A population association study of angiotensinogen polymorphisms and haplotypes with left ventricular phenotypesLaura J Rasmussen-Torvik
Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN, USA
Hypertension 46:1294-9. 2005..The single SNP association was driven by a large group of SNPs in high linkage disequilibrium that includes the promoter SNP rs5051... - Haplotype association analysis of AGT variants with hypertension-related traits: the HyperGEN studyC Charles Gu
Division of Biostatistics, Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
Hum Hered 60:164-76. 2005..We set out to examine a hypothesis that multiple genetic variants in the system act together in blood pressure regulation, via intermediate phenotypes such as blood pressure reactivity... - Genome-wide detection and characterization of positive selection in human populationsPardis C Sabeti
Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Nature 449:913-8. 2007.... - Segregation analysis of blood pressure and body mass index in a rural US communitySwapan K Nath
Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, USA
Hum Biol 74:11-23. 2002..Our analysis results support the segregation of a major gene for BMI, but not for SBP or DBP. A recessive locus effect provided the best explanation for BMI where approximately 43% of the variance of BMI was due to this gene... - Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr geneBlagoy Blagoev
Protein Interaction Laboratory, Center for Experimental Bioinformatics, University of Southern Denmark, Campusvej 55, M, DK 5230, Odense, Denmark
Gene 284:161-8. 2002..Finally, using linkage analysis, we mapped the murine Tslpr gene to mouse chromosome 5 between the Ecm2 and Pxn genes... - Future of genetics of mood disorders researchKathleen R Merikangas
National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
Biol Psychiatry 52:457-77. 2002..To prepare for shifts to more complex genetic models, the committee recommended that the NIMH develop new interdisciplinary training strategies to prepare for the next generation of genetics research... - Segregation at three loci explains familial and population risk in Hirschsprung diseaseStacey B Gabriel
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
Nat Genet 31:89-93. 2002..This study demonstrates by a complete genetic dissection why the inheritance pattern of S-HSCR is nonmendelian... - Sequence variations in the public human genome data reflect a bottlenecked population historyGabor Marth
National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD 20894, USA
Proc Natl Acad Sci U S A 100:376-81. 2003..The inferred times of collapse and recovery are Upper Paleolithic, in agreement with archaeological evidence of the initial modern human colonization of Europe... - A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depressionSrijan Sen
Neuroscience Program, University of Michigan, Ann Arbor, MI, USA
Neuropsychopharmacology 28:397-401. 2003 - An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP)C Charles Gu
Division of Biostatistics, Washington University School of Medicine, 660 S Euclid Avenue, Campus Box 8067, St Louis, MO 63110, USA
Hum Genet 121:577-90. 2007.... - High incidence of deafness from three frequent connexin 26 mutations in an isolated communityJoel Zlotogora
Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
Genet Test 10:40-3. 2006..4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed... - 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... - A second generation human haplotype map of over 3.1 million SNPsKelly A Frazer
The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
Nature 449:851-61. 2007..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations... - Association between microdeletion and microduplication at 16p11.2 and autismLauren A Weiss
Autism Consortium, Boston, USA
N Engl J Med 358:667-75. 2008..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role... - Finding needles in haystacks--IRF6 gene variants in isolated cleft lip or cleft palateAravinda Chakravarti
N Engl J Med 351:822-4. 2004 - A genome-wide scan for obesity in African-AmericansXiaofeng Zhu
Department of Preventive Medicine and Epidemiology, Loyola University Medical School, Maywood, Illinois 60153, USA
Diabetes 51:541-4. 2002..The replication of linkage evidence using different ethnic groups reinforces the potential significance of this latter candidate region... - Planning the genome institute's futureWendy R Uhlmann
Science 299:1515; author reply 1515. 2003 - Human embryonic stem cells have a unique epigenetic signatureMarina Bibikova
Illumina, Inc, San Diego, California 92121, USA
Genome Res 16:1075-83. 2006..Our results indicate that hES cells have a unique epigenetic signature that may contribute to their developmental potential...
Research Grants
- Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)Aravinda Chakravarti; Fiscal Year: 2009..The long-term goal of this study is to enable a molecular understanding of the genetic basis of essential hypertension and provide a paradigm for SNP-based gene discovery in complex human disease. ..
- Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)Aravinda Chakravarti; Fiscal Year: 2007..The long-term goal of this study is to enable a molecular understanding of the genetic basis of essential hypertension and provide a paradigm for SNP-based gene discovery in complex human disease. ..
- Human Genomic Polymorphism in AutismAravinda Chakravarti; Fiscal Year: 2006..In this proposal, we carry on the tradition from the previous funding cycle of developing novel genomic technologies that are of direct relevance to the genetic dissection of complex neuropsychiatric traits. ..
- GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASEAravinda Chakravarti; Fiscal Year: 2007..The long-term objective of this study is to understand the molecular genetic basis of HSCR. More generally, our aim is to develop a paradigm for sequence-based biology in complex, human diseases. ..
- Human Genomic Polymorphisms And HaplotypesAravinda Chakravarti; Fiscal Year: 2004..They have demonstrated experience and expertise in genomic variation technology and their applications to human disease and population genetics and DNA chip technology. ..
- GENETIC EPIDEMIOLOGY OF HYPERTENSION: GENOMIC CORESAravinda Chakravarti; 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. ..
- GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASEAravinda Chakravarti; Fiscal Year: 2001..More generally, the aim is to develop a paradigm for the genetic and molecular analysis of complex, multifactorial human diseases. ..
- HUMAN GENOMIC POLYMORPHISMSAravinda Chakravarti; Fiscal Year: 2000..The second aim will allow us to accurately estimate the density of SNPs needed to efficiently develop haplotypes across the entire human genome for disease association studies. ..