Positions

Overview

  • Richard Myers, Ph.D., received his B.S. in biochemistry from the University of Alabama in 1977, his Ph.D. in biochemistry from the University of California at Berkeley and performed post-doctoral work at Harvard University. He began his first faculty position at the University of California at San Francisco in 1986 and moved his laboratory to Stanford University’s Department of Genetics in 1993. At Stanford, he was chair of the Department of Genetics and director of the Stanford Human Genome Center, which contributed more than 10 percent of the data in the public Human Genome Project’s efforts to sequence the human genome. Dr. Myers moved to HudsonAlpha in July 2008.

    Myers’s research program is focused on human genetics and genomics. Work in his laboratory has led to the identification of genes involved in several inherited diseases, and his genome center contributed more than 10 percent of the data in the public Human Genome Project’s efforts to sequence the human genome. His lab continues to use genomics tools and genetics to understand how genes interacting with the environment contribute to human diseases and other traits.

    Myers has won several awards, including the Pritzker Award and an honorary doctorate of human letters from the University of Alabama. He is an editor of Genome Research and reviews manuscripts for a variety of other journals.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasisAnnals of the Rheumatic Diseases.  78. 2019
    2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasisAnnals of the Rheumatic Diseases.  78:355-364. 2019
    2019 Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementiaActa Neuropathologica.  137:71-88. 2019
    2019 Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr)Alzheimer's and Dementia2019
    2018 Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesAmerican Journal of Human Genetics.  103:1022-1029. 2018
    2018 Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humansNature Communications.  9. 2018
    2018 Genomic sequencing identifies secondary findings in a cohort of parent study participantsGenetics in Medicine.  20:1635-1643. 2018
    2018 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary functionNature Communications.  9. 2018
    2018 Stage-specific epigenetic regulation of CD4 expression by coordinated enhancer elements during T cell developmentNature Communications.  9. 2018
    2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayPLoS Genetics.  14. 2018
    2018 powerTCR: A model-based approach to comparative analysis of the clone size distribution of the T cell receptor repertoirePLoS Computational Biology.  14. 2018
    2018 Connective Tissue Growth Factor Is a Novel ProdepressantBiological Psychiatry.  84:555-562. 2018
    2018 Erratum to: DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions (Nature, (2015), 528, 7583, (517-522), 10.1038/nature16193)Nature.  562:150. 2018
    2018 SnapperDB: a database solution for routine sequencing analysis of bacterial isolatesComputer applications in the biosciences : CABIOS.  34:3028-3029. 2018
    2018 Control of artifactual variation in reported intersample relatedness during clinical use of a mycobacterium tuberculosis sequencing pipelineJournal of Clinical Microbiology.  56. 2018
    2018 Inference of cell type content from human brain transcriptomic datasets illuminates the effects of age, manner of death, dissection, and psychiatric diagnosisPLoS ONE.  13. 2018
    2018 Systematic reanalysis of genomic data improves quality of variant interpretationClinical Genetics.  94:174-178. 2018
    2018 A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed frameworkBMC Genomics.  19. 2018
    2018 Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 SubphenotypesCell.  173:1705-1715.e16. 2018
    2018 Discovery and validation of circulating biomarkers of colorectal adenoma by high-depth small RNA sequencingClinical Cancer Research.  24:2092-2099. 2018
    2018 Sustained transmission of high-level azithromycin-resistant Neisseria gonorrhoeae in England: an observational studyLancet Infectious Diseases.  18:573-581. 2018
    2018 A toolbox of immunoprecipitation-grade monoclonal antibodies to human transcription factorsNature methods.  15:330-338. 2018
    2018 Genome-wide Analyses Identify KIF5A as a Novel ALS GeneNeuron.  97:1268-1283.e6. 2018
    2018 Quantitative validation of immunofluorescence and lectin staining using reduced CLARITY acrylamide formulationsZeitschrift fur Anatomie und Entwicklungsgeschichte.  223:987-999. 2018
    2018 MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD studyNeurology.  90:e264-e272. 2018
    2018 Evidence for a pan-neurodegenerative disease response in Huntington’s and Parkinson’s disease expression profilesFrontiers in Molecular Neuroscience.  10. 2018
    2018 Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's diseaseScience Translational Medicine.  10. 2018
    2017 The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patientsScientific Reports.  7. 2017
    2017 Stress amplifies sex differences in primate prefrontal profiles of gene expressionBiology of Sex Differences.  8. 2017
    2017 A genome-wide interactome of DNA-associated proteins in the human liverPCR methods and applications.  27:1950-1960. 2017
    2017 Genetic Overlap Between Attention-Deficit/Hyperactivity Disorder and Bipolar Disorder: Evidence From Genome-wide Association Study Meta-analysisBiological Psychiatry.  82:634-641. 2017
    2017 Haplotype-based stratification of Huntington's diseaseEuropean Journal of Human Genetics.  25:1202-1209. 2017
    2017 A modifier of Huntington's disease onset at the MLH1 locusHuman Molecular Genetics.  26:3859-3867. 2017
    2017 CCCTC-Binding Factor Translates Interleukin 2- and α-Ketoglutarate-Sensitive Metabolic Changes in T Cells into Context-Dependent Gene ProgramsImmunity.  47:251-267.e7. 2017
    2017 Molecular surveillance of measles and rubella in the WHO European Region: new challenges in the elimination phaseClinical Microbiology and Infection.  23:516-523. 2017
    2017 Post-mortem molecular profiling of three psychiatric disordersGenome Medicine.  9. 2017
    2017 Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cellsHuman Molecular Genetics.  26:2803-2811. 2017
    2017 Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophreniaTranslational Psychiatry.  7:e1155. 2017
    2017 Genome-wide pathway analysis identifies VEGF pathway association with oral ulceration in systemic lupus erythematosusArthritis Research.  19. 2017
    2017 ARNApipe: A balanced, efficient and distributed pipeline for processing RNA-seq data in high-performance computing environmentsComputer applications in the biosciences : CABIOS.  33:1727-1729. 2017
    2017 Genomic diagnosis for children with intellectual disability and/or developmental delayGenome Medicine.  9. 2017
    2017 Genome-wide DNA methylation measurements in prostate tissues uncovers novel prostate cancer diagnostic biomarkers and transcription factor binding patternsBMC Cancer.  17. 2017
    2017 Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary ResultsGenetics in Medicine.  19:337-344. 2017
    2017 Evaluation of logistic regression models and effect of covariates for case-control study in RNA-Seq analysisBMC Bioinformatics.  18. 2017
    2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismAmerican Journal of Human Genetics.  100:117-127. 2017
    2017 Enhanced surveillance of HIV-1 drug resistance in recently infected MSM in the UKJournal of Antimicrobial Chemotherapy.  72:227-234. 2017
    2017 Genomic regulation of invasion by STAT3 in triple negative breast cancerOncotarget.  8:8226-8238. 2017
    2017 RNA sequencing-based cell proliferation analysis across 19 cancers identifies a subset of proliferation-informative cancers with a common survival signatureOncotarget.  8:38668-38681. 2017
    2016 Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2Journal of Bone and Mineral Research.  31:2085-2097. 2016
    2016 DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association studyLancet Neurology.  15:1248-1256. 2016
    2016 The microRNA network is altered in anterior cingulate cortex of patients with unipolar and bipolar depressionJournal of Psychiatric Research.  82:58-67. 2016
    2016 Novel microRNA discovery using small RNA sequencing in post-mortem human brainBMC Genomics.  17. 2016
    2016 A reference panel of 64,976 haplotypes for genotype imputationNature Genetics.  48:1279-1283. 2016
    2016 Comparison of next-generation sequencing technologies for comprehensive assessment of full-length hepatitis C viral genomesJournal of Clinical Microbiology.  54:2470-2484. 2016
    2016 RNA sequencing of pancreatic adenocarcinoma tumors yields novel expression patterns associated with long-term survival and reveals a role for ANGPTL4Molecular Oncology.  10:1169-1182. 2016
    2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeAmerican Journal of Human Genetics.  99:711-719. 2016
    2016 Decoding transcriptional enhancers: Evolving from annotation to functional interpretationSeminars in Cell and Developmental Biology.  57:40-50. 2016
    2016 Kinase gene expression profiling of metastatic clear cell renal cell carcinoma tissue identifies potential new therapeutic targetsPLoS ONE.  11. 2016
    2016 The 4p16.3 Parkinson disease risk locus is associated with GAK expression and genes involved with the synaptic vesicle membranePLoS ONE.  11. 2016
    2016 Distinct gene regulatory programs define the inhibitory effects of liver X receptors and PPARG on cancer cell proliferationGenome Medicine.  8. 2016
    2016 Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))American Journal of Human Genetics.  99:246. 2016
    2016 Correction: RNA sequence analysis of human huntington disease brain reveals an extensive increase in inflammatory and developmental gene expressionPLoS ONE.  11. 2016
    2016 Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineAmerican Journal of Human Genetics.  98:1051-1066. 2016
    2016 A genome-wide association study identifies SLC8A3 as a susceptibility locus for ACPA-positive rheumatoid arthritisRheumatology.  55:1106-1111. 2016
    2016 Identification of IRX1 as a Risk Locus for Rheumatoid Factor Positivity in Rheumatoid Arthritis in a Genome-Wide Association StudyArthritis and Rheumatology.  68:1384-1391. 2016
    2016 Corrigendum: DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functionsNature.  533:130. 2016
    2016 Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expressionNature.  533:95-99. 2016
    2016 SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated GenesMolecular Cell.  61:859-873. 2016
    2016 microRNA profiles in Parkinson's disease prefrontal cortexFrontiers in Aging Neuroscience.  8. 2016
    2016 Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levelsNature Communications.  7. 2016
    2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney functionNature Communications.  7. 2016
    2016 Integrative analyses of proteomics and RNA transcriptomics implicate mitochondrial processes, protein folding pathways and GWAS loci in Parkinson diseaseBMC Medical Genomics.  9. 2016
    2016 Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic ProteinsCell.  164:45-56. 2016
    2016 Evidence for alterations of the glial syncytial function in major depressive disorderJournal of Psychiatric Research.  72:15-21. 2016
    2016 Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with PsoriasisJournal of Investigative Dermatology.  136:593-602. 2016
    2016 Whole-exome sequencing in familial Parkinson diseaseJAMA Neurology.  73:68-75. 2016
    2015 DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functionsNature.  528:517-522. 2015
    2015 Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sitesPCR methods and applications.  25:1791-1800. 2015
    2015 RNA sequence analysis of human huntington disease brain reveals an extensive increase in inflammatory and developmental gene expressionPLoS ONE.  10. 2015
    2015 Study of plasma-derived miRNAs mimic differences in Huntington's disease brainMovement Disorders.  30:1961-1964. 2015
    2015 The role of H3K4me3 in transcriptional regulation is altered in Huntington's diseasePLoS ONE.  10. 2015
    2015 Assessment of the utility of whole genome sequencing of measles virus in the characterisation of outbreaksPLoS ONE.  10. 2015
    2015 Evidence of extensive alternative splicing in post mortem human brain HTT transcription by mRNA sequencingPLoS ONE.  10. 2015
    2015 A deletion at adamts9-magi1 locus is associated with psoriatic arthritis riskAnnals of the Rheumatic Diseases.  74:1875-1881. 2015
    2015 CETCh-seq: CRISPR epitope tagging ChIP-seq of DNA-binding proteinsPCR methods and applications.  25:1581-1589. 2015
    2015 The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's DiseaseJournal of Huntington's Disease.  4:279-284. 2015
    2015 Variable telomere length across post-mortem human brain regions and specific reduction in the hippocampus of major depressive disorderTranslational Psychiatry.  5. 2015
    2015 Fibroblast growth factor 9 is a novel modulator of negative affectProceedings of the National Academy of Sciences.  112:11953-11958. 2015
    2015 Sequence-Level Analysis of the Major European Huntington Disease HaplotypeAmerican Journal of Human Genetics.  97:435-444. 2015
    2015 Identification of Genetic Factors that Modify Clinical Onset of Huntington's DiseaseCell.  162:516-526. 2015
    2015 Directional dominance on stature and cognition in diverse human populationsNature.  523:459-462. 2015
    2015 TBCRC 019: A phase II trial of nanoparticle albumin-bound paclitaxel with or without the anti-death receptor 5 monoclonal antibody tigatuzumab in patients with triple-negative breast cancerClinical Cancer Research.  21:2722-2729. 2015
    2015 NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cellsNature Genetics.  47:607-614. 2015
    2015 Genome sequence analysis of Ebola virus in clinical samples from three British healthcare workers, august 2014 to march 2015Eurosurveillance.  20. 2015
    2015 Mitochondrial Mutations in Subjects with Psychiatric DisordersPLoS ONE.  10. 2015
    2015 Identification of risk loci for crohn's disease phenotypes using a genome-wide association studyGastroenterology.  148:794-805. 2015
    2015 Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysScience.  347:1436-1441. 2015
    2015 MiR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvementBMC Medical Genomics.  8. 2015
    2015 Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathwaysNature Neuroscience.  18:199-209. 2015
    2015 Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorderAmerican Journal of Human Genetics.  96:283-294. 2015
    2015 Blocking of targeted microRNAs from next-generation sequencing librariesNucleic Acids Research.  43. 2015
    2015 Circadian dysregulation of clock genes: Clues to rapid treatments in major depressive disorderMolecular Psychiatry.  20:48-55. 2015
    2015 Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brainsHuman Molecular Genetics.  24:1441-1456. 2015
    2015 Genomic diversity of mumps virus and global distribution of the 12 genotypesReviews in Medical Virology.  25:85-101. 2015
    2015 Long-term transmission of measles virus in Central and continental Western EuropeVirus Genes.  50:2-11. 2015
    2015 Systems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart FailureJournal of the American College of Cardiology.  66:2522-2533. 2015
    2014 A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitisHuman Molecular Genetics.  23:6927-6934. 2014
    2014 DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinomaBMC Medicine.  12. 2014
    2014 In search of rare variants: Preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypesPsychophysiology.  51:1309-1320. 2014
    2014 Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and diseaseProceedings of the National Academy of Sciences.  111. 2014
    2014 Fully automated high-throughput chromatin immunoprecipitation for ChIP-seq: Identifying ChIP-quality p300 monoclonal antibodiesScientific Reports.  4. 2014
    2014 Identification of pathways for bipolar disorder: A meta-analysisJAMA Psychiatry.  71:657-664. 2014
    2014 Defining functional DNA elements in the human genomeProceedings of the National Academy of Sciences.  111:6131-6138. 2014
    2014 Altered choroid plexus gene expression in major depressive disorderFrontiers in Human Neuroscience.  8. 2014
    2014 Feasibility of Huntington disease trials in the disease prodromeNeurology.  82:824-825. 2014
    2014 Correction for multiple testing in a gene regionEuropean Journal of Human Genetics.  22:414-418. 2014
    2014 Regionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysisHuman Brain Mapping.  35:792-809. 2014
    2014 Cross-neutralizing antibodies elicited by the Cervarix ® human papillomavirus vaccine display a range of Alpha-9 inter-type specificitiesVaccine.  32:1139-1146. 2014
    2014 MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease PathogenesisPLoS Genetics.  10. 2014
    2014 Middle East respiratory syndrome coronavirus in dromedary camels: An outbreak investigationLancet Infectious Diseases.  14:140-145. 2014
    2014 Conserved higher-order chromatin regulates NMDA receptor gene expression and cognitionNeuron.  84:997-1008. 2014
    2014 Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortexSchizophrenia Research.  152:111-116. 2014
    2014 From single-cell to cell-pool transcriptomes: Stochasticity in gene expression and RNA splicingPCR methods and applications.  24:496-510. 2014
    2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's diseaseNature Genetics.  46:989-993. 2014
    2014 Recurrent read-through fusion transcripts in breast cancerBreast Cancer Research and Treatment.  146:287-297. 2014
    2013 G protein-linked signaling pathways in bipolar and major depressive disordersFrontiers in Genetics.  4. 2013
    2013 Integrating and mining the chromatin landscape of cell-type specificity using self-organizing mapsPCR methods and applications.  23:2136-2148. 2013
    2013 Distinct properties of cell-type-specific and shared transcription factor binding sitesMolecular Cell.  52:25-36. 2013
    2013 Mapping genome-wide transcription factor binding sites in frozen tissuesEpigenetics & Chromatin.  6. 2013
    2013 Differential DNA methylation with age displays both common and dynamic features across human tissues that are influenced by CpG landscapeGenome Biology.  14. 2013
    2013 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPsNature Genetics.  45:984-994. 2013
    2013 A neurodegeneration-specific gene-expression signature of acutely isolated microglia from an amyotrophic lateral sclerosis mouse modelCell Reports.  4:385-401. 2013
    2013 The 'Red Queen' dilemma - Running to stay in the same place: Reflections on the evolutionary vector of HBV in humansAntiviral Therapy.  18:489-496. 2013
    2013 Circadian patterns of gene expression in the human brain and disruption in major depressive disorderProceedings of the National Academy of Sciences.  110:9950-9955. 2013
    2013 Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization StudyPLoS Medicine.  10. 2013
    2013 Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onsetneurogenetics.  14:173-179. 2013
    2013 Dynamic DNA methylation across diverse human cell lines and tissuesPCR methods and applications.  23:555-567. 2013
    2013 Intricate interplay between astrocytes and motor neurons in ALSProceedings of the National Academy of Sciences.  110. 2013
    2013 Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple CohortsPLoS Medicine.  10. 2013
    2013 Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortexJournal of Psychiatric Research.  47:1215-1221. 2013
    2013 David R. Cox 1946-2013.Nature Genetics.  45:716. 2013
    2013 Early de novo DNA methylation and prolonged demethylation in the muscle lineageEpigenetics.  8:317-332. 2013
    2013 Glucocorticoid and mineralocorticoid receptor expression in the human hippocampus in major depressive disorderJournal of Psychiatric Research.  47:307-314. 2013
    2013 Glutamate transporters: A key piece in the glutamate puzzle of major depressive disorderJournal of Psychiatric Research.  47:1150-1156. 2013
    2012 CTCF/cohesin-mediated DNA looping is required for protocadherin α promoter choiceProceedings of the National Academy of Sciences.  109:21081-21086. 2012
    2012 Evidence for transcriptional factor dysregulation in the dorsal raphe nucleus of patients with major depressive disorderFrontiers in Neuroscience2012
    2012 Population stratiWcation may bias analysis of PGC-1α as a modiWer of age at Huntington disease motor onsetHuman Genetics.  131:1833-1840. 2012
    2012 Theria-Specific Homeodomain and cis-Regulatory Element Evolution of the Dlx3-4 Bigene Cluster in 12 Different Mammalian SpeciesJournal of Experimental Zoology Part B: Molecular and Developmental Evolution.  318:639-650. 2012
    2012 Genistein and bisphenol A exposure cause estrogen receptor 1 to bind thousands of sites in a cell type-specific mannerPCR methods and applications.  22:2153-2162. 2012
    2012 Human-Specific Histone Methylation Signatures at Transcription Start Sites in Prefrontal NeuronsPLoS Biology.  10. 2012
    2012 Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European PopulationsPLoS ONE.  7. 2012
    2012 Assessment of cortical and striatal involvement in 523 Huntington disease brainsNeurology.  79:1708-1715. 2012
    2012 A validated regulatory network for Th17 cell specificationCell.  151:289-303. 2012
    2012 Evaluation of Parkinson Disease Risk Variants as Expression-QTLsPLoS ONE.  7. 2012
    2012 Severe respiratory illness caused by a novel coronavirus, in a patient transferred to the United Kingdom from the Middle East, September 2012Eurosurveillance.  17. 2012
    2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstructionAmerican Journal of Respiratory and Critical Care Medicine.  186:622-632. 2012
    2012 An integrated encyclopedia of DNA elements in the human genomeNature.  489:57-74. 2012
    2012 Architecture of the human regulatory network derived from ENCODE dataNature.  489:91-100. 2012
    2012 Functional analysis of transcription factor binding sites in human promotersGenome Biology.  13. 2012
    2012 ChIP-seq guidelines and practices of the ENCODE and modENCODE consortiaPCR methods and applications.  22:1813-1831. 2012
    2012 Genetic architecture of variation in the lateral line sensory system of threespine sticklebacksG3 : Genes, Genomes, Genetics.  2:1047-1056. 2012
    2012 Phylodynamic and phylogeographic patterns of the HIV type 1 subtype F1 parenteral epidemic in RomaniaAIDS Research and Human Retroviruses.  28:961-966. 2012
    2012 Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factorsPCR methods and applications.  22:1798-1812. 2012
    2012 The hypersensitive glucocorticoid response specifically regulates period 1 and expression of circadian genesMolecular and Cellular Biology.  32:3756-3767. 2012
    2012 Widespread plasticity in CTCF occupancy linked to DNA methylationPCR methods and applications.  22:1680-1688. 2012
    2012 Genomic patterns of homozygosity in worldwide human populationsAmerican Journal of Human Genetics.  91:275-292. 2012
    2012 TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's diseaseBiochemical and Biophysical Research Communications.  424:404-408. 2012
    2012 Role of CCCTC binding factor (CTCF) and cohesin in the generation of single-cell diversity of Protocadherin-α gene expressionProceedings of the National Academy of Sciences.  109:9125-9130. 2012
    2012 Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulationPLoS Genetics.  8. 2012
    2012 Systematic evaluation of factors influencing ChIP-seq fidelityNature methods.  9:609-614. 2012
    2012 Effects of sequence variation on differential allelic transcription factor occupancy and gene expressionPCR methods and applications.  22:860-869. 2012
    2012 Molecular epidemiology of human rhinovirus infections in Kilifi, coastal KenyaJournal of Medical Virology.  84:823-831. 2012
    2012 Gene expression changes in the prefrontal cortex, anterior cingulate cortex and nucleus accumbens of mood disorders subjects that committed suicidePLoS ONE.  7. 2012
    2012 Postmortem interval influences α-synuclein expression in Parkinson disease brainParkinson's Disease2012
    2012 The genomic basis of adaptive evolution in threespine sticklebacksNature.  484:55-61. 2012
    2012 Dynamic microRNA gene transcription and processing during T cell developmentJournal of Immunology.  188:3257-3267. 2012
    2012 Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene regionAmerican Journal of Human Genetics.  90:434-444. 2012
    2012 CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashionNeurology.  78:690-695. 2012
    2012 Fatal cases of influenza A(H3N2) in children: Insights from whole genome sequence analysisPLoS ONE.  7. 2012
    2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene databasePLoS Genetics.  8. 2012
    2012 Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2Annals of Neurology.  71:370-384. 2012
    2012 Transposase mediated construction of RNA-seq libraries (Genome Research (2012) 22, (134-141))PCR methods and applications.  22:592. 2012
    2012 Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C GeneGenes and Cancer.  3:131-140. 2012
    2012 Molecular epidemiology of a large community-based outbreak of hepatitis B in Bristol, UKJournal of Clinical Virology.  53:125-129. 2012
    2012 Genetic signatures of exceptional longevity in humansPLoS ONE.  7. 2012
    2012 Cancer cell proliferation is inhibited by specific modulation frequenciesBritish Journal of Cancer.  106:307-313. 2012
    2012 A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence in sticklebacksCurrent Biology.  22:83-90. 2012
    2012 Evolutionary dynamics of local pandemic H1N1/2009 influenza virus lineages revealed by whole-genome analysisJournal of Virology.  86:11-18. 2012
    2012 Research resource: Enhanced genome-wide occupancy of estrogen receptor α by the cochaperone p23 in breast cancer cellsMolecular Endocrinology -Baltimore-.  26:194-202. 2012
    2012 Transposase mediated construction of RNA-seq librariesPCR methods and applications.  22:134-141. 2012
    2011 IκB kinase ε (IKKε) regulates the balance between type I and type II interferon responsesProceedings of the National Academy of Sciences.  108:21170-21175. 2011
    2011 RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studiesPLoS ONE.  6. 2011
    2011 Allele-specific distribution of RNA polymerase II On female X chromosomesHuman Molecular Genetics.  20:3964-3973. 2011
    2011 Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetesDiabetes.  60:2624-2634. 2011
    2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressureNature Genetics.  43:1005-1012. 2011
    2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4Nature Genetics.  43:977-985. 2011
    2011 Genomewide linkage study of modifiers of LRRK2-related Parkinson's diseaseMovement Disorders.  26:2039-2044. 2011
    2011 Lack of association to a NRG1 missense polymorphism in schizophrenia or bipolar disorder in a Costa Rican populationSchizophrenia Research.  131:52-57. 2011
    2011 Evolutionary pathways of the pandemic influenza a (H1N1) 2009 in the UKPLoS ONE.  6. 2011
    2011 Erratum: Generation of isogenic pluripotent stem cells differing exclusively at two early onset parkinson point mutations (Cell (2011) 146 (318-331))Cell.  146:659. 2011
    2011 Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortiumJournal of the Neurological Sciences.  307:22-29. 2011
    2011 Copy number variation in familial parkinson diseasePLoS ONE.  6. 2011
    2011 Analysis of dna methylation in a three-generation family reveals widespread genetic influence on epigenetic regulationPLoS Genetics.  7. 2011
    2011 The genetic basis of divergent pigment patterns in juvenile threespine sticklebacksHeredity.  107:155-166. 2011
    2011 Generation of isogenic pluripotent stem cells differing exclusively at two early onset parkinson point mutationsCell.  146:318-331. 2011
    2011 Retraction (Science)Science.  333:404. 2011
    2011 DNA methylation profiling reveals novel biomarkers and important roles for DNA methyltransferases in prostate cancerPCR methods and applications.  21:1017-1027. 2011
    2011 Integrated genomic analyses of ovarian carcinomaNature.  474:609-615. 2011
    2011 Altered expression of glutamate signaling, growth factor, and glia genes in the locus coeruleus of patients with major depressionMolecular Psychiatry.  16:634-646. 2011
    2011 Erratum: Mitochondrial involvement in psychiatric disorders (Annals of Medicine (2008) 40 (281-295))Annals of Medicine.  43:329. 2011
    2011 Coffee, ADORA2A, and CYP1A2: The caffeine connection in Parkinson's diseaseEuropean Journal of Neurology.  18:756-765. 2011
    2011 Investigating transmission of Mycobacterium bovis in the United Kingdom in 2005 to 2008Journal of Clinical Microbiology.  49:1943-1950. 2011
    2011 A user's guide to the Encyclopedia of DNA elements (ENCODE)PLoS Biology.  9. 2011
    2011 Appearance of a novel measles G3 strain in multiple European countries within a two month period, 2010Eurosurveillance.  16. 2011
    2011 Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: Results from the GenePD StudyHuman Molecular Genetics.  20:1478-1487. 2011
    2011 Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traitsPLoS Genetics.  7. 2011
    2011 Three residues in HIV-1 matrix contribute to protease inhibitor susceptibility and replication capacityAntimicrobial Agents and Chemotherapy.  55:1106-1113. 2011
    2010 Lack of Association between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control StudiesJournal of the American College of Cardiology.  56:1552-1563. 2010
    2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass indexNature Genetics.  42:937-948. 2010
    2010 Decreased glutamic acid decarboxylase mRNA expression in prefrontal cortex in Parkinson's diseaseExperimental Neurology.  226:207-217. 2010
    2010 Expression patterns of corticotropin-releasing factor, arginine vasopressin, histidine decarboxylase, melanin-concentrating hormone, and orexin genes in the human hypothalamusJournal of Comparative Neurology.  518:4591-4611. 2010
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    2001 Quantitative neuropathological changes in presymptomatic Huntington's diseaseAnnals of Neurology.  49:29-34. 2001
    2001 The effect of isolated soy protein on plasma biomarkers in elderly men with elevated serum prostate specific antigenJournal of Urology, The.  165:294-300. 2001
    2000 Absence of linkage for bone mineral density to chromosome 12q12-14 in the region of the vitamin D receptor geneCalcified Tissue International.  67:434-439. 2000
    2000 HIV type 1 protease cleavage site mutations and viral fitness: Implications for drug susceptibility phenotyping assaysAIDS Research and Human Retroviruses.  16:1149-1156. 2000
    2000 Genetic background of Lewis negative blood group phenotype and its association with atherosclerotic disease in the NHLBI Family Heart StudyJournal of Internal Medicine.  247:689-698. 2000
    2000 Evidence for major genes influencing pulmonary function in the NHLBI Family Heart StudyGenetic Epidemiology.  19:81-94. 2000
    2000 Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: A genome-wide scan in the Framingham StudyHuman Molecular Genetics.  9:1315-1320. 2000
    2000 Segregation analysis of serum uric acid in the NHLBI Family Heart StudyHuman Genetics.  106:355-359. 2000
    2000 Insulin and hypertension in the NHLBI family heart studyAmerican Journal of Hypertension.  13:240-250. 2000
    2000 Rate of functional decline in Huntington's diseaseNeurology.  54:452-458. 2000
    2000 Evidence for a gene influencing blood pressure on chromosome 17: Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham Heart StudyHypertension.  36:477-483. 2000
    2000 No evidence of linkage between the very-low-density lipoprotein receptor gene and fasting serum insulin or homeostasis model assessment insulin resistance index: The National Heart, Lung, and Blood Institute Family Heart StudyMetabolism.  49:293-297. 2000
    2000 Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus: The NHLBI family heart studyArteriosclerosis, Thrombosis, and Vascular Biology.  20:2275-2280. 2000
    2000 Resistance to the HIV protease inhibitor amprenavir in vitro and in clinical studies: A reviewClinical Drug Investigation.  20:267-285. 2000
    2000 Smoking influences the association between apolipoprotein E and lipids: The National Heart, Lung, and Blood Institute Family Heart StudyLipids.  35:827-831. 2000
    1999 Environmental, medical, and family history risk factors for Parkinson's disease: A new England-based case control studyAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  88:742-749. 1999
    1999 Absence of effect of seven functional mutations in the CYP2D6 gene in Parkinson's diseaseMovement Disorders.  14:590-595. 1999
    1999 Parental age at child's birth and son's risk of prostate cancer. The Framingham StudyAmerican Journal of Epidemiology.  150:1208-1212. 1999
    1999 Effects of similarities in lifestyle habits on familial aggregation of high density lipoprotein and low density lipoprotein cholesterol: The NHLBI Family Heart StudyAmerican Journal of Epidemiology.  150:910-918. 1999
    1999 Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autismAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  88:551-556. 1999
    1999 Evidence for the GluR6 gene associated with younger onset age of Huntington's diseaseNeurology.  53:1330-1332. 1999
    1999 A putative Drosophila homolog of the Huntington's disease geneHuman Molecular Genetics.  8:1807-1815. 1999
    1999 Evidence for a major gene accounting for mild elevation in LDL cholesterol: The NHLBI Family Heart StudyAnnals of Human Genetics.  63:401-412. 1999
    1999 Evaluation of biomarker modulation by fenretinide in prostate cancer patientsEuropean Urology.  35:429-438. 1999
    1999 Lewis blood group phenotype as an independent risk factor for coronary heart disease (the NHLBI Family Heart Study)American Journal of Cardiology.  83:345-348. 1999
    1999 A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in miceHuman Molecular Genetics.  8:763-774. 1999
    1999 A genomic screen of autism: Evidence for a multilocus etiologyAmerican Journal of Human Genetics.  65:493-507. 1999
    1999 Exclusion of linkage to the HLA region in ninety multiplex sibships with autismJournal of Autism and Developmental Disorders.  29:195-201. 1999
    1999 Impaired synaptic plasticity in mice carrying the Huntington's disease mutationHuman Molecular Genetics.  8:839-846. 1999
    1999 Increased platelet aggregability associated with platelet GPIIIa Pl(A2) polymorphism: The Framingham offspring studyArteriosclerosis, Thrombosis, and Vascular Biology.  19:1142-1147. 1999
    1999 The molecular genetic bases of the progressive myoclonus epilepsies.Advances in Neurology -New York- Raven Press-.  79:383-398. 1999
    1998 Segregation analysis of pulmonary function among families in the framingham studyAmerican Journal of Respiratory and Critical Care Medicine.  157:1445-1451. 1998
    1998 Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient miceNature Genetics.  20:251-258. 1998
    1998 A physical map of 30,000 human genesScience.  282:744-746. 1998
    1998 Characterization of the Huntington's disease (HD) gene homolog in the zebrafish Danio rerioGene.  217:117-125. 1998
    1998 On the pathological progression of Huntington's disease [1] (multiple letters)Annals of Neurology.  44:148-149. 1998
    1998 β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemiaLancet.  351:1919-1923. 1998
    1998 Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: The Framingham StudyArthritis and Rheumatism.  41:1064-1071. 1998
    1998 Evidence for association and genetic linkage of the angiotensin- converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart StudyCirculation.  97. 1998
    1998 Effects of age and ethnicity on the link between apoe ε4 and Alzheimer disease [2] (multiple letters)Journal of the American Medical Association.  279:580-582. 1998
    1998 1 H NMR spectroscopy studies of Huntington's disease. Correlations with CAG repeat numbersNeurology.  50:1357-1365. 1998
    1998 Angiotensinogen and angiotensin converting enzyme genotypes and carotid atherosclerosis: The atherosclerosis risk in communities and the NHLBI family heart studiesAtherosclerosis.  138:111-116. 1998
    1997 Gastrogenomic delights: A movable feastNature Medicine.  3:1076-1078. 1997
    1997 Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: A meta-analysisJournal of the American Medical Association.  278:1349-1356. 1997
    1997 Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 Involved in bladder cancerGenomics.  44:163-170. 1997
    1997 The BsmI vitamin D receptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral densityJournal of Bone and Mineral Research.  12:1049-1057. 1997
    1997 Long-term impact of Huntington disease linkage testingAmerican Journal of Medical Genetics.  70:365-370. 1997
    1997 CAG repeat number governs the development rate of pathology in huntington's diseaseAnnals of Neurology.  41:689-692. 1997
    1997 Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1Nature Genetics.  15:393-396. 1997
    1997 An STS-based radiation hybrid map of the human genomePCR methods and applications.  7:422-433. 1997
    1997 Familial history of stroke and stroke risk: The Family Heart StudyStroke.  28:1908-1912. 1997
    1997 Heritability of left ventricular mass: The Framingham Heart StudyHypertension.  30:1025-1028. 1997
    1997 High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISHPCR methods and applications.  7:820-829. 1997
    1997 Reduced penetrance of the Huntington's disease mutationHuman Molecular Genetics.  6:775-779. 1997
    1996 Isolation and characterization of the mouse cystatin B genePCR methods and applications.  6:1103-1109. 1996
    1996 Human immunodeficiency virus: Mutations in the viral protease that confer resistance to saquinavir increase the dissociation rate constant of the protease-saquinavir complexJournal of Biological Chemistry.  271:33231-33235. 1996
    1996 Evidence of cortical metabolic dysfunction in early Huntington's disease by single -photon-emission computed tomographyMovement Disorders.  11:671-677. 1996
    1996 Fluorescence in situ hybridization deletion mapping at 4p16.3 in bladder cancer cell lines refines the localisation of the critical interval to 30 kbGenes, Chromosomes and Cancer.  17:108-117. 1996
    1996 Human homolog of patched, a candidate gene for the basal cell nevus syndromeScience.  272:1668-1671. 1996
    1996 Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21qAmerican Journal of Human Genetics.  58:1247-1253. 1996
    1996 Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy genePCR methods and applications.  6:218-225. 1996
    1996 Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136 → Ser) variant in multigenerational pedigree studiesAtherosclerosis.  122:33-46. 1996
    1996 Absence of association or genetic linkage between the angiotensin-converting-enzyme gene and left ventricular massNew England Journal of Medicine.  334:1023-1028. 1996
    1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)Science.  271:1731-1734. 1996
    1996 Associations of types of lens opacities between and within eyes of individuals: An application of second-order generalized estimating equationsStatistics in Medicine.  15:145-156. 1996
    1996 A gene map of the human genomeScience.  274:540-546. 1996
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    1996 Apolipoprotein E ∈4 association with dementia in a population-based study: The Framingham StudyNeurology.  46:673-677. 1996
    1996 Genomes and evolutionCurrent Opinion in Genetics and Development.  6:683-685. 1996
    1996 Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDHNature Medicine.  2:347-350. 1996
    1996 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt- Jakob diseaseNeurology.  47:1305-1312. 1996
    1996 The end of the beginning: the race to begin human genome sequencing.PCR methods and applications.  6:771-772. 1996
    1995 In vitro selection and characterization of human immunodeficiency virus type 1 (HIV-1) isolates with reduced sensitivity to hydroxyethylamino sulfonamide inhibitors of HIV-1 aspartyl proteaseJournal of Virology.  69:5228-5235. 1995
    1995 Evidence from antibody studies that the CAG repeat in the huntington disease gene is expressed in the proteinHuman Molecular Genetics.  4:465-469. 1995
    1995 A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiationNature Genetics.  11:126-129. 1995
    1995 Cross-resistance analysis of human immunodeficiency virus type 1 variants individually selected for resistance to five different protease inhibitorsAntimicrobial Agents and Chemotherapy.  39:1704-1710. 1995
    1995 Statement on use of apolipoprotein E testing for Alzheimer diseaseJournal of the American Medical Association.  274:1627-1629. 1995
    1994 Localization of the α2-Macroglobulin Receptor-Associated Protein 1 Gene (LRPAP1) and Other Gene Fragments to Human Chromosome 4p16.3 by Direct cDNA SelectionGenomics.  24:410-413. 1994
    1994 A high resolution physical map of 2.5 Mbp of the down syndrome region on chromosome 21Human Molecular Genetics.  3:1811-1817. 1994
    1994 A transcript map of the down syndrome critical region on chromosome 21Human Molecular Genetics.  3:1735-1742. 1994
    1994 Assessing mapping progress in the human genome projectScience.  265:2031-2032. 1994
    1994 Identification of genes within CpG-enriched DNA from human chromosome 4p16.3Human Molecular Genetics.  3:1611-1616. 1994
    1994 Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4Human Molecular Genetics.  3:243-246. 1994
    1994 A clinical genetic study of parkinson’s disease: Evidence for dominant transmissionNeurology.  44:499-506. 1994
    1994 Apolipoprotein E Alleles, Dyslipidemia, and Coronary Heart Disease: The Framingham Offspring StudyJournal of the American Medical Association.  272:1666-1671. 1994
    1994 Huntington’s disease cag trinucleotide repeats in pathologically confirmed post-mortem brainsNeurobiology of Disease.  1:159-166. 1994
    1994 Neocortical Dendritic Pathology in Human Partial Epilepsy: A Quantitative Golgi StudyEpilepsia.  35:728-736. 1994
    1994 Pituitary cell line GH3 expresses two somatostatin receptor subtypes that inhibit adenylyl cyclase: Functional expression of rat somatostatin receptor subtypes 1 and 2 in human embryonic kidney 293 cellsMolecular Pharmacology.  45:402-409. 1994
    1994 Report of the third international workshop on human chromosome 4 mapping 1993Cytogenetics and Cell Genetics.  66:217-230. 1994
    1993 The development of sequence-tagged sites for human chromosome 4Human Molecular Genetics.  2:1271-1288. 1993
    1993 Construction of cosmid contigs and high-resolution restriction mapping of the huntington disease region of human chromosome 4Human Molecular Genetics.  2:889-899. 1993
    1993 Sensitivity of HincW to CpG methylationNucleic Acids Research.  21:2021. 1993
    1993 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomesCell.  72:971-983. 1993
    1993 A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Weidemann and associated embryonal tumor disease lociAmerican Journal of Human Genetics.  52:915-921. 1993
    1993 De novo expansion of a (CAG)n repeat in sporadic Huntington's diseaseNature Genetics.  5:168-173. 1993
    1993 Discrepancy resolvedNature Genetics.  5:215. 1993
    1993 Discrimination among potential activators of the β-globin CACCC element by correlation of binding and transcriptional propertiesMolecular and Cellular Biology.  13:44-56. 1993
    1993 Evidence for neuronal degeneration and dendritic plasticity in cortical pyramidal neurons of huntington's disease: A quantitative golgi studyNeurology.  43:2088-2096. 1993
    1993 Familial aggregation of stroke the framingham studyStroke.  24:1366-1371. 1993
    1993 Gametic but not somatic instability of CAG repeat length in Huntington's diseaseJournal of Medical Genetics.  30:982-986. 1993
    1993 Identification and characterization of a β-globin promoter-binding factor from murine erythroleukemia cellsMolecular and Cellular Biology.  13:4311-4322. 1993
    1993 International Commission for Protection against Environmental Mutagens and Carcinogens. Report of a workshop on the application of molecular genetics to the study of mutation in the children of atomic bomb survivors.Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis.  291:1-20. 1993
    1993 Report of a workshop on the application of molecular genetics to the study of mutation in the children of atomic bomb survivorsMutation Research - Environmental Mutagenesis and Related Subjects Including Methodology.  291:1-20. 1993
    1993 Segregation analysis for high density lipoprotein in the berkeley dataGenetic Epidemiology.  10:629-634. 1993
    1993 The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HDAmerican Journal of Human Genetics.  53:125-130. 1993
    1993 The pluses of subtractionScience.  259:942-943. 1993
    1993 Trinucleotide repeat length instability and age of onset in Huntington's diseaseNature Genetics.  4:387-392. 1993
    1992 Improved sequencing of cosmids using new primers and linearized DNANucleic Acids Research.  20:6421-6422. 1992
    1992 Cloning of the huntington disease region in yeast artificial chromosomesHuman Molecular Genetics.  1:149-159. 1992
    1992 Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigreeHuman Genetics.  88:562-568. 1992
    1992 A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locusGenomics.  14:574-584. 1992
    1992 A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNABioTechniques.  12. 1992
    1992 Bridging the gapsCurrent Biology.  2:338-339. 1992
    1992 Does the omission of missing information bias the estimates of age-at- onset distributions? [5]American Journal of Human Genetics.  50:652-654. 1992
    1992 Evidence of presymptomatic cognitive decline in Huntington's diseaseJournal of Clinical and Experimental Neuropsychology.  14:961-975. 1992
    1992 Familial lipoprotein disorders in patients with premature coronary artery diseaseCirculation.  85:2025-2033. 1992
    1992 Family patterns of coronary heart disease mortality: The Framingham Longevity StudyJournal of Clinical Epidemiology.  45:169-174. 1992
    1992 Huntington's disease: Seven cases with relatively preserved neostriatal isletsRevue Neurologique.  148:107-116. 1992
    1992 Identification and molecular cloning of a neuropeptide y homolog that produces prolonged inhibition in aplysia neuronsNeuron.  9:505-513. 1992
    1992 Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprintingAmerican Journal of Human Genetics.  50:528-535. 1992
    1992 Kynurenine pathway abnormalities in Parkinson's diseaseNeurology.  42:1702-1706. 1992
    1992 Recombination of 4p16 DNA markers in an unusual family with Huntington diseaseAmerican Journal of Human Genetics.  50:1218-1230. 1992
    1992 Segregation analysis in Alzheimer disease: No evidence for a major gene [2]American Journal of Human Genetics.  50:645-648. 1992
    1992 The Huntington's disease candidate region exhibits many different haplotypesNature Genetics.  1:99-103. 1992
    1991 A radiation hybrid map of the proximal long arm of human chromosome 11 containing the multiple endocrine neoplasia type 1 (MEN-1) and bcl-1 disease lociAmerican Journal of Human Genetics.  49:1189-1196. 1991
    1991 Dinucleotide repeat polymorphism located at D4S169Nucleic Acids Research.  19:6347. 1991
    1991 Taql RFLP at D21S137Nucleic Acids Research.  19:4020. 1991
    1991 Segregation analysis reveals evidence of a major gene for Alzheimer diseaseAmerican Journal of Human Genetics.  48:1026-1033. 1991
    1991 Identification of polymorphisms by genomic denaturing gradient gel electrophoresis: Application to the proximal region of human chromosome 21Nucleic Acids Research.  19:1475-1481. 1991
    1991 A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresisGenomics.  9:19-30. 1991
    1991 Cerebral amyloid angiopathy without and with cerebral hemorrhages: A comparative histological studyAnnals of Neurology.  30:637-649. 1991
    1991 Decreased neuronal and increased oligodendroglial densities in huntington’s disease caudate nucleusJournal of Neuropathology and Experimental Neurology.  50:729-742. 1991
    1991 Estimation of morbid risk and age at onset with missing informationAmerican Journal of Human Genetics.  49:76-87. 1991
    1991 Factors Associated With Slow Progression in Huntington's DiseaseArchives of Neurology -Chigago-.  48:800-804. 1991
    1991 Invited editorial: The end in sight for Huntington disease?American Journal of Human Genetics.  49:1-6. 1991
    1991 Morphometric analysis of the prefrontal cortex in huntington’s diseaseNeurology.  41:1117-1123. 1991
    1991 Physical mapping of yeast artificial chromosomes containing sequences from the human β-globin gene regionGenomics.  10:976-984. 1991
    1991 Primary structure and functional expression of the 5HT3receptor, a serotonin-gated ion channelScience.  254:432-437. 1991
    1991 Understanding the decision to take the predictive test for Huntington diseaseAmerican Journal of Medical Genetics.  39:404-410. 1991
    1990 Exon trapping: A genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNAProceedings of the National Academy of Sciences.  87:8995-8999. 1990
    1990 Dinucleotide repeat polymorphism located at D21S120Nucleic Acids Research.  18:6754. 1990
    1990 A directly repeated sequence in the β-globin promoter regulates transcription in murine erythroleukemia cellsMolecular and Cellular Biology.  10:972-981. 1990
    1990 A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patientsProceedings of the National Academy of Sciences.  87:7309-7313. 1990
    1990 Analysis of the site in CD4 that binds to the HIV envelope glycoproteinJournal of Immunology.  144:3078-3086. 1990
    1990 Estimation of familial risk in Alzheimer's diseaseAnnals of Neurology.  27:338-340. 1990
    1990 Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorderNature.  347:194-197. 1990
    1990 Multiple sclerosis sibling pairs: Clustered onset and familial predispositionNeurology.  40:1546-1552. 1990
    1990 Non-hydrophobic extracytoplasmic determinant of stop transfer in the prion proteinNature.  343:669-672. 1990
    1990 Parental history is an independent risk factor for coronary artery disease: The Framingham StudyAmerican Heart Journal.  120:963-969. 1990
    1990 Radiation hybrid mapping: A somatic cell genetic method for constructing high-resolution maps of mammalian chromosomesScience.  250:245-250. 1990
    1990 ReplyAnnals of Neurology.  27:340-341. 1990
    1990 Structure and variability of human chromosome endsMolecular and Cellular Biology.  10:518-527. 1990
    1990 Transmission and age-at-onset patterns in familial alzheimer’s disease: Evidence for heterogeneityNeurology.  40:395-403. 1990
    1990 Unusual topogenic sequence directs prion protein biogenesisScience.  248:226-229. 1990
    1989 Genetic and biochemical analysis of the mouse beta-major globin promoter.Progress in clinical and biological research.  316 A:117-127. 1989
    1989 Linkage map of anonymous loci near the CF gene.Progress in clinical and biological research.  329:29-34. 1989
    1989 Coronary risk associated with age and sex of parental heart disease in the Framingham StudyAmerican Journal of Cardiology.  64:555-559. 1989
    1989 Methylation at the Huntington disease-linked D4S95 locus.American Journal of Human Genetics.  45:335-336. 1989
    1989 Assessment of genetic risk for alzheimer's disease among first‐degree relativesAnnals of Neurology.  25:485-493. 1989
    1989 Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changesProceedings of the National Academy of Sciences.  86:232-236. 1989
    1989 Authors' response to commentariesNeurobiology of Aging.  10:446-448. 1989
    1989 Clustering of multiallele DNA markers near the Huntington's disease geneJournal of Clinical Investigation.  84:1013-1016. 1989
    1989 Estimation of fertility and fitness in Huntington disease in New EnglandAmerican Journal of Medical Genetics.  33:248-254. 1989
    1989 Familial Alzheimer's disease: Progress and problemsNeurobiology of Aging.  10:417-425. 1989
    1989 Homozygote for Huntington diseaseAmerican Journal of Human Genetics.  45:615-618. 1989
    1989 Huntington disease: No evidence for locus heterogeneityGenomics.  5:304-308. 1989
    1989 Isolation and field-inversion gel electrophoresis analysis of DNA markers located close to the Huntington disease geneGenomics.  4:408-418. 1989
    1989 Molecular Genetics of Familial Alzheimer's DiseaseCanadian Journal of Neurological Sciences.  16:465-467. 1989
    1989 Molecular genetics of familial alzheimer’s diseaseEuropean Neurology.  29:25-27. 1989
    1989 Phenotypic variation in 2 huntington’s disease families with linkage to chromosome 4Neurology.  39:1332-1336. 1989
    1989 Segregation of the Huntington disease region of human chromosome 4 in a somatic cell hybridGenomics.  4:397-407. 1989
    1989 Using survival methods to estimate age‐at‐onset distributions for genetic diseases with an application to Huntington diseaseGenetic Epidemiology.  6:361-371. 1989
    1988 Predictive Testing for Huntington's Disease Using Linked DNA MarkersNew England Journal of Medicine.  319:583-584. 1988
    1988 Predictive Testing for Huntingtons Disease with Use of a Linked DNA MarkerNew England Journal of Medicine.  318:535-542. 1988
    1988 Clinical and neuropathologic assessment of severity in huntington’s diseaseNeurology.  38:341-347. 1988
    1988 Considerations in using linkage analysis as a presymptomatic test for Huntington's diseaseJournal of Medical Genetics.  25:577-588. 1988
    1988 DNA sequences involved in transcriptional regulation of the mouse β-globin promoter in murine erythroleukemia cellsMolecular and Cellular Biology.  8:3122-3128. 1988
    1987 Alterations in DNA helix stability due to base modifications can be evaluated using denaturing gradient gel electrophoresisJournal of Molecular Biology.  198:737-744. 1987
    1987 Absence of duplication of chromosome 21 genes in familial and sporadic alzheimer's diseaseScience.  238:664-666. 1987
    1987 Detection and Localization of Single Base Changes by Denaturing Gradient Gel ElectrophoresisMethods in Enzymology.  155:501-527. 1987
    1987 Search for the familial Alzheimer's disease gene.Journal of Neural Transmission Supplementum.  24:13-21. 1987
    1987 The genetic defect causing familial Alzheimer's disease maps on chromosome 21Science.  235:885-890. 1987
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    1986 Recent advances in the development of methods for detecting single-base substitutions associated with human genetic diseasesCold Spring Harbor Symposia on Quantitative Biology.  51:275-284. 1986
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    1986 Fine structure genetic analysis of a β-globin promoterScience.  232:613-618. 1986
    1985 Detection of single base substitutions in total genomic DNANature.  313:495-498. 1985
    1985 Huntington's disease: genetics, chemical pathology, and management.Progress in medical genetics.  6:91-122. 1985
    1985 Maternal factors in onset of Huntington diseaseAmerican Journal of Human Genetics.  37:511-523. 1985
    1985 Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresisNucleic Acids Research.  13:3111-3129. 1985
    1985 Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresisNucleic Acids Research.  13:3131-3145. 1985
    1985 A general method for saturation mutagenesis of cloned DNA fragmentsScience.  229:242-247. 1985
    1985 Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexesScience.  230:1242-1246. 1985
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    1984 Mutational analysis of simian virus 40 large T antigen DNA binding sites.EMBO Journal.  3:3247-3255. 1984
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    1984 Increased rate of suicide among patients with Huntington's diseaseJournal of Neurology, Neurosurgery and Psychiatry.  47:1283-1287. 1984
    1984 Noninvasive cardiology tools and endpoints in genetic epidemiology: the Framingham Study.Progress in clinical and biological research.  147:407-417. 1984
    1984 Potential impact of a predictive test on the gene frequency of Huntington diseaseAmerican Journal of Medical Genetics.  18:423-429. 1984
    1983 Huntington's disease in monozygotic twins reared apartJournal of Medical Genetics.  20:408-411. 1983
    1983 MATERNAL TRANSMISSION IN HUNTINGTON'S DISEASELancet.  321:208-210. 1983
    1982 False-Negative Results with Levodopa for Early Detection of Huntington's DiseaseNew England Journal of Medicine.  307:561-562. 1982
    1982 Alzheimer's Disease, Down's Syndrome, and Aging: The Genetic ApproachAnnals of the New York Academy of Sciences.  396:3-13. 1982
    1982 Factors related to onset age of Huntington diseaseAmerican Journal of Human Genetics.  34:481-488. 1982
    1981 Does simian virus 40 T antigen unwind DNA?Journal of Biological Chemistry.  256:10156-10160. 1981
    1981 Oligomeric structure of a simian virus 40 T antigen in free form and bound to DNAJournal of Molecular Biology.  148:347-353. 1981
    1981 SV40 gene expression is modulated by the cooperative binding of T antigen to DNACell.  25:373-384. 1981
    1980 Regulation of simian virus 40 early transcription in vitro by a purified tumor antigenProceedings of the National Academy of Sciences.  77:5706-5710. 1980
    1980 Characteristics of a Gibbon-Siamang hybrid apeInternational Journal of Primatology.  1:203-221. 1980
    1980 Construction and analysis of simian virus 40 origins defective in tumor antigen binding and DNA replicationProceedings of the National Academy of Sciences.  77:6491-6495. 1980
    1979 Quantification of muscle tremor of Huntington's disease patients and their offspring in an early detection studyBiological Psychiatry.  14:777-789. 1979
    1979 Hybrid ape offspring of a mating of gibbon and siamangScience.  205:308-310. 1979
    1977 Learned aversions to intracerebral carbacholPhysiology and Behavior.  19:467-472. 1977

    Book

    Year Title Altmetric
    2016 Advancements in Next-Generation Sequencing.  Ed. 17.  2016

    Chapter

    Year Title Altmetric
    2016 Huntington’s disease.  503-516. 2016
    2015 Mutation detection by PCR, GC-ciamps, and denaturing gradient gel electrophoresis.  71-88. 2015
    2008 The Fibroblast Growth Factor Family and Mood Disorders.  94-96. 2008

    Education And Training

  • Doctor of Philosophy in Biochemistry, University of California System : Berkeley 1982
  • Bachelor of Science or Mathematics, University of Alabama 1977
  • Full Name

  • Richard Myers