| Year |
Title |
Altmetric |
| 2022
|
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
2022
|
|
| 2022
|
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease.
Nature Genetics.
54:1786-1794.
2022
|
|
| 2022
|
Longitudinal analysis of blood DNA methylation identifies mechanisms of response to tumor necrosis factor inhibitor therapy in rheumatoid arthritis.
EBioMedicine.
80.
2022
|
|
| 2022
|
Erratum: Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes (Nature (2020) 583 7818 (699-710)).
Nature.
605:E3.
2022
|
|
| 2022
|
Erratum: Author Correction: Perspectives on ENCODE (Nature (2020) 583 7818 (693-698)).
Nature.
605:E4.
2022
|
|
| 2022
|
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Nature.
604:509-516.
2022
|
|
| 2022
|
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.
Biological Psychiatry.
91:313-327.
2022
|
|
| 2021
|
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease.
Alzheimer's and Dementia.
17:e055982.
2021
|
|
| 2021
|
Identification of cis-regulatory elements associated with MAPT expression in human induced pluripotent stem cell derived neural cells.
Alzheimer's and Dementia.
17:e058349.
2021
|
|
| 2021
|
Pooled CRISPR screening in pancreatic cancer cells implicates co-repressor complexes as a cause of multiple drug resistance via regulation of epithelial-to-mesenchymal transition.
BMC Cancer.
21.
2021
|
|
| 2021
|
STAT3 and GR cooperate to drive gene expression and growth of basal-like triple-negative breast cancer.
Cancer Research.
80:4355-4370.
2021
|
|
| 2021
|
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics and Genomic Medicine.
9.
2021
|
|
| 2021
|
Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (Molecular Psychiatry, (2021), 26, 9, (5239-5250), 10.1038/s41380-020-01006-9).
Molecular Psychiatry.
26:5251.
2021
|
|
| 2021
|
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry.
26:5239-5250.
2021
|
|
| 2021
|
Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.
Molecular Psychiatry.
26:1286-1298.
2021
|
|
| 2021
|
The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science.
Frontiers in Neurology.
12.
2021
|
|
| 2021
|
Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
PLoS Genetics.
17.
2021
|
|
| 2021
|
Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands.
Genome Research.
31:866-876.
2021
|
|
| 2021
|
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life.
AJOB empirical bioethics.
12:179-189.
2021
|
|
| 2020
|
Corrigendum: Longitudinal Analysis of T and B Cell Receptor Repertoire Transcripts Reveal Dynamic Immune Response in COVID-19 Patients(Front. Immunol., (2020), 11, (582010), 10.3389/fimmu.2020.582010).
Frontiers in Immunology.
11.
2020
|
|
| 2020
|
PEA15 loss of function and defective cerebral development in the domestic cat.
PLoS Genetics.
16.
2020
|
|
| 2020
|
Longitudinal Analysis of T and B Cell Receptor Repertoire Transcripts Reveal Dynamic Immune Response in COVID-19 Patients.
Frontiers in Immunology.
11.
2020
|
|
| 2020
|
Response to Holstege et al..
American Journal of Human Genetics.
107:577-578.
2020
|
|
| 2020
|
Expanded encyclopaedias of DNA elements in the human and mouse genomes.
Nature.
583:699-710.
2020
|
|
| 2020
|
Occupancy maps of 208 chromatin-associated proteins in one human cell type.
Nature.
583:720-728.
2020
|
|
| 2020
|
Assembly of the threespine stickleback y chromosome reveals convergent signatures of sex chromosome evolution.
Genome Biology.
21.
2020
|
|
| 2020
|
The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.
Biological Psychiatry.
88:169-184.
2020
|
|
| 2020
|
Dissecting the regulatory activity and sequence content of loci with exceptional numbers of transcription factor associations.
Genome Research.
30:939-950.
2020
|
|
| 2020
|
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
American Journal of Human Genetics.
106:632-645.
2020
|
|
| 2020
|
TBCRC 002: A phase II, randomized, open-label trial of preoperative letrozole with or without bevacizumab in postmenopausal women with newly diagnosed stage 2/3 hormone receptor-positive and HER2-negative breast cancer.
Breast Cancer Research.
22.
2020
|
|
| 2019
|
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.
Cell.
179:1469-1482.e11.
2019
|
|
| 2019
|
Batf Pioneers the Reorganization of Chromatin in Developing Effector T Cells via Ets1-Dependent Recruitment of Ctcf.
Cell Reports.
29:1203-1220.e7.
2019
|
|
| 2019
|
Determining the Origins of Human Immunodeficiency Virus Type 1 Drug-resistant Minority Variants in People Who Are Recently Infected Using Phylogenetic Reconstruction.
Clinical Infectious Diseases.
69:1136-1143.
2019
|
|
| 2019
|
CRISPR/Cas9-targeted removal of unwanted sequences from small-RNA sequencing libraries.
Nucleic Acids Research.
47:E84.
2019
|
|
| 2019
|
Transmembrane Protein Aptamer Induces Cooperative Signaling by the EPO Receptor and the Cytokine Receptor β-Common Subunit.
iScience.
17:167-181.
2019
|
|
| 2019
|
Splice-Break: Exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
Nucleic Acids Research.
47.
2019
|
|
| 2019
|
Tumour-specific amplitude-modulated radiofrequency electromagnetic fields induce differentiation of hepatocellular carcinoma via targeting Cav3.2 T-type voltage-gated calcium channels and Ca2+ influx.
EBioMedicine.
44:209-224.
2019
|
|
| 2019
|
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Genome Research.
29:809-818.
2019
|
|
| 2019
|
Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).
Alzheimer's and Dementia.
15:709-719.
2019
|
|
| 2019
|
Genome-wide association study identifies 30 loci associated with bipolar disorder.
Nature Genetics.
51:793-803.
2019
|
|
| 2019
|
HDAC2 Regulates Site-Specific Acetylation of MDM2 and Its Ubiquitination Signaling in Tumor Suppression.
iScience.
13:43-54.
2019
|
|
| 2019
|
Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.
Annals of the Rheumatic Diseases.
78:355-364.
2019
|
|
| 2019
|
Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.
Annals of the Rheumatic Diseases.
78:355-364.
2019
|
|
| 2019
|
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Acta Neuropathologica.
137:71-88.
2019
|
|
| 2019
|
Dynamics of microRNA expression during mouse prenatal development.
Genome Research.
29:1900-1909.
2019
|
|
| 2019
|
Genome sequencing for early-onset or atypical dementia: High diagnostic yield and frequent observation of multiple contributory alleles.
Cold Spring Harbor molecular case studies.
5.
2019
|
|
| 2018
|
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
American Journal of Human Genetics.
103:1022-1029.
2018
|
|
| 2018
|
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.
Communications Biology.
1.
2018
|
|
| 2018
|
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans.
Nature Communications.
9.
2018
|
|
| 2018
|
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genetics in Medicine.
20:1635-1643.
2018
|
|
| 2018
|
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.
Nature Communications.
9.
2018
|
|
| 2018
|
Stage-specific epigenetic regulation of CD4 expression by coordinated enhancer elements during T cell development.
Nature 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 delay.
PLoS Genetics.
14.
2018
|
|
| 2018
|
powerTCR: A model-based approach to comparative analysis of the clone size distribution of the T cell receptor repertoire.
PLoS Computational Biology.
14.
2018
|
|
| 2018
|
Connective Tissue Growth Factor Is a Novel Prodepressant.
Biological 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 isolates.
Bioinformatics.
34:3028-3029.
2018
|
|
| 2018
|
Control of artifactual variation in reported intersample relatedness during clinical use of a mycobacterium tuberculosis sequencing pipeline.
Journal of Clinical Microbiology.
56.
2018
|
|
| 2018
|
Systematic reanalysis of genomic data improves quality of variant interpretation
2018
|
|
| 2018
|
A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework.
BMC Genomics.
19.
2018
|
|
| 2018
|
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.
Cell.
173:1705-1715.e16.
2018
|
|
| 2018
|
Discovery and validation of circulating biomarkers of colorectal adenoma by high-depth small RNA sequencing.
Clinical Cancer Research.
24:2092-2099.
2018
|
|
| 2018
|
Sustained transmission of high-level azithromycin-resistant Neisseria gonorrhoeae in England: an observational study.
Lancet Infectious Diseases.
18:573-581.
2018
|
|
| 2018
|
A toolbox of immunoprecipitation-grade monoclonal antibodies to human transcription factors.
Nature Methods.
15:330-338.
2018
|
|
| 2018
|
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Neuron.
97:1268-1283.e6.
2018
|
|
| 2018
|
Quantitative validation of immunofluorescence and lectin staining using reduced CLARITY acrylamide formulations.
Brain Structure and Function.
223:987-999.
2018
|
|
| 2018
|
Evidence for a pan-neurodegenerative disease response in Huntington’s and Parkinson’s disease expression profiles.
Frontiers in Molecular Neuroscience.
10.
2018
|
|
| 2018
|
MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study.
Neurology.
90:E264-E272.
2018
|
|
| 2017
|
Stress amplifies sex differences in primate prefrontal profiles of gene expression.
Biology of Sex Differences.
8.
2017
|
|
| 2017
|
A genome-wide interactome of DNA-associated proteins in the human liver.
Genome Research.
27:1950-1960.
2017
|
|
| 2017
|
Genetic Overlap Between Attention-Deficit/Hyperactivity Disorder and Bipolar Disorder: Evidence From Genome-wide Association Study Meta-analysis.
Biological Psychiatry.
82:634-641.
2017
|
|
| 2017
|
Haplotype-based stratification of Huntington's disease.
European Journal of Human Genetics.
25:1202-1209.
2017
|
|
| 2017
|
A modifier of Huntington's disease onset at the MLH1 locus.
Human 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 Programs.
Immunity.
47:251-267.e7.
2017
|
|
| 2017
|
Molecular surveillance of measles and rubella in the WHO European Region: new challenges in the elimination phase.
Clinical Microbiology and Infection.
23:516-523.
2017
|
|
| 2017
|
Post-mortem molecular profiling of three psychiatric disorders
2017
|
|
| 2017
|
Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cells.
Human Molecular Genetics.
26:2803-2811.
2017
|
|
| 2017
|
Genome-wide pathway analysis identifies VEGF pathway association with oral ulceration in systemic lupus erythematosus.
Arthritis Research and Therapy.
19.
2017
|
|
| 2017
|
ARNApipe: A balanced, efficient and distributed pipeline for processing RNA-seq data in high-performance computing environments.
Bioinformatics.
33:1727-1729.
2017
|
|
| 2017
|
Genomic diagnosis for children with intellectual disability and/or developmental delay
2017
|
|
| 2017
|
Genome-wide DNA methylation measurements in prostate tissues uncovers novel prostate cancer diagnostic biomarkers and transcription factor binding patterns.
BMC Cancer.
17.
2017
|
|
| 2017
|
Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary Results.
Genetics in Medicine.
19:337-344.
2017
|
|
| 2017
|
Evaluation of logistic regression models and effect of covariates for case-control study in RNA-Seq analysis.
BMC Bioinformatics.
18.
2017
|
|
| 2017
|
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
American Journal of Human Genetics.
100:117-127.
2017
|
|
| 2017
|
Enhanced surveillance of HIV-1 drug resistance in recently infected MSM in the UK.
Journal of Antimicrobial Chemotherapy.
72:227-234.
2017
|
|
| 2017
|
Genomic regulation of invasion by STAT3 in triple negative breast cancer.
Oncotarget.
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 signature.
Oncotarget.
8:38668-38681.
2017
|
|
| 2016
|
Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2.
Journal 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 study.
Lancet Neurology.
15:1248-1256.
2016
|
|
| 2016
|
The microRNA network is altered in anterior cingulate cortex of patients with unipolar and bipolar depression.
Journal of Psychiatric Research.
82:58-67.
2016
|
|
| 2016
|
Novel microRNA discovery using small RNA sequencing in post-mortem human brain.
BMC Genomics.
17.
2016
|
|
| 2016
|
A reference panel of 64,976 haplotypes for genotype imputation.
Nature Genetics.
48:1279-1283.
2016
|
|
| 2016
|
Comparison of next-generation sequencing technologies for comprehensive assessment of full-length hepatitis C viral genomes.
Journal 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 ANGPTL4.
Molecular 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 Syndrome.
American Journal of Human Genetics.
99:711-719.
2016
|
|
| 2016
|
Kinase gene expression profiling of metastatic clear cell renal cell carcinoma tissue identifies potential new therapeutic targets.
PLoS One.
11.
2016
|
|
| 2016
|
Distinct gene regulatory programs define the inhibitory effects of liver X receptors and PPARG on cancer cell proliferation
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
|
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
American Journal of Human Genetics.
98:1051-1066.
2016
|
|
| 2016
|
Identification of IRX1 as a Risk Locus for Rheumatoid Factor Positivity in Rheumatoid Arthritis in a Genome-Wide Association Study.
Arthritis and Rheumatology.
68:1384-1391.
2016
|
|
| 2016
|
Corrigendum: DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions.
Nature.
533:130.
2016
|
|
| 2016
|
Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression.
Nature.
533:95-99.
2016
|
|
| 2016
|
SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated Genes.
Molecular Cell.
61:859-873.
2016
|
|
| 2016
|
microRNA profiles in Parkinson's disease prefrontal cortex.
Frontiers in Aging Neuroscience.
8.
2016
|
|
| 2016
|
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
Nature Communications.
7.
2016
|
|
| 2016
|
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Nature Communications.
7.
2016
|
|
| 2016
|
Integrative analyses of proteomics and RNA transcriptomics implicate mitochondrial processes, protein folding pathways and GWAS loci in Parkinson disease.
BMC Medical Genomics.
9.
2016
|
|
| 2016
|
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
Cell.
164:45-56.
2016
|
|
| 2016
|
Clinical-genetic associations in the Prospective Huntington at Risk Observational Study (PHAROS) implications for clinical trials.
JAMA Neurology.
73:102-110.
2016
|
|
| 2016
|
Evidence for alterations of the glial syncytial function in major depressive disorder.
Journal of Psychiatric Research.
72:15-21.
2016
|
|
| 2016
|
Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis.
Journal of Investigative Dermatology.
136:593-602.
2016
|
|
| 2016
|
Whole-exome sequencing in familial Parkinson disease.
JAMA Neurology.
73:68-75.
2016
|
|
| 2015
|
DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions.
Nature.
528:517-522.
2015
|
|
| 2015
|
Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites.
Genome Research.
25:1791-1800.
2015
|
|
| 2015
|
Study of plasma-derived miRNAs mimic differences in Huntington's disease brain.
Movement Disorders.
30:1961-1964.
2015
|
|
| 2015
|
A deletion at adamts9-magi1 locus is associated with psoriatic arthritis risk.
Annals of the Rheumatic Diseases.
74:1875-1881.
2015
|
|
| 2015
|
CETCh-seq: CRISPR epitope tagging ChIP-seq of DNA-binding proteins.
Genome Research.
25:1581-1589.
2015
|
|
| 2015
|
The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.
Journal of Huntington's Disease.
4:279-284.
2015
|
|
| 2015
|
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
American Journal of Human Genetics.
97:435-444.
2015
|
|
| 2015
|
Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.
Cell.
162:516-526.
2015
|
|
| 2015
|
Directional dominance on stature and cognition in diverse human populations.
Nature.
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 cancer.
Clinical Cancer Research.
21:2722-2729.
2015
|
|
| 2015
|
NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cells.
Nature Genetics.
47:607-614.
2015
|
|
| 2015
|
Genome sequence analysis of Ebola virus in clinical samples from three British healthcare workers, august 2014 to march 2015.
Eurosurveillance.
20.
2015
|
|
| 2015
|
Identification of risk loci for crohn's disease phenotypes using a genome-wide association study.
Gastroenterology.
148:794-805.
2015
|
|
| 2015
|
Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.
Human Molecular Genetics.
24:1441-1456.
2015
|
|
| 2015
|
MiR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement.
BMC Medical Genomics.
8.
2015
|
|
| 2015
|
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.
Nature Neuroscience.
18:199-209.
2015
|
|
| 2015
|
Circadian dysregulation of clock genes: Clues to rapid treatments in major depressive disorder.
Molecular Psychiatry.
20:48-55.
2015
|
|
| 2015
|
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
American Journal of Human Genetics.
96:283-294.
2015
|
|
| 2015
|
Blocking of targeted microRNAs from next-generation sequencing libraries.
Nucleic Acids Research.
43.
2015
|
|
| 2015
|
Systems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart Failure.
Journal 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 colitis.
Human Molecular Genetics.
23:6927-6934.
2014
|
|
| 2014
|
DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinoma.
BMC Medicine.
12.
2014
|
|
| 2014
|
Conserved higher-order chromatin regulates NMDA receptor gene expression and cognition.
Neuron.
84:997-1008.
2014
|
|
| 2014
|
Identification of pathways for bipolar disorder: A meta-analysis.
JAMA Psychiatry.
71:657-664.
2014
|
|
| 2014
|
Altered choroid plexus gene expression in major depressive disorder.
Frontiers in Human Neuroscience.
8.
2014
|
|
| 2014
|
Feasibility of Huntington disease trials in the disease prodrome.
Neurology.
82:824-825.
2014
|
|
| 2014
|
Correction for multiple testing in a gene region.
European Journal of Human Genetics.
22:414-418.
2014
|
|
| 2014
|
Regionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysis.
Human Brain Mapping.
35:792-809.
2014
|
|
| 2014
|
MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis.
PLoS Genetics.
10.
2014
|
|
| 2014
|
Middle East respiratory syndrome coronavirus in dromedary camels: An outbreak investigation.
Lancet Infectious Diseases.
14:140-145.
2014
|
|
| 2014
|
From single-cell to cell-pool transcriptomes: Stochasticity in gene expression and RNA splicing.
Genome Research.
24:496-510.
2014
|
|
| 2014
|
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nature Genetics.
46:989-993.
2014
|
|
| 2014
|
Recurrent read-through fusion transcripts in breast cancer.
Breast Cancer Research and Treatment.
146:287-297.
2014
|
|
| 2013
|
G protein-linked signaling pathways in bipolar and major depressive disorders.
Frontiers in Genetics.
4.
2013
|
|
| 2013
|
Integrating and mining the chromatin landscape of cell-type specificity using self-organizing maps.
Genome Research.
23:2136-2148.
2013
|
|
| 2013
|
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics.
14:173-179.
2013
|
|
| 2013
|
Distinct properties of cell-type-specific and shared transcription factor binding sites.
Molecular Cell.
52:25-36.
2013
|
|
| 2013
|
Mapping genome-wide transcription factor binding sites in frozen tissues.
Epigenetics and Chromatin.
6.
2013
|
|
| 2013
|
Differential DNA methylation with age displays both common and dynamic features across human tissues that are influenced by CpG landscape.
Genome Biology.
14.
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nature Genetics.
45:984-994.
2013
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A neurodegeneration-specific gene-expression signature of acutely isolated microglia from an amyotrophic lateral sclerosis mouse model.
Cell Reports.
4:385-401.
2013
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The 'Red Queen' dilemma - Running to stay in the same place: Reflections on the evolutionary vector of HBV in humans.
Antiviral Therapy.
18:489-496.
2013
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Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study.
PLoS Medicine.
10.
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Dynamic DNA methylation across diverse human cell lines and tissues.
Genome Research.
23:555-567.
2013
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Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts.
PLoS Medicine.
10.
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Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex.
Journal of Psychiatric Research.
47:1215-1221.
2013
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David R. Cox 1946-2013..
Nature Genetics.
45:716.
2013
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Early de novo DNA methylation and prolonged demethylation in the muscle lineage.
Epigenetics.
8:317-332.
2013
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Glucocorticoid and mineralocorticoid receptor expression in the human hippocampus in major depressive disorder.
Journal of Psychiatric Research.
47:307-314.
2013
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Glutamate transporters: A key piece in the glutamate puzzle of major depressive disorder.
Journal of Psychiatric Research.
47:1150-1156.
2013
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Evidence for transcriptional factor dysregulation in the dorsal raphe nucleus of patients with major depressive disorder.
Frontiers in Neuroscience.
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Population stratiWcation may bias analysis of PGC-1α as a modiWer of age at Huntington disease motor onset.
Human Genetics.
131:1833-1840.
2012
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Theria-Specific Homeodomain and cis-Regulatory Element Evolution of the Dlx3-4 Bigene Cluster in 12 Different Mammalian Species.
Journal of Experimental Zoology Part B: Molecular and Developmental Evolution.
318:639-650.
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Genistein and bisphenol A exposure cause estrogen receptor 1 to bind thousands of sites in a cell type-specific manner.
Genome Research.
22:2153-2162.
2012
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| 2012
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Human-Specific Histone Methylation Signatures at Transcription Start Sites in Prefrontal Neurons.
PLoS Biology.
10.
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Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations.
PLoS One.
7.
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Assessment of cortical and striatal involvement in 523 Huntington disease brains.
Neurology.
79:1708-1715.
2012
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A validated regulatory network for Th17 cell specification.
Cell.
151:289-303.
2012
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Severe respiratory illness caused by a novel coronavirus, in a patient transferred to the United Kingdom from the Middle East, September 2012.
Eurosurveillance.
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Development of the Huntington disease work function scale.
Journal of Occupational and Environmental Medicine.
54:1300-1308.
2012
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Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
American Journal of Respiratory and Critical Care Medicine.
186:622-632.
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An integrated encyclopedia of DNA elements in the human genome.
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Architecture of the human regulatory network derived from ENCODE data.
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Functional analysis of transcription factor binding sites in human promoters.
Genome Biology.
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ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia.
Genome Research.
22:1813-1831.
2012
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Genetic architecture of variation in the lateral line sensory system of threespine sticklebacks
2012
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Phylodynamic and phylogeographic patterns of the HIV type 1 subtype F1 parenteral epidemic in Romania.
AIDS Research and Human Retroviruses.
28:961-966.
2012
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Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors.
Genome Research.
22:1798-1812.
2012
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The hypersensitive glucocorticoid response specifically regulates period 1 and expression of circadian genes.
Molecular and Cellular Biology.
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Widespread plasticity in CTCF occupancy linked to DNA methylation.
Genome Research.
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Genomic patterns of homozygosity in worldwide human populations.
American Journal of Human Genetics.
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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Biochemical and Biophysical Research Communications.
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8OHdG as a marker for Huntington disease progression.
Neurobiology of Disease.
46:625-634.
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Cognitive domains that predict time to diagnosis in prodromal Huntington disease.
Journal of Neurology, Neurosurgery and Psychiatry.
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Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation.
PLoS Genetics.
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Systematic evaluation of factors influencing ChIP-seq fidelity.
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Effects of sequence variation on differential allelic transcription factor occupancy and gene expression.
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Molecular epidemiology of human rhinovirus infections in Kilifi, coastal Kenya.
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Postmortem interval influences α-synuclein expression in Parkinson disease brain.
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The genomic basis of adaptive evolution in threespine sticklebacks.
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Dynamic microRNA gene transcription and processing during T cell development.
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Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
American Journal of Human Genetics.
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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Neurology.
78:690-695.
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Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database.
PLoS Genetics.
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Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2.
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Transposase mediated construction of RNA-seq libraries (Genome Research (2012) 22, (134-141)).
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Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene.
Genes and Cancer.
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Molecular epidemiology of a large community-based outbreak of hepatitis B in Bristol, UK.
Journal of Clinical Virology.
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Cancer cell proliferation is inhibited by specific modulation frequencies.
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A genome-wide SNP genotyping array reveals patterns of global and repeated species-pair divergence in sticklebacks.
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Evolutionary dynamics of local pandemic H1N1/2009 influenza virus lineages revealed by whole-genome analysis.
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Research resource: Enhanced genome-wide occupancy of estrogen receptor α by the cochaperone p23 in breast cancer cells
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Transposase mediated construction of RNA-seq libraries.
Genome Research.
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RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studies.
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Allele-specific distribution of RNA polymerase II On female X chromosomes.
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Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
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Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
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Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
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Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
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Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium.
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Analysis of dna methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.
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The genetic basis of divergent pigment patterns in juvenile threespine sticklebacks.
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Generation of isogenic pluripotent stem cells differing exclusively at two early onset parkinson point mutations.
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DNA methylation profiling reveals novel biomarkers and important roles for DNA methyltransferases in prostate cancer.
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Integrated genomic analyses of ovarian carcinoma.
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Altered expression of glutamate signaling, growth factor, and glia genes in the locus coeruleus of patients with major depression.
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Coffee, ADORA2A, and CYP1A2: The caffeine connection in Parkinson's disease.
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Investigating transmission of Mycobacterium bovis in the United Kingdom in 2005 to 2008.
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A user's guide to the Encyclopedia of DNA elements (ENCODE).
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Appearance of a novel measles G3 strain in multiple European countries within a two month period, 2010.
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Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: Results from the GenePD Study.
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Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
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Three residues in HIV-1 matrix contribute to protease inhibitor susceptibility and replication capacity.
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Pandemic (H1N1) 2009 influenza in the UK: Clinical and epidemiological findings from the first few hundred (FF100) cases.
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Education and personalized genomics: Deciphering the public's genetic health report.
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Evidence for three novel QTLs for adiposity on chromosome 2 with epistatic interactions: The NHLBI family heart study.
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Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
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Genomewide association study for onset age in Parkinson disease.
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Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.
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One step forward toward identification of the genetic signature of glioblastomas.
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Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
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The association of cell cycle checkpoint 2 variants and kidney function: Findings of the family blood pressure program and the atherosclerosis risk in communities study.
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A QTL on 12q Influencing an inflammation marker and obesity in white women: The NHLBI family heart study.
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A genome-wide association study of pulmonary function measures in the framingham heart study.
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NYD-SP18 is associated with obesity in the NHLBI Family Heart Study.
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Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD.
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Genome-wide admixture mapping for coronary artery calcification in African Americans: The NHLBI family heart study.
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Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels (PII:S0002-9297(07)60902-1).
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Circulating MCP-1 levels shows linkage to chemokine receptor gene cluster on chromosome 3: The NHLBI Family Heart Study follow-up examination.
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Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease.
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Sample matching by inferred agonal stress in gene expression analyses of the brain.
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HaploBuild: An algorithm to construct non-contiguous associated haplotypes in family based genetic studies.
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Integrated analysis of experimental data sets reveals many novel promoters in 1% of the human genome.
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Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions.
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| 2007
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Serum response factor binding sites differ in three human cell types.
Genome Research.
17:136-144.
2007
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Evidence of QTL on 15q21 for high-density lipoprotein cholesterol: The National Heart, Lung, and Blood Institute Family Heart Study (NHLBI FHS).
Atherosclerosis.
190:232-237.
2007
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| 2007
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Genotype-by-sex interaction on fasting insulin concentration: The HyperGEN study.
Diabetes.
56:137-142.
2007
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| 2007
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LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.
Canadian Journal of Neurological Sciences.
34:333-335.
2007
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Longitudinal and age trends of metabolic syndrome and its risk factors: The Family Heart Study.
Nutrition and Metabolism.
3.
2006
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Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD study.
Neurology.
67:2206-2210.
2006
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| 2006
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Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.
Neurobiology of Disease.
24:280-285.
2006
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| 2006
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tRNAs promote nuclear import of HIV-1 intracellular reverse transcription complexes.
PLoS Biology.
4:1689-1706.
2006
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Comparative genomics modeling of the NRSF/REST repressor network: From single conserved sites to genome-wide repertoire.
Genome Research.
16:1208-1221.
2006
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| 2006
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Genotype-by-sex interaction in the aetiology of type 2 diabetes mellitus: Support for sex-specific quantitative trait loci in Hypertension Genetic Epidemiology Network participants.
Diabetologia.
49:2329-2336.
2006
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| 2006
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Genetic analysis of the GRIK2 modifier effect in Huntington's disease.
BMC Neuroscience.
7.
2006
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Adrenergic receptor polymorphisms associated with resting heart rate: The HyperGEN study.
Annals of Human Genetics.
70:566-573.
2006
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Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: The HD MAPS study.
BMC Medical Genomics.
7.
2006
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| 2006
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Mitochondrial related gene expression changes are sensitive to agonal-pH state.
Molecular Psychiatry.
11:615.
2006
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Mitochondrial-related gene expression changes are sensitive to agonal-pH state: Implications for brain disorders.
Molecular Psychiatry.
11:663-679.
2006
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Erratum: Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling (Genome Research (2006) 16, (796-803)).
Genome Research.
16:947.
2006
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| 2006
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Assessment of automated genotyping protocols as tools for surveillance of HIV-1 genetic diversity.
AIDS.
20:1521-1529.
2006
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Influence of heterozygosity for Parkin mutation on onset age in familial parkinson disease: The genePD study.
JAMA Neurology.
63:826-832.
2006
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| 2006
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Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.
Human Molecular Genetics.
15:2015-2024.
2006
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| 2006
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Sequencing and analysis of 10,967 full-length cDNA clones from Xenopus laevis and Xenopus tropicalis reveals post-tetraploidization transcriptome remodeling.
Genome Research.
16:796-803.
2006
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| 2006
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Application of microarray technology in primate behavioral neuroscience research.
ImmunoMethods.
38:227-234.
2006
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| 2006
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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 Program.
BMC Medical Genomics.
7.
2006
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| 2006
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Quantitative trait loci on chromosome 8q24 for pancreatic β-cell function and 7q11 for insulin sensitivity in obese nondiabetic white and black families: Evidence from genome-wide linkage scans in the NHLBI Hypertension Genetic Epidemiology Network (HyperGEN) study.
Diabetes.
55:551-558.
2006
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| 2006
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Comprehensive analysis of transcriptional promoter structure and function in 1% of the human genome.
Genome Research.
16:1-10.
2006
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| 2006
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Considerations for genomewide association studies in Parkinson disease [1].
American Journal of Human Genetics.
78:1081-1082.
2006
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Genotyping hepatitis B virus from whole- and sub-genomic fragments using position-specific scoring matrices in HBV STAR.
Journal of General Virology.
87:1459-1464.
2006
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| 2006
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Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study.
Lancet Neurology.
5:917-923.
2006
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Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data.
Nucleic Acids Research.
33.
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BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
Neurology.
65:1823-1825.
2005
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| 2005
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HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
Human Molecular Genetics.
14:2871-2880.
2005
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| 2005
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A statistical model for HIV-1 sequence classification using the subtype analyser (STAR).
Bioinformatics.
21:3535-3540.
2005
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| 2005
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Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
Movement Disorders.
20:1188-1191.
2005
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| 2005
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A haplotype similarity based transmission/disequilibrium test under founder heterogeneity.
Annals of Human Genetics.
69:455-467.
2005
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Direct isolation and identification of promoters in the human genome.
Genome Research.
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2005
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Monozygotic twins discordant for Huntington disease after 7 years.
JAMA Neurology.
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2005
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Variability and conservation in hepatitis B virus core protein.
BMC Microbiology.
5.
2005
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Sensitization of stefin B-deficient thymocytes towards staurosporin-induced apoptosis is independent of cysteine cathepsins.
FEBS Letters.
579:2149-2155.
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Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Nature.
434:724-731.
2005
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| 2005
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An evaluation of the metabolic syndrome in the HyperGEN study.
Nutrition and Metabolism.
2.
2005
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Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels.
American Journal of Human Genetics.
77:64-77.
2005
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| 2005
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Quantitative trait loci for metabolic syndrome in the hypertension genetic epidemiology network study.
Obesity.
13:1885-1890.
2005
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The sequence and analysis of duplication-rich human chromosome 16.
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432:988-994.
2004
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Coelacanth genome sequence reveals the evolutionary history of vertebrate genes.
Genome Research.
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2004
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Evidence and consequence of porcine endogenous retrovirus recombination.
Journal of Virology.
78:13880-13890.
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The DNA sequence and comparative analysis of human chromosome 5.
Nature.
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Genome-wide linkage analyses for age at diagnosis of hypertension and early-onset hypertension in the HyperGEN study.
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2004
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The master sex-determination locus in threespine sticklebacks is on a nascent Y chromosome.
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2004
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| 2004
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Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
Neurogenetics.
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2004
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Quality assessment of the human genome sequence.
Nature.
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2004
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Diverse and Specific Gene Expression Responses to Stresses in Cultured Human Cells.
Molecular Biology of the Cell.
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2004
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Huntington's Disease Genetics.
Neurotherapeutics.
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2004
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Lack of Evidence for An Association between WNT2 and RELN Polymorphisms and Auitism.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
126 B:51-57.
2004
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| 2004
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The DNA sequence and biology of human chromosome 19.
Nature.
428:529-535.
2004
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Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions.
Human Molecular Genetics.
13:609-616.
2004
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| 2004
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Genome-Wide Scan Identifies Novel QTLs for Cholesterol and LDL Levels in F2[Dahl RxS] Intercross Rats.
Circulation Research.
94:446-452.
2004
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Gene conversion and the evolution of protocadherin gene cluster diversity.
Genome Research.
14:354-366.
2004
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The Role of Heat Shock Transcription Factor 1 in the Genome-wide Regulation of the Mammalian Heat Shock Response.
Molecular Biology of the Cell.
15:1254-1261.
2004
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| 2004
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Transcriptional regulation and binding of heat shock factor 1 and heat shock factor 2 to 32 human heat shock genes during thermal stress and differentiation.
Cell Stress and Chaperones.
9:21-28.
2004
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| 2004
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Effect of agonal and postmortem factors on gene expression profile: Quality control in microarray analyses of postmortem human brain.
Biological Psychiatry.
55:346-352.
2004
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Gender-Specific Gene Expression in Post-Mortem Human Brain: Localization to Sex Chromosomes.
Neuropsychopharmacology.
29:373-384.
2004
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| 2004
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Selective Disruption of Lysosomes in HeLa Cells Triggers Apoptosis Mediated by Cleavage of Bid by Multiple Papain-like Lysosomal Cathepsins.
Journal of Biological Chemistry.
279:3578-3587.
2004
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| 2004
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An abundance of bidirectional promoters in the human genome.
Genome Research.
14:62-66.
2004
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| 2004
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Apolipoprotein E polymorphism modifies the alcohol-HDL association observed in the National Heart, Lung, and Blood Institute Family Heart Study.
American Journal of Clinical Nutrition.
80:1639-1644.
2004
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| 2004
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Assembly of DNA sequencing data..
Methods in Molecular Biology.
255:319-332.
2004
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| 2004
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Common variants in the 5′ region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study.
American Journal of Human Genetics.
75:220-230.
2004
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| 2004
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Development of a novel human immunodeficiency virus type 1 subtyping tool, subtype analyzer (STAR): Analysis of subtype distribution in London.
AIDS Research and Human Retroviruses.
20:457-464.
2004
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| 2004
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Linkage analysis of diabetes status among hypertensive families: The hypertension genetc epidemiology network study.
Diabetes.
53:3307-3312.
2004
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| 2004
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Quality assessment of finished BAC sequences..
Methods in Molecular Biology.
255:343-349.
2004
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Sequence finishing..
Methods in Molecular Biology.
255:333-342.
2004
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The status, quality, and expansion of the NIH full-length cDNA project: The Mammalian Gene Collection (MGC).
Genome Research.
14:2121-2127.
2004
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| 2003
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A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study.
Neurology.
61:1557-1561.
2003
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| 2003
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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1).
Cell Death and Differentiation.
10:1329-1335.
2003
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A genome-wide scan for loci affecting normal adult height in the Framingham Heart Study
2003
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Linkage Analysis of a Composite Factor for the Multiple Metabolic Syndrome: The National Heart, Lung, and Blood Institute Family Heart Study.
Diabetes.
52:2840-2847.
2003
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| 2003
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Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study.
Human Molecular Genetics.
12:2745-2751.
2003
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| 2003
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A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
American Journal of Human Genetics.
73:682-687.
2003
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| 2003
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Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1).
Developmental Neurobiology.
56:315-327.
2003
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| 2003
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Identification of promoter regions in the human genome by using a retroviral plasmid library-based functional reporter gene assay.
Genome Research.
13:1765-1774.
2003
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| 2003
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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
American Journal of Medical Genetics Part A.
119 A:279-282.
2003
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| 2003
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A Genome-Wide Scan of Pulmonary Function Measures in the National Heart, Lung, and Blood Institute Family Heart Study.
American Journal of Respiratory and Critical Care Medicine.
167:1528-1533.
2003
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| 2003
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A note of caution on correlation between sibling pairs [6] (multiple letters).
Neurology.
60:1561.
2003
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A genome scan for loci linked to quantitative insulin traits in persons without diabetes: The Framingham Offspring Study.
Diabetologia.
46:579-587.
2003
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| 2003
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Microarray technology: A review of new strategies to discover candidate vulnerability genes in psychiatric disorders.
American Journal of Psychiatry.
160:657-666.
2003
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| 2003
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Predictors of nursing home placement in Huntington disease.
Neurology.
60:998-1001.
2003
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| 2003
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Combined analysis of genomewide scans for adult height: Results from the NHLBI family blood pressure program.
European Journal of Human Genetics.
11:271-274.
2003
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| 2003
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Extensive linkage disequilibrium, a common 16.7-kilobase deletion, and evidence of balancing selection in the human protocadherin α cluster.
American Journal of Human Genetics.
72:621-635.
2003
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| 2003
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Genomewide linkage analysis to presbycusis in the Framingham Heart Study.
JAMA Otolaryngology-Head and Neck Surgery.
129:285-289.
2003
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| 2003
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Identification and functional analysis of human transcriptional promoters.
Genome Research.
13:308-312.
2003
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| 2003
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DNA microarray analysis of functionally discrete human brain regions reveals divergent transcriptional profiles.
Neurobiology of Disease.
14:240-250.
2003
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| 2003
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Molecular diagnosis of unherited movement disorders. Movement disorders society task force on molecular diagnosis.
Movement Disorders.
18:3-18.
2003
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| 2003
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Rabbit endogenous retrovirus-H encodes a functional protease.
Journal of General Virology.
84:215-225.
2003
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| 2002
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Is DFNA5 a susceptibility gene for age-related hearing impairment?.
European Journal of Human Genetics.
10:883-886.
2002
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| 2002
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Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease.
Journal of Neuropathology and Experimental Neurology.
61:1085-1091.
2002
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| 2002
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Rapid mapping of zebrafish mutations with SNPs and oligonucleotide microarrays.
Genome Research.
12:1929-1934.
2002
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| 2002
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Weight loss in early stage of Huntington's disease.
Neurology.
59:1325-1330.
2002
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| 2002
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Mapping of quantitative ultrasound of the calcaneus bone to chromosome 1 by genome-wide linkage analysis.
Osteoporosis International.
13:796-802.
2002
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| 2002
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A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study.
Human Genetics.
111:263-269.
2002
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| 2002
|
Evidence for a gene influencing heart rate on chromosome 4 among hypertensives.
Human Genetics.
111:207-213.
2002
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| 2002
|
Segregation analysis of Parkinson disease revealing evidence for a major causative gene.
American Journal of Medical Genetics Part A.
109:191-197.
2002
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| 2002
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Genome scan for quantity of hand osteoarthritis: The Framingham Study.
Arthritis and Rheumatism.
46:946-952.
2002
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| 2002
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Genetic loci influencing lung function: A genomewide scan in the Framingham Study.
American Journal of Respiratory and Critical Care Medicine.
165:795-799.
2002
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| 2002
|
Behavioral phenotypic variation in autism multiplex families: Evidence for a continuous severity gradient.
American Journal of Medical Genetics Part A.
114:129-136.
2002
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| 2002
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Absence of linkage or association for osteoarthritis with the vitamin D receptor/type II collagen locus: The Framingham Osteoarthritis Study.
Journal of Rheumatology.
29:161-165.
2002
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| 2002
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Epidemiologic study of 203 sibling pairs with Parkinson's disease: The GenePD study.
Neurology.
58:79-84.
2002
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| 2002
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Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.
American Journal of Medical Genetics Part A.
114:24-30.
2002
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| 2002
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A genome-wide scan for loci linked to plasma levels of glucose and HbA1c in a community-based sample of Caucasian pedigrees: The Framingham Offspring Study.
Diabetes.
51:833-840.
2002
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| 2002
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Candidate-gene approaches for studying complex genetic traits: Practical considerations.
Nature Reviews Genetics.
3:391-397.
2002
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| 2002
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Genetic variability of adult body mass index: A longitudinal assessment in Framingham families.
Obesity.
10:675-681.
2002
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| 2002
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Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: The Framingham study.
Journal of Bone and Mineral Research.
17:1718-1727.
2002
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| 2002
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PARK3 influences age at onset in Parkinson disease: A genome scan in the GenePD study.
American Journal of Human Genetics.
70:1089-1095.
2002
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| 2002
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Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study.
American Journal of Human Genetics.
70:72-82.
2002
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| 2001
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Empirical Modelling of Genetic Algorithms.
Evolutionary Computation.
9:461-493.
2001
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| 2001
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Heritability of longitudinal change in lung function: The Framingham study.
American Journal of Respiratory and Critical Care Medicine.
164:1655-1659.
2001
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| 2001
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Birth Order Effects on Nonverbal IQ Scores in Autism Multiplex Families.
Journal of Autism and Developmental Disorders.
31:449-460.
2001
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| 2001
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Juvenile onset Huntington's disease - Clinical and research perspectives.
Developmental Disabilities Research Reviews.
7:153-157.
2001
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| 2001
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Genome-wide scan for Parkinson's disease: The GenePD study.
Neurology.
57:1124-1126.
2001
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| 2001
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Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.
Human Molecular Genetics.
10:1867-1871.
2001
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| 2001
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Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)).
Nature.
412:565-566.
2001
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| 2001
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A dose-ranging study to evaluate the antiretroviral activity and safety of amprenavir alone and in combination with abacavir in HIV-infected adults with limited antiretroviral experience.
Antiviral Therapy.
6:89-96.
2001
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| 2001
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Genetic and environmental contributions to platelet aggregation: The Framingham Heart Study.
Circulation.
103:3051-3056.
2001
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| 2001
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Comparative DNA sequence analysis of mouse and human protocadherin gene clusters [3].
Genome Research.
11:389-404.
2001
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| 2001
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A physical map of the human genome.
Nature.
409:934-941.
2001
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| 2001
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Association of plasma bilirubin with coronary heart disease and segregation of bilirubin as a major gene trait: The NHLBI family heart study.
Atherosclerosis.
154:747-754.
2001
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| 2001
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Initial sequencing and analysis of the human genome.
Nature.
409:860-921.
2001
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| 2001
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Genome scan for quantitative trait loci linked to high-density lipoprotein cholesterol: The NHLBI Family Heart Study
2001
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| 2001
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Genome-wide linkage analysis of lipids in the hypertension genetic epidemiology network (HyperGEN) blood pressure study
2001
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| 2001
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Interaction of α1-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension.
Hypertension.
38:204-209.
2001
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| 2001
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Least-commitment graph matching with genetic algorithms.
Pattern Recognition.
34:375-394.
2001
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| 2001
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Quantitative neuropathological changes in presymptomatic Huntington's disease.
Annals of Neurology.
49:29-34.
2001
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| 2001
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The effect of isolated soy protein on plasma biomarkers in elderly men with elevated serum prostate specific antigen.
Investigative urology.
165:294-300.
2001
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| 2000
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Absence of linkage for bone mineral density to chromosome 12q12-14 in the region of the vitamin D receptor gene.
Calcified Tissue International.
67:434-439.
2000
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| 2000
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HIV type 1 protease cleavage site mutations and viral fitness: Implications for drug susceptibility phenotyping assays.
AIDS Research and Human Retroviruses.
16:1149-1156.
2000
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| 2000
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Genetic background of Lewis negative blood group phenotype and its association with atherosclerotic disease in the NHLBI Family Heart Study.
Journal of Internal Medicine.
247:689-698.
2000
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| 2000
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Evidence for major genes influencing pulmonary function in the NHLBI Family Heart Study.
Genetic Epidemiology.
19:81-94.
2000
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| 2000
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Bayesian graph edit distance.
IEEE Transactions on Pattern Analysis and Machine Intelligence.
22:628-635.
2000
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| 2000
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Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: A genome-wide scan in the Framingham Study.
Human Molecular Genetics.
9:1315-1320.
2000
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| 2000
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Segregation analysis of serum uric acid in the NHLBI Family Heart Study.
Human Genetics.
106:355-359.
2000
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| 2000
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Insulin and hypertension in the NHLBI family heart study.
American Journal of Hypertension.
13:240-250.
2000
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| 2000
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Rate of functional decline in Huntington's disease.
Neurology.
54:452-458.
2000
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| 2000
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Convergence of a hill-climbing genetic algorithm for graph matching.
Pattern Recognition.
33:1863-1880.
2000
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| 2000
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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 Study.
Hypertension.
36:477-483.
2000
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| 2000
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Genetic algorithms for ambiguous labelling problems.
Pattern Recognition.
33:685-704.
2000
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| 2000
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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 Study
2000
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| 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 study
2000
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| 2000
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Resistance to the HIV protease inhibitor amprenavir in vitro and in clinical studies: A review.
Clinical Drug Investigation.
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2000
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| 2000
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Smoking influences the association between apolipoprotein E and lipids: The National Heart, Lung, and Blood Institute Family Heart Study.
Lipids.
35:827-831.
2000
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| 1999
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Environmental, medical, and family history risk factors for Parkinson's disease: A new England-based case control study.
American Journal of Medical Genetics Part A.
88:742-749.
1999
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| 1999
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Absence of effect of seven functional mutations in the CYP2D6 gene in Parkinson's disease.
Movement Disorders.
14:590-595.
1999
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| 1999
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Parental age at child's birth and son's risk of prostate cancer. The Framingham Study.
American Journal of Epidemiology.
150:1208-1212.
1999
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| 1999
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Effects of similarities in lifestyle habits on familial aggregation of high density lipoprotein and low density lipoprotein cholesterol: The NHLBI Family Heart Study.
American Journal of Epidemiology.
150:910-918.
1999
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| 1999
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Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
American Journal of Medical Genetics Part A.
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1999
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| 1999
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Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
Neurology.
53:1330-1332.
1999
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| 1999
|
A putative Drosophila homolog of the Huntington's disease gene.
Human Molecular Genetics.
8:1807-1815.
1999
|
|
| 1999
|
Evidence for a major gene accounting for mild elevation in LDL cholesterol: The NHLBI Family Heart Study.
Annals of Human Genetics.
63:401-412.
1999
|
|
| 1999
|
Evaluation of biomarker modulation by fenretinide in prostate cancer patients.
European 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 mice.
Human Molecular Genetics.
8:763-774.
1999
|
|
| 1999
|
A genomic screen of autism: Evidence for a multilocus etiology.
American Journal of Human Genetics.
65:493-507.
1999
|
|
| 1999
|
Exclusion of linkage to the HLA region in ninety multiplex sibships with autism.
Journal of Autism and Developmental Disorders.
29:195-201.
1999
|
|
| 1999
|
Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.
Human Molecular Genetics.
8:839-846.
1999
|
|
| 1999
|
Increased platelet aggregability associated with platelet GPIIIa Pl(A2) polymorphism: The Framingham offspring study
1999
|
|
| 1999
|
The molecular genetic bases of the progressive myoclonus epilepsies..
Advances in neurology.
79:383-398.
1999
|
|
| 1998
|
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.
Nature Genetics.
20:251-258.
1998
|
|
| 1998
|
Characterization of the Huntington's disease (HD) gene homolog in the zebrafish Danio rerio.
Gene.
217:117-125.
1998
|
|
| 1998
|
β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia
1998
|
|
| 1998
|
Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: The Framingham Study.
Arthritis 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 Study.
Circulation.
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
|
1H NMR spectroscopy studies of Huntington's disease. Correlations with CAG repeat numbers.
Neurology.
50:1357-1365.
1998
|
|
| 1998
|
Angiotensinogen and angiotensin converting enzyme genotypes and carotid atherosclerosis: The atherosclerosis risk in communities and the NHLBI family heart studies.
Atherosclerosis.
138:111-116.
1998
|
|
| 1998
|
On the pathological progression of Huntington's disease [1] (multiple letters).
Annals of Neurology.
44:148.
1998
|
|
| 1998
|
Segregation analysis of pulmonary function among families in the framingham study.
American Journal of Respiratory and Critical Care Medicine.
157:1445-1451.
1998
|
|
| 1997
|
Gastrogenomic delights: A movable feast.
Nature Medicine.
3:1076-1078.
1997
|
|
| 1997
|
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: A meta-analysis.
Journal 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 cancer.
Genomics.
44:163-170.
1997
|
|
| 1997
|
The BsmI vitamin D receptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral density.
Journal of Bone and Mineral Research.
12:1049-1057.
1997
|
|
| 1997
|
Long-term impact of Huntington disease linkage testing.
American Journal of Medical Genetics Part A.
70:365-370.
1997
|
|
| 1997
|
CAG repeat number governs the development rate of pathology in huntington's disease.
Annals of Neurology.
41:689-692.
1997
|
|
| 1997
|
An STS-based radiation hybrid map of the human genome.
Genome Research.
7:422-433.
1997
|
|
| 1997
|
Genetic algorithm parameter sets for line labelling.
Pattern Recognition Letters.
18:1363-1371.
1997
|
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| 1997
|
Heritability of left ventricular mass: The Framingham Heart Study.
Hypertension.
30:1025-1028.
1997
|
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| 1997
|
High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.
Genome Research.
7:820-829.
1997
|
|
| 1997
|
Reduced penetrance of the Huntington's disease mutation.
Human Molecular Genetics.
6:775-779.
1997
|
|
| 1997
|
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Nature Genetics.
15:393-396.
1997
|
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| 1996
|
Human immunodeficiency virus: Mutations in the viral protease that confer resistance to saquinavir increase the dissociation rate constant of the protease-saquinavir complex.
Journal of Biological Chemistry.
271:33231-33235.
1996
|
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| 1996
|
Evidence of cortical metabolic dysfunction in early Huntington's disease by single -photon-emission computed tomography.
Movement 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 kb
1996
|
|
| 1996
|
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.
American Journal of Human Genetics.
58:1247-1253.
1996
|
|
| 1996
|
Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136 → Ser) variant in multigenerational pedigree studies.
Atherosclerosis.
122:33-46.
1996
|
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| 1996
|
Absence of association or genetic linkage between the angiotensin-converting-enzyme gene and left ventricular mass.
New England Journal of Medicine.
334:1023-1028.
1996
|
|
| 1996
|
A map to the future.
Nature Genetics.
12:117-118.
1996
|
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| 1996
|
Apolipoprotein E ∈4 association with dementia in a population-based study: The Framingham Study.
Neurology.
46:673-677.
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 gene.
Genome Research.
6:218-225.
1996
|
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| 1996
|
Genomes and evolution.
Current Opinion in Genetics and Development.
6:683-685.
1996
|
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| 1996
|
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.
Nature Medicine.
2:347-350.
1996
|
|
| 1996
|
Isolation and characterization of the mouse cystatin B gene.
Genome Research.
6:1103-1109.
1996
|
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| 1996
|
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt- Jakob disease.
Neurology.
47:1305-1312.
1996
|
|
| 1996
|
The end of the beginning: the race to begin human genome sequencing..
Genome Research.
6:771-772.
1996
|
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| 1995
|
Statement on use of apolipoprotein E testing for Alzheimer disease.
Journal of the American Medical Association.
274:1627-1629.
1995
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| 1995
|
Evidence from antibody studies that the CAG repeat in the huntington disease gene is expressed in the protein.
Human Molecular Genetics.
4:465-469.
1995
|
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| 1995
|
A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation.
Nature Genetics.
11:126-129.
1995
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| 1995
|
Cross-resistance analysis of human immunodeficiency virus type 1 variants individually selected for resistance to five different protease inhibitors.
Antimicrobial Agents and Chemotherapy.
39:1704-1710.
1995
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| 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 protease.
Journal of Virology.
69:5228-5235.
1995
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| 1994
|
Localization of the α2-Macroglobulin Receptor-Associated Protein 1 Gene (LRPAP1) and Other Gene Fragments to Human Chromosome 4p16.3 by Direct cDNA Selection.
Genomics.
24:410-413.
1994
|
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| 1994
|
A high resolution physical map of 2.5 Mbp of the down syndrome region on chromosome 21.
Human Molecular Genetics.
3:1811-1817.
1994
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| 1994
|
A transcript map of the down syndrome critical region on chromosome 21.
Human Molecular Genetics.
3:1735-1742.
1994
|
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| 1994
|
Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.
Human Molecular Genetics.
3:1611-1616.
1994
|
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| 1994
|
Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4.
Human Molecular Genetics.
3:243-246.
1994
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| 1994
|
A clinical genetic study of parkinson’s disease: Evidence for dominant transmission.
Neurology.
44:499-506.
1994
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| 1994
|
Apolipoprotein E Alleles, Dyslipidemia, and Coronary Heart Disease: The Framingham Offspring Study.
Journal of the American Medical Association.
272:1666-1671.
1994
|
|
| 1994
|
Huntington’s disease cag trinucleotide repeats in pathologically confirmed post-mortem brains.
Neurobiology of Disease.
1:159-166.
1994
|
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| 1994
|
Neocortical Dendritic Pathology in Human Partial Epilepsy: A Quantitative Golgi Study.
Epilepsia.
35:728-736.
1994
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| 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 cells.
Molecular Pharmacology.
45:402-409.
1994
|
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| 1994
|
Report of the third international workshop on human chromosome 4 mapping 1993.
Cytogenetic and Genome Research.
66:217-230.
1994
|
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| 1993
|
The development of sequence-tagged sites for human chromosome 4.
Human Molecular Genetics.
2:1271-1288.
1993
|
|
| 1993
|
Construction of cosmid contigs and high-resolution restriction mapping of the huntington disease region of human chromosome 4.
Human Molecular Genetics.
2:889-899.
1993
|
|
| 1993
|
Sensitivity of HincW to CpG methylation.
Nucleic Acids Research.
21:2021.
1993
|
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| 1993
|
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
Cell.
72:971-983.
1993
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| 1993
|
A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Weidemann and associated embryonal tumor disease loci.
American Journal of Human Genetics.
52:915-921.
1993
|
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| 1993
|
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.
Nature Genetics.
5:168-173.
1993
|
|
| 1993
|
Discrepancy resolved.
Nature Genetics.
5:215.
1993
|
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| 1993
|
Discrimination among potential activators of the β-globin CACCC element by correlation of binding and transcriptional properties.
Molecular and Cellular Biology.
13:44-56.
1993
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| 1993
|
Evidence for neuronal degeneration and dendritic plasticity in cortical pyramidal neurons of huntington's disease: A quantitative golgi study.
Neurology.
43:2088-2096.
1993
|
|
| 1993
|
Gametic but not somatic instability of CAG repeat length in Huntington's disease.
Journal of Medical Genetics.
30:982-986.
1993
|
|
| 1993
|
Identification and characterization of a β-globin promoter-binding factor from murine erythroleukemia cells.
Molecular 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
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|
| 1993
|
Report of a workshop on the application of molecular genetics to the study of mutation in the children of atomic bomb survivors.
Mutation Research - Environmental Mutagenesis and Related Subjects Including Methodology.
291:1-20.
1993
|
|
| 1993
|
Segregation analysis for high density lipoprotein in the berkeley data.
Genetic Epidemiology.
10:629-634.
1993
|
|
| 1993
|
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
American Journal of Human Genetics.
53:125-130.
1993
|
|
| 1993
|
Trinucleotide repeat length instability and age of onset in Huntington's disease.
Nature Genetics.
4:387-392.
1993
|
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| 1992
|
Improved sequencing of cosmids using new primers and linearized DNA.
Nucleic Acids Research.
20:6421-6422.
1992
|
|
| 1992
|
Cloning of the huntington disease region in yeast artificial chromosomes.
Human Molecular Genetics.
1:149-159.
1992
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|
| 1992
|
Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigree.
Human Genetics.
88:562-568.
1992
|
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| 1992
|
A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus.
Genomics.
14:574-584.
1992
|
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| 1992
|
A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA
1992
|
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| 1992
|
Bridging the gaps.
Current Biology.
2:338-339.
1992
|
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| 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
|
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| 1992
|
Evidence of presymptomatic cognitive decline in Huntington's disease.
Journal of Clinical and Experimental Neuropsychology.
14:961-975.
1992
|
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| 1992
|
Familial lipoprotein disorders in patients with premature coronary artery disease.
Circulation.
85:2025-2033.
1992
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| 1992
|
Family patterns of coronary heart disease mortality: The Framingham Longevity Study.
Journal of Clinical Epidemiology.
45:169-174.
1992
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| 1992
|
Identification and molecular cloning of a neuropeptide y homolog that produces prolonged inhibition in aplysia neurons.
Neuron.
9:505-513.
1992
|
|
| 1992
|
Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting.
American Journal of Human Genetics.
50:528-535.
1992
|
|
| 1992
|
Kynurenine pathway abnormalities in Parkinson's disease.
Neurology.
42:1702-1706.
1992
|
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| 1992
|
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
American 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
|
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| 1992
|
The Huntington's disease candidate region exhibits many different haplotypes.
Nature Genetics.
1:99-103.
1992
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| 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 loci.
American Journal of Human Genetics.
49:1189-1196.
1991
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| 1991
|
Dinucleotide repeat polymorphism located at D4S169.
Nucleic Acids Research.
19:6347.
1991
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| 1991
|
Taql RFLP at D21S137.
Nucleic Acids Research.
19:4020.
1991
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| 1991
|
Segregation analysis reveals evidence of a major gene for Alzheimer disease.
American Journal of Human Genetics.
48:1026-1033.
1991
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| 1991
|
Identification of polymorphisms by genomic denaturing gradient gel electrophoresis: Application to the proximal region of human chromosome 21.
Nucleic Acids Research.
19:1475-1481.
1991
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| 1991
|
A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis.
Genomics.
9:19-30.
1991
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| 1991
|
Cerebral amyloid angiopathy without and with cerebral hemorrhages: A comparative histological study.
Annals of Neurology.
30:637-649.
1991
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| 1991
|
Decreased neuronal and increased oligodendroglial densities in huntington’s disease caudate nucleus.
Journal of Neuropathology and Experimental Neurology.
50:729-742.
1991
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| 1991
|
Estimation of morbid risk and age at onset with missing information.
American Journal of Human Genetics.
49:76-87.
1991
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| 1991
|
Factors Associated With Slow Progression in Huntington's Disease.
JAMA Neurology.
48:800-804.
1991
|
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| 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 disease.
Neurology.
41:1117-1123.
1991
|
|
| 1991
|
Physical mapping of yeast artificial chromosomes containing sequences from the human β-globin gene region.
Genomics.
10:976-984.
1991
|
|
| 1991
|
Understanding the decision to take the predictive test for Huntington disease.
American Journal of Medical Genetics Part A.
39:404-410.
1991
|
|
| 1990
|
Dinucleotide repeat polymorphism located at D21S120.
Nucleic Acids Research.
18:6754.
1990
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| 1990
|
A directly repeated sequence in the β-globin promoter regulates transcription in murine erythroleukemia cells.
Molecular and Cellular Biology.
10:972-981.
1990
|
|
| 1990
|
Analysis of the site in CD4 that binds to the HIV envelope glycoprotein.
Journal of Immunology.
144:3078-3086.
1990
|
|
| 1990
|
Estimation of familial risk in Alzheimer's disease.
Annals of Neurology.
27:338-340.
1990
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|
| 1990
|
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.
Nature.
347:194-197.
1990
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| 1990
|
Multiple sclerosis sibling pairs: Clustered onset and familial predisposition.
Neurology.
40:1546-1552.
1990
|
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| 1990
|
Non-hydrophobic extracytoplasmic determinant of stop transfer in the prion protein.
Nature.
343:669-672.
1990
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| 1990
|
Parental history is an independent risk factor for coronary artery disease: The Framingham Study.
American Heart Journal.
120:963-969.
1990
|
|
| 1990
|
Reply.
Annals of Neurology.
27:340-341.
1990
|
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| 1990
|
Structure and variability of human chromosome ends.
Molecular and Cellular Biology.
10:518-527.
1990
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| 1990
|
Transmission and age-at-onset patterns in familial alzheimer’s disease: Evidence for heterogeneity.
Neurology.
40:395-403.
1990
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| 1989
|
Coronary risk associated with age and sex of parental heart disease in the Framingham Study.
American Journal of Cardiology.
64:555-559.
1989
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| 1989
|
Methylation at the Huntington disease-linked D4S95 locus..
American Journal of Human Genetics.
45:335-336.
1989
|
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| 1989
|
Assessment of genetic risk for alzheimer's disease among first‐degree relatives.
Annals of Neurology.
25:485-493.
1989
|
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| 1989
|
Authors' response to commentaries.
Neurobiology of Aging.
10:446-448.
1989
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| 1989
|
Clustering of multiallele DNA markers near the Huntington's disease gene.
Journal of Clinical Investigation.
84:1013-1016.
1989
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| 1989
|
Estimation of fertility and fitness in Huntington disease in New England.
American Journal of Medical Genetics Part A.
33:248-254.
1989
|
|
| 1989
|
Familial Alzheimer's disease: Progress and problems.
Neurobiology of Aging.
10:417-425.
1989
|
|
| 1989
|
Homozygote for Huntington disease.
American Journal of Human Genetics.
45:615-618.
1989
|
|
| 1989
|
Huntington disease: No evidence for locus heterogeneity.
Genomics.
5:304-308.
1989
|
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| 1989
|
Isolation and field-inversion gel electrophoresis analysis of DNA markers located close to the Huntington disease gene.
Genomics.
4:408-418.
1989
|
|
| 1989
|
Molecular Genetics of Familial Alzheimer's Disease.
Canadian Journal of Neurological Sciences.
16:465-467.
1989
|
|
| 1989
|
Molecular genetics of familial alzheimer’s disease.
European Neurology.
29:25-27.
1989
|
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| 1989
|
Phenotypic variation in 2 huntington’s disease families with linkage to chromosome 4.
Neurology.
39:1332-1336.
1989
|
|
| 1989
|
Segregation of the Huntington disease region of human chromosome 4 in a somatic cell hybrid.
Genomics.
4:397-407.
1989
|
|
| 1989
|
Using survival methods to estimate age-at-onset distributions for genetic diseases with an application to Huntington disease.
Genetic Epidemiology.
6:361-371.
1989
|
|
| 1988
|
Predictive Testing for Huntington's Disease Using Linked DNA Markers.
New England Journal of Medicine.
319:583-584.
1988
|
|
| 1988
|
Predictive Testing for Huntingtons Disease with Use of a Linked DNA Marker.
New England Journal of Medicine.
318:535-542.
1988
|
|
| 1988
|
Clinical and neuropathologic assessment of severity in huntington’s disease.
Neurology.
38:341-347.
1988
|
|
| 1988
|
Considerations in using linkage analysis as a presymptomatic test for Huntington's disease.
Journal of Medical Genetics.
25:577-588.
1988
|
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| 1988
|
DNA sequences involved in transcriptional regulation of the mouse β-globin promoter in murine erythroleukemia cells.
Molecular and Cellular Biology.
8:3122-3128.
1988
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| 1987
|
Alterations in DNA helix stability due to base modifications can be evaluated using denaturing gradient gel electrophoresis.
Journal of Molecular Biology.
198:737-744.
1987
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| 1987
|
Attitudes toward presymptomatic testing in Huntington disease.
American Journal of Medical Genetics Part A.
26:271-282.
1987
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| 1987
|
Detection and Localization of Single Base Changes by Denaturing Gradient Gel Electrophoresis.
Methods in Enzymology.
155:501-527.
1987
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| 1987
|
Search for the familial Alzheimer's disease gene..
Journal of neural transmission. Supplementum.
24:13-21.
1987
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| 1986
|
Change in attitudes toward presymptomatic testing in Huntington disease.
American Journal of Medical Genetics Part A.
24:369-371.
1986
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| 1986
|
Recent advances in the development of methods for detecting single-base substitutions associated with human genetic diseases
1986
|
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| 1985
|
Detection of single base substitutions in total genomic DNA.
Nature.
313:495-498.
1985
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| 1985
|
Maternal factors in onset of Huntington disease.
American Journal of Human Genetics.
37:511-523.
1985
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| 1985
|
Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis.
Nucleic Acids Research.
13:3111-3129.
1985
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| 1985
|
Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis.
Nucleic Acids Research.
13:3131-3145.
1985
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| 1985
|
Late onset of Huntington's disease.
Journal of Neurology, Neurosurgery and Psychiatry.
48:530-534.
1985
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|
| 1985
|
Neuropathological classification of huntington’s disease.
Journal of Neuropathology and Experimental Neurology.
44:559-577.
1985
|
|
| 1984
|
Increased rate of suicide among patients with Huntington's disease.
Journal of Neurology, Neurosurgery and Psychiatry.
47:1283-1287.
1984
|
|
| 1984
|
Mutational analysis of simian virus 40 large T antigen DNA binding sites.
1984
|
|
| 1984
|
Potential impact of a predictive test on the gene frequency of Huntington disease.
American Journal of Medical Genetics Part A.
18:423-429.
1984
|
|
| 1983
|
MATERNAL TRANSMISSION IN HUNTINGTON'S DISEASE
1983
|
|
| 1983
|
Huntington's disease in monozygotic twins reared apart.
Journal of Medical Genetics.
20:408-411.
1983
|
|
| 1982
|
False-Negative Results with Levodopa for Early Detection of Huntington's Disease.
New England Journal of Medicine.
307:561-562.
1982
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|
| 1982
|
Alzheimer's Disease, Down's Syndrome, and Aging: The Genetic Approach.
Annals of the New York Academy of Sciences.
396:3-13.
1982
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|
| 1982
|
Factors related to onset age of Huntington disease.
American 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 DNA.
Journal of Molecular Biology.
148:347-353.
1981
|
|
| 1981
|
SV40 gene expression is modulated by the cooperative binding of T antigen to DNA.
Cell.
25:373-384.
1981
|
|
| 1980
|
Characteristics of a Gibbon-Siamang hybrid ape.
International Journal of Primatology.
1:203-221.
1980
|
|
| 1979
|
Quantification of muscle tremor of Huntington's disease patients and their offspring in an early detection study.
Biological Psychiatry.
14:777-789.
1979
|
|
| 1977
|
Learned aversions to intracerebral carbachol.
Physiology and Behavior.
19:467-472.
1977
|
|
