Search filters

List of works by Nicholas J. Schork

5-HT₁A receptor binding is increased after recovery from bulimia nervosa compared to control women and is associated with behavioral inhibition in both groups

scientific article

A 25-y longitudinal dolphin cohort supports that long-lived individuals in same environment exhibit variation in aging rates

scientific article published on 10 August 2020

A Genomic-Systems Biology Map for Cardiovascular Function ⬇️

scientific article published on November 23, 2001

A Method for Inferring an Individual's Genetic Ancestry and Degree of Admixture Associated with Six Major Continental Populations

scientific article published on January 2012

A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations

scholarly article

A comprehensive literature review of haplotyping software and methods for use with unrelated individuals

scientific article

A covering method for detecting genetic associations between rare variants and common phenotypes

scientific article

A genetic determinant that specifically regulates the frequency of hematopoietic stem cells

scientific article published in January 2002

A genome sequencing program for novel undiagnosed diseases.

scientific article

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa ⬇️

scientific article published on November 16, 2010

A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans

scientific article published on 01 February 2003

A genomewide scan of male sexual orientation

scientific article

A geographic cline of skull and brain morphology among individuals of European Ancestry

scientific article

A high resolution case study of a patient with recurrent Plasmodium vivax infections shows that relapses were caused by meiotic siblings.

scientific article

A loop-counting method for covariate-corrected low-rank biclustering of gene-expression and genome-wide association study data.

scientific article published on 14 May 2018

A new framework marker-based linkage map and SDPs for the rat HXB/BXH strain set.

scientific article

A pharmacological network for lifespan extension in Caenorhabditis elegans

scientific article

A polymorphism of the beta1-adrenergic receptor is associated with low extraversion

scientific article

A simulation-based analysis of chromosome segment sharing among a group of arbitrarily related individuals

scientific article published on 15 August 2007

A weighted polygenic risk score using 14 known susceptibility variants to estimate risk and age onset of psoriasis in Han Chinese

scientific article published on May 2015

Abnormal auditory N100 amplitude: a heritable endophenotype in first-degree relatives of schizophrenia probands

scientific article

Accelerating the Drug Delivery Pipeline for Acute and Chronic Pancreatitis: Summary of the Working Group on Drug Development and Trials in Recurrent Acute Pancreatitis at the National Institute of Diabetes and Digestive and Kidney Diseases Workshop

article

Accommodating linkage disequilibrium in genetic-association analyses via ridge regression

scientific article published on February 2008

Accommodating pathway information in expression quantitative trait locus analysis

scientific article published on 9 May 2007

Accurate detection and genotyping of SNPs utilizing population sequencing data

scientific article

Accurate prediction of deleterious protein kinase polymorphisms

scientific article published on 12 September 2007

Adherence to Smoking Cessation Medications Among Clickotine® Users

Admixture and clinical phenotypic variation

scientific article

Admixture mapping as a gene discovery approach for complex human traits and diseases

scientific article

Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosis.

scientific article published on 10 September 2009

Adrenergic polymorphism and the human stress response

scientific article published on December 2008

Advances in endophenotyping schizophrenia

scientific article

Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages

scientific article

All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

scientific article

Alpha-adducin polymorphism associated with increased risk of adverse cardiovascular outcomes: results from GENEtic Substudy of the INternational VErapamil SR-trandolapril STudy (INVEST-GENES).

scientific article published on 20 June 2008

Altered DNA methylation in leukocytes with trisomy 21

scientific article

An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension

scientific article

An application and empirical comparison of statistical analysis methods for associating rare variants to a complex phenotype ⬇️

scientific article published on January 1, 2011

An assessment of the individual and collective effects of variants on height using twins and a developmentally informative study design

scientific article

An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP)

scientific article published on 20 March 2007

An investigation of indirect effects of personality features on anorexia nervosa severity through interoceptive dysfunction in individuals with lifetime anorexia nervosa diagnoses

scientific article published on 12 January 2019

Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia

scientific article

Analysis of variability in high throughput screening data: applications to melanoma cell lines and drug responses

scientific article

Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial

scientific article published on October 2007

Annotating individual human genomes

scientific article

Antisaccade performance in schizophrenia patients, their first-degree biological relatives, and community comparison subjects: data from the COGS study

scientific article

Anxiety is related to indices of cortical maturation in typically developing children and adolescents

scientific article published on 17 July 2015

Artificial Intelligence and Personalized Medicine.

scientific article published in January 2019

Artificial intelligence and machine learning in clinical development: a translational perspective

scientific article published on 26 July 2019

Assessing group differences in biodiversity by simultaneously testing a user-defined selection of diversity indices

scientific article

Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R.

scientific article published in August 2005

Association Between Improvement in Baseline Mood and Long-Term Use of a Mindfulness and Meditation App: Observational Study

scientific article published on 08 May 2019

Association and ancestry analysis of sequence variants in ADH and ALDH using alcohol-related phenotypes in a Native American community sample

scientific article

Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort

scientific article

Association between traumatic brain injury and risk of posttraumatic stress disorder in active-duty Marines

scientific article

Association of candidate genes with phenotypic traits relevant to anorexia nervosa

scientific article published on 21 July 2011

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans

scientific article published on 16 February 2012

Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity

scientific article

Association of direct-to-consumer genome-wide disease risk estimates and self-reported disease

scientific article published on 29 November 2011

Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia

scientific article

Association study of 182 candidate genes in anorexia nervosa

scientific article

Autonomic function in hypertension; role of genetic variation at the catecholamine storage vesicle protein chromogranin B

scientific article

Background gene expression networks significantly enhance drug response prediction by transcriptional profiling ⬇️

scientific article published on August 9, 2011

Biogenesis of the secretory granule: chromogranin A coiled-coil structure results in unusual physical properties and suggests a mechanism for granule core condensation

scientific article

Blood-based gene expression signatures of infants and toddlers with autism

scientific article published on 02 August 2012

Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology

scientific article

C-reactive protein, an 'intermediate phenotype' for inflammation: human twin studies reveal heritability, association with blood pressure and the metabolic syndrome, and the influence of common polymorphism at catecholaminergic/beta-adrenergic pathw

scientific article published in February 2007

CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cells

scientific article

COMT polymorphisms and anxiety-related personality traits

scientific article

Cancer Diagnosis, Polygenic Risk, and Longevity-Associated Variants

scientific article published on 22 September 2020

Cancer driver mutations in protein kinase genes

scientific article

Candidate SNP associations of optimism and resilience in older adults: exploratory study of 935 community-dwelling adults

scientific article

Catapulting clopidogrel pharmacogenomics forward ⬇️

scientific article published on January 1, 2011

Catecholamine release-inhibitory peptide catestatin (chromogranin A(352-372)): naturally occurring amino acid variant Gly364Ser causes profound changes in human autonomic activity and alters risk for hypertension

scientific article published on 16 April 2007

Cell type discovery and representation in the era of high-content single cell phenotyping.

scientific article published on 21 December 2017

Characteristics of genomic test consumers who spontaneously share results with their health care provider

scientific article published on 05 February 2013

Characterization of circulating endothelial cells in acute myocardial infarction

scientific article published on March 2012

Characterization of genetic variation in the VGLL4 gene in anorexia nervosa

scientific article

Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects

scientific article published on 09 February 2014

Chromogranin A polymorphisms are associated with hypertensive renal disease.

scientific article published on 30 January 2008

Circulating tumor DNA as an early cancer detection tool

scientific article published on 18 December 2019

Clickotine, A Personalized Smartphone App for Smoking Cessation: Initial Evaluation.

scientific article

Clinical implications of human population differences in genome-wide rates of functional genotypes

scientific article

Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia.

scientific article

Cohort Profile: the international childhood cardiovascular cohort (i3C) consortium

scientific article published on 20 March 2012

Combinatorial interactions of genetic variants in human cardiomyopathy

scientific article published on 07 February 2019

Common genetic mechanisms of blood pressure elevation in two independent rodent models of human essential hypertension

scientific article

Common susceptibility variants are shared between schizophrenia and psoriasis in the Han Chinese population

scientific article published on 18 April 2016

Common variants explain a large fraction of the variability in the liability to psoriasis in a Han Chinese population

scientific article published on 30 January 2014

Common vs. rare allele hypotheses for complex diseases

scientific article

Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation

scientific article

Comparison of genetic distance measures using human SNP genotype data

scientific article

Comparison of phasing strategies for whole human genomes.

scientific article

Complex patterns of genomic admixture within southern Africa

scientific article

Comprehensive analysis of treatment response phenotypes in rheumatoid arthritis for pharmacogenetic studies

scientific article

Comprehensive linkage and linkage heterogeneity analysis of 4344 sibling pairs affected with hypertension from the Family Blood Pressure Program.

scientific article published on April 2007

Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.

scientific article

Congenital disease SNPs target lineage specific structural elements in protein kinases

scholarly article

Conservation of Distinct Genetically-Mediated Human Cortical Pattern

scientific article

Conserved Genomic Terminals of SARS-CoV-2 as Co-evolving Functional Elements and Potential Therapeutic Targets

scientific article published on 06 July 2020

Conserved Genomic Terminals of SARS-CoV-2 as Coevolving Functional Elements and Potential Therapeutic Targets

scientific article

Consumer perceptions of direct-to-consumer personalized genomic risk assessments

scientific article published in September 2010

Contemporary human genetic strategies in aging research

scientific article

Convergent functional genomics of anxiety disorders: translational identification of genes, biomarkers, pathways and mechanisms ⬇️

scientific article published on May 24, 2011

Correlates of the estimated arterial compliance in the population of Tecumseh, Michigan

scientific article published on May 1, 1992

Correlation analysis of genetic admixture and social identification with body mass index in a Native American community.

scientific article

Cross-Species and Human Inter-Tissue Network Analysis of Genes Implicated in Longevity and Aging Reveal Strong Support for Nutrient Sensing

scientific article published on 27 August 2021

Curve-based multivariate distance matrix regression analysis: application to genetic association analyses involving repeated measures

scientific article

DCAF4, a novel gene associated with leucocyte telomere length

scientific article

DNA sequence-based phenotypic association analysis

scientific article published in January 2008

DNA variation and brain region-specific expression profiles exhibit different relationships between inbred mouse strains: implications for eQTL mapping studies.

scientific article published on January 2007

Deconstructing schizophrenia: an overview of the use of endophenotypes in order to understand a complex disorder

scientific article published on 6 November 2006

Dental caries pathogenicity: a genomic and metagenomic perspective

scientific article published in August 2011

Detecting genetic variation in microarray expression data

scientific article

Detecting significant genotype-phenotype association rules in bipolar disorder: market research meets complex genetics

article

Detection of genetic heterogeneity for complex quantitative phenotypes

scientific article published on January 1, 1992

Digital medicine and the Scripps Translational Science Institute

scientific article

Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence

scientific article

Direct-to-consumer personalized genomic testing

scientific article

Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation.

scientific article published on 16 December 2013

Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk

scientific article

Distribution analysis of nonsynonymous polymorphisms within the human kinase gene family.

scientific article published on 11 May 2007

Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children

scientific article

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Ectopic B-cell clusters that infiltrate transplanted human kidneys are clonal

scientific article

Effect of direct-to-consumer genomewide profiling to assess disease risk

scientific article

Effect of home blood pressure and gender on estimates of the familial aggregation of blood pressure. The Tecumseh Blood Pressure Study

scientific article published on September 1, 1992

Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing

scientific article published on 30 March 2018

Effects of Ketanserin on Blood Pressure and Platelet Aggregation in Elderly Men with Mild Hypertension ⬇️

scientific article published on 01 July 1988

Efficient and cost effective population resequencing by pooling and in-solution hybridization

scientific article

Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder

scientific article published on 29 November 2018

Endophenotyping schizophrenia

scientific article published on 01 May 2007

Environmental and genetic contributions to indicators of oral malodor in twins

scientific article published in December 2011

Epigenomic Diversity in a Global Collection of Arabidopsis thaliana Accessions

scientific article published on July 2016

Ethnicity and human genetic linkage maps

scientific article

Evaluation of linkage disequilibrium between chromosome 22q11 single nucleotide polymorphisms in a large outbred population

scientific article

Evaluation of next generation sequencing platforms for population targeted sequencing studies

scientific article published on 27 March 2009

Evidence for a heritable unidimensional symptom factor underlying obsessionality

scientific article published in September 2008

Evidence for association of bipolar disorder to haplotypes in the 22q12.3 region near the genes stargazin, IFT27 and parvalbumin

scientific article published on 4 October 2012

Evidence of a contribution of genetic factors to dental caries risk ⬇️

scientific article published on December 1, 2003

Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas

scholarly article by Alexandra R Buckley published in September 2018

Expression levels of insulin-like growth factors 1 and 2 in head and neck squamous cell carcinoma

scientific article

Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease

scientific article

FTO influences on longitudinal BMI over childhood and adulthood and modulation on relationship between birth weight and longitudinal BMI ⬇️

scientific article published on September 2, 2010

Family income, parental education and brain structure in children and adolescents

scientific article published on 30 March 2015

Fine mapping and subphenotyping implicates ADRA1B gene variants in psoriasis susceptibility in a Chinese population

scientific article published on 20 February 2019

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

scientific article

Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins

scientific article published on 14 September 2004

Functional expression of dental plaque microbiota.

scientific article

Further evidence for association of GRK3 to bipolar disorder suggests a second disease mutation

scientific article published in December 2007

G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactions

scientific article published on January 2009

GENETIC SUPPORT FOR INTERVENTIONS THOUGHT TO PROMOTE HEALTHY AGING

scholarly article in Innovation in Aging, vol. 3, Suppl 1, November 2019

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

scientific article

Gene expression analysis of head and neck squamous cell carcinoma survival and recurrence

scientific article

Gene expression in mouse brain following chronic hypoxia: role of sarcospan in glial cell death

scientific article

Gene expression profiling of human whole blood samples with the Illumina WG-DASL assay

scientific article

Gene mapping via the ancestral recombination graph

scientific article published in September 2002

Gene-by-environment (serotonin transporter and childhood maltreatment) interaction for anxiety sensitivity, an intermediate phenotype for anxiety disorders

scientific article

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

scientific article published on 17 December 2013

Generalized analysis of molecular variance

scientific article

Generalized genomic distance-based regression methodology for multilocus association analysis

scientific article

Genetic Support for Longevity-Enhancing Drug Targets: Issues, Preliminary Data, and Future Directions

scientific article published on 01 November 2019

Genetic association of recovery from eating disorders: the role of GABA receptor SNPs

scientific article

Genetic implication of a novel thiamine transporter in human hypertension

scientific article

Genetic parts to a preventive medicine whole ⬇️

scientific article published on June 27, 2013

Genetic profiling using genome-wide significant coronary artery disease risk variants does not improve the prediction of subclinical atherosclerosis: the Cardiovascular Risk in Young Finns Study, the Bogalusa Heart Study and the Health 2000 Survey--

scientific article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genetic risks and clinical rewards

scientific article published on 01 September 2018

Genetic signature of human longevity in PKC and NF-κB signaling

scientific article published on 01 July 2021

Genetic structure of community acquired methicillin-resistant Staphylococcus aureus USA300

scientific article

Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies

scientific article

Genetic variants and blood pressure in a population-based cohort: the Cardiovascular Risk in Young Finns study

scientific article published on 24 October 2011

Genetic variation at the human alpha2B-adrenergic receptor locus: role in blood pressure variation and yohimbine response

scientific article

Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans

scientific article published on 07 January 2008

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

scientific article published in November 2018

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations

scientific article

Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology

scientific article

Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes

scientific journal article

Genome-wide association study identifies 30 loci associated with bipolar disorder.

scientific article

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

scientific article

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

scientific article

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

article

Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study

scientific article published on 26 April 2017

Genome-wide association study of age at menarche in African-American women

scientific article published on 17 April 2013

Genome-wide association study of paliperidone efficacy

scientific article

Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples

scientific article

Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia

scientific article

Genome-wide linkage analysis of chromogranin B expression in the CEPH pedigrees: implications for exocytotic sympathochromaffin secretion in humans

scientific article

Genome-wide linkage scans for fasting glucose, insulin, and insulin resistance in the National Heart, Lung, and Blood Institute Family Blood Pressure Program: evidence of linkages to chromosome 7q36 and 19q13 from meta-analysis

scientific article published in March 2005

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

scientific article

Genome-wide significant association between a 'negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1.

scientific article published on 25 September 2012

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees.

scientific article published on November 2002

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

Genomic information as a behavioral health intervention: can it work?

scientific article

Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene

scientific article

Genomic risk models improve prediction of longitudinal lipid levels in children and young adults

scientific article published on 21 May 2013

Genomics for disease treatment and prevention

scientific article

Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population

scientific article

Genotype-based risk and pharmacogenetic sampling in clinical trials

scientific article

Genotypic and phenotypic evaluation of the evolution of high-level daptomycin nonsusceptibility in vancomycin-resistant Enterococcus faecium

scientific article published on 4 September 2012

Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects

scientific article

Grand challenges in statistical genetics/genomics methodology ⬇️

scientific article

Group and site differences on the California Verbal Learning Test in persons with schizophrenia and their first-degree relatives: findings from the Consortium on the Genetics of Schizophrenia (COGS).

scientific article published in February 2011

Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies

scientific article published on 22 September 2015

Gut Microbiome-Based Metagenomic Signature for Non-invasive Detection of Advanced Fibrosis in Human Nonalcoholic Fatty Liver Disease

scientific article published on May 2017

Gut Microbiome-Based Metagenomic Signature for Non-invasive Detection of Advanced Fibrosis in Human Nonalcoholic Fatty Liver Disease

scientific article published on 01 September 2019

Heredity of endothelin secretion: human twin studies reveal the influence of polymorphism at the chromogranin A locus, a novel determinant of endothelial function

scientific article published on 16 April 2007

Heritability and clinical features of multigenerational families with obsessive-compulsive disorder and hoarding.

scientific article published in March 2007

Heritability estimates for dental caries and sucrose sweetness preference

scientific article published on 28 August 2006

Heritability of Hepatic Fibrosis and Steatosis Based on a Prospective Twin Study

scientific article

Heritability of nonalcoholic fatty liver disease

scientific article

Heritability of oral microbial species in caries-active and caries-free twins

scientific article

Histopathology of pediatric nonalcoholic fatty liver disease.

scientific article

Human behavioral informatics in genetic studies of neuropsychiatric disease: multivariate profile-based analysis

scientific article

Human dopamine beta-hydroxylase (DBH) regulatory polymorphism that influences enzymatic activity, autonomic function, and blood pressure

scientific article

Human genetic variation and its contribution to complex traits

scientific article (publication date: April 2009)

Human haplotype block sizes are negatively correlated with recombination rates

scientific article published on July 2004

Human heart rate: heritability of resting and stress values in twin pairs, and influence of genetic variation in the adrenergic pathway at a microribonucleic acid (microrna) motif in the 3'-UTR of cytochrome b561 [corrected]

scientific article published on 16 October 2013

Human response to alpha2-adrenergic agonist stimulation studied in an isolated vascular bed in vivo: Biphasic influence of dose, age, gender, and receptor genotype

scientific article published in May 2005

Human sympathetic activation by alpha2-adrenergic blockade with yohimbine: Bimodal, epistatic influence of cytochrome P450-mediated drug metabolism

scientific article

Hyperkinetic borderline hypertension in Tecumseh, Michigan ⬇️

scientific article published on 01 January 1991

Identification of ALK as a major familial neuroblastoma predisposition gene

scientific article

Identification of EpCAM as the gene for congenital tufting enteropathy

scientific article

Identification of hypertension-related QTLs in African American sib pairs

scientific article published on 01 November 2002

Identification of novel loci affecting circulating chromogranins and related peptides.

scientific article

Identification of polymorphisms associated with hypertriglyceridemia and prolonged survival induced by bexarotene in treating non-small cell lung cancer

scientific article published on June 1, 2011

Identification of quantitative trait Loci for anxiety and locomotion phenotypes in rat recombinant inbred strains

scientific article

Identification of rare cancer driver mutations by network reconstruction

scientific article published on 02 July 2009

Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping

scientific article published on January 2004

Identifying treatment options for BRAFV600 wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial

scientific article published on 07 April 2021

Impact of ancestry and common genetic variants on QT interval in African Americans

scientific article

Impact of direct-to-consumer genomic testing at long term follow-up

scientific article published on 4 April 2013

Impacts of personal DNA ancestry testing

scientific article published on 13 August 2020

Improved methods for RNAseq-based alternative splicing analysis

scientific article published on 24 May 2021

In silico QTL mapping of basal liver iron levels in inbred mouse strains

scientific article

Influence of genetic polymorphisms on the effect of high- and standard-dose clopidogrel after percutaneous coronary intervention: the GIFT (Genotype Information and Functional Testing) study

scientific article published in May 2012

Influences of FTO gene on onset age of adult overweight

scientific article

Inherent bias toward the null hypothesis in conventional multipoint nonparametric linkage analysis.

scientific article

Inhibition of the P50 cerebral evoked response to repeated auditory stimuli: results from the Consortium on Genetics of Schizophrenia

scientific article published on 10 April 2010

Initial heritability analyses of endophenotypic measures for schizophrenia: the consortium on the genetics of schizophrenia

scientific article

Interaction between serotonin transporter and dopamine D2/D3 receptor radioligand measures is associated with harm avoidant symptoms in anorexia and bulimia nervosa

scientific article

Interactive effects of common beta2-adrenoceptor haplotypes and age on susceptibility to hypertension and receptor function

scientific article published on 18 July 2005

KCNMB1 genotype influences response to verapamil SR and adverse outcomes in the INternational VErapamil SR/Trandolapril STudy (INVEST)

scientific article published on September 2007

Kinase mutations in human disease: interpreting genotype-phenotype relationships

scientific article

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

scientific article published on 23 July 2007

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Large-scale genomics unveil polygenic architecture of human cortical surface area

scientific article published on 20 July 2015

Large-scale integration of human genetic and physical maps

scientific article

Linking genes and environmental exposure: why China presents special opportunities

scientific article published on May 1, 1997

Loci influencing blood pressure identified using a cardiovascular gene-centric array

scientific article published on 8 January 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

scientific article

Long-term influence of normal variation in neonatal characteristics on human brain development

scientific article

Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study

scientific journal article

Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism

scientific article

Longitudinal replication studies of GWAS risk SNPs influencing body mass index over the course of childhood and adulthood

scientific article

Mechanisms of linezolid resistance among coagulase-negative staphylococci determined by whole-genome sequencing

scientific article

Mechanisms underlying hypoxia tolerance in Drosophila melanogaster: hairy as a metabolic switch

scientific article

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Methods for handling multiple testing

scientific article published on January 2008

Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC).

scientific article

MicroRNA-22 and promoter motif polymorphisms at the Chga locus in genetic hypertension: functional and therapeutic implications for gene expression and the pathogenesis of hypertension.

scientific article published on 13 May 2013

Mindscape: a convergent perspective on life, mind, consciousness and happiness

scientific article published on June 2010

Mission Critical: The Need for Proteomics in the Era of Next-Generation Sequencing and Precision Medicine

scientific article

Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults

scientific article

Mitochondrial DNA sequence associations with dementia and amyloid-β in elderly African Americans

scientific article

Mixed-methods quantitative-qualitative study of 29 nonagenarians and centenarians in rural Southern Italy: focus on positive psychological traits

scientific article published on 12 December 2017

Modeling the 3D geometry of the cortical surface with genetic ancestry

scientific article published on 9 July 2015

Molecular Mechanism for Hypertensive Renal Disease: Differential Regulation of Chromogranin A Expression at 3'-Untranslated Region Polymorphism C+87T by MicroRNA-107

scientific article published on 12 November 2014

Multi-Omic Biological Age Estimation and Its Correlation With Wellness and Disease Phenotypes: A Longitudinal Study of 3,558 Individuals

scientific article published on 01 November 2019

Multi-site studies of acoustic startle and prepulse inhibition in humans: initial experience and methodological considerations based on studies by the Consortium on the Genetics of Schizophrenia

scientific article

Multicenter validation of the diagnostic accuracy of a blood-based gene expression test for assessing obstructive coronary artery disease in nondiabetic patients

scientific article published on October 2010

Multimodal imaging of the self-regulating developing brain

scientific article

Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans

scientific article

Multivariate regression analysis of distance matrices for testing associations between gene expression patterns and related variables

scholarly article

Natural variation within the neuronal nicotinic acetylcholine receptor cluster on human chromosome 15q24: influence on heritable autonomic traits in twin pairs

scientific article published on 11 August 2009

Naturally occurring human genetic variation in the 3'-untranslated region of the secretory protein chromogranin A is associated with autonomic blood pressure regulation and hypertension in a sex-dependent fashion.

scientific article

Network Rewiring in Cancer: Applications to Melanoma Cell Lines and the Cancer Genome Atlas Patients

scientific article published on 10 July 2018

Neuroendocrine transcriptome in genetic hypertension: multiple changes in diverse adrenal physiological systems

scientific article published in June 2004

Neuropeptide Y (NPY): genetic variation in the human promoter alters glucocorticoid signaling, yielding increased NPY secretion and stress responses

scientific article published on 26 September 2012

Nonalcoholic fatty liver disease with cirrhosis increases familial risk for advanced fibrosis

scientific article published on 19 June 2017

Noncoding transcription within the Igh distal V(H) region at PAIR elements affects the 3D structure of the Igh locus in pro-B cells

scientific article

Nonlinear mixed effects dose response modeling in high throughput drug screens: application to melanoma cell line analysis

scientific article published on 15 December 2017

Normalizing sleep quality disturbed by psychiatric polypharmacy: a single patient open trial (SPOT).

scientific article published on 03 February 2016

Not so lost in the genetic crowd

scientific article published on 01 November 2009

Novel link between gut-microbiome derived metabolite and shared gene-effects with hepatic steatosis and fibrosis in NAFLD.

scientific article published on 23 March 2018

Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts

scientific article

Optimizing Aggregated N-Of-1 Trial Designs for Predictive Biomarker Validation: Statistical Methods and Theoretical Findings

scientific article published on 28 August 2020

PRODUCTION OF A PRELIMINARY QUALITY CONTROL PIPELINE FOR SINGLE NUCLEI RNA-SEQ AND ITS APPLICATION IN THE ANALYSIS OF CELL TYPE DIVERSITY OF POST-MORTEM HUMAN BRAIN NEOCORTEX.

scientific article published on January 2016

Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls

scientific article

Partial Least Squares Regression Can Aid in Detecting Differential Abundance of Multiple Features in Sets of Metagenomic Samples

scientific article

Pathway analysis of seven common diseases assessed by genome-wide association

scientific article published on 16 September 2008

Pathway and network analysis with high-density allelic association data

scientific article

Patient perspectives on whole-genome sequencing for undiagnosed diseases.

scientific article

Patterns of population epigenomic diversity.

scientific article published on 6 March 2013

Pentadecanoic Acid (C15:0), an Essential Fatty Acid, Shares Clinically Relevant Cell-Based Activities with Leading Longevity-Enhancing Compounds

Pentadecanoic Acid (C15:0), an Essential Fatty Acid, Shares Clinically Relevant Cell-Based Activities with Leading Longevity-Enhancing Compounds

Personalized medicine: Time for one-person trials

scientific article

Personalized medicine: motivation, challenges, and progress

scientific article published on 01 June 2018

PhenoChipping of psychotic disorders: a novel approach for deconstructing and quantitating psychiatric phenotypes

scientific article published on 01 September 2006

Pleiotropic effects of novel trans-acting loci influencing human sympathochromaffin secretion.

scientific article published on 22 March 2006

Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study

scientific article

Population-based sample reveals gene-gender interactions in blood pressure in White Americans

scientific article

Power and Design Issues in Crossover-Based N-Of-1 Clinical Trials with Fixed Data Collection Periods

scientific article published on 02 July 2019

Power calculations for genetic association studies using estimated probability distributions

scientific article published on 25 April 2002

Powerful designs for genetic association studies that consider twins and sibling pairs with discordant genotypes.

scientific article published in November 2007

Predicting functional regulatory polymorphisms

scientific article published on 18 June 2008

Prediction of cancer driver mutations in protein kinases

scientific article

Predictors of risk and resilience for posttraumatic stress disorder among ground combat Marines: methods of the Marine Resiliency Study.

scientific article

Preprocessing and Quality Control Strategies for Illumina DASL Assay-Based Brain Gene Expression Studies with Semi-Degraded Samples

scientific article published on 24 February 2012

Prestige centrality-based functional outlier detection in gene expression analysis

scientific article

Progression of chronic kidney disease: Adrenergic genetic influence on glomerular filtration rate decline in hypertensive nephrosclerosis.

scientific article

Protective variant associated with alcohol dependence in a Mexican American cohort.

scientific article

RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways

scientific journal article

Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans.

scientific article published on 5 May 2006

Randomized clinical trials and personalized medicine: A commentary on deaton and cartwright.

scientific article

Rare variant phasing using paired tumor:normal sequence data

Rare variants in neuronal excitability genes influence risk for bipolar disorder

scientific article

Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphism.

scientific article published on 12 March 2007

Report: NIA workshop on translating genetic variants associated with longevity into drug targets

scientific article published on 29 October 2018

Rho kinase polymorphism influences blood pressure and systemic vascular resistance in human twins: role of heredity

scientific article published on 3 April 2006

S78. Towards Precision Medicine for Mood Disorders: New Diagnostics and Therapeutics for Depression and Mania

scholarly article

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

scientific article

Segregation analysis of blood pressure and body mass index in a rural US community

scientific article published on 01 February 2002

Sequence and structure signatures of cancer mutation hotspots in protein kinases

scientific article

Sex-dependent association of common variants of microcephaly genes with brain structure

scientific article

Shared genetic effects between hepatic steatosis and fibrosis: A prospective twin study ⬇️

scientific article published on 17 June 2016

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

Simulation-based homozygosity mapping with the GAW14 COGA dataset on alcoholism

scientific article published on 30 December 2005

Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit

scientific article published on April 2007

Single-Subject Studies in Translational Nutrition Research.

scientific article

Single-nucleus and single-cell transcriptomes compared in matched cortical cell types

scientific article published in PLoS ONE

Skewed primary Igκ repertoire and V-J joining in C57BL/6 mice: implications for recombination accessibility and receptor editing.

scientific article published on 27 January 2012

Standard- vs high-dose clopidogrel based on platelet function testing after percutaneous coronary intervention: the GRAVITAS randomized trial

scientific article published on March 2011

Statistical analysis strategies for association studies involving rare variants

scientific article published on 13 October 2010

Statistical genetics concepts and approaches in schizophrenia and related neuropsychiatric research.

scientific article published on 11 October 2006

Statistical properties of multivariate distance matrix regression for high-dimensional data analysis

scientific article

Strategies and methods to study sex differences in cardiovascular structure and function: a guide for basic scientists

scientific article published on 12 December 2011

Strategies for testing intervention matching schemes in cancer

scientific article published on 14 June 2020

Successful aging: from phenotype to genotype

scientific article

Successful multi-site measurement of antisaccade performance deficits in schizophrenia

scientific article published on 3 October 2006

Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder

scientific article published on April 2006

Suggestive evidence for linkage of ADHD features in bipolar disorder to chromosome 10p14.

scientific article published in January 2010

Suggestive linkage of a chromosomal locus on 18p11 to cyclothymic temperament in bipolar disorder families

scientific article published on April 2008

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease

article

THE LONGEVITY CONSORTIUM VISION

scholarly article in Innovation in Aging, vol. 3, Suppl 1, November 2019

The Combined Effect of Common Genetic Risk Variants on Circulating Lipoproteins Is Evident in Childhood: A Longitudinal Analysis of the Cardiovascular Risk in Young Finns Study

scientific article published on 5 January 2016

The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaboration

scientific article

The Minnesota Center for Twin and Family Research genome-wide association study

scientific article published on December 2012

The NIH Toolbox Cognition Battery: results from a large normative developmental sample (PING).

scientific article

The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository

scientific article

The VA Hypertension Primary Care Longitudinal Cohort: Electronic medical records in the post-genomic era.

scientific article

The big data revolution and human genetics

scientific article published on 01 May 2018

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

scientific article

The dental plaque microbiome in health and disease

scientific article

The effects of globin on microarray-based gene expression analysis of mouse blood

scientific article

The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program

scientific article

The importance of phase information for human genomics

scientific article published on 08 February 2011

The n-of-1 clinical trial: the ultimate strategy for individualizing medicine?

scientific article published on March 2011

The next phase in human genetics

article

The relative importance of genetics and environment on mammographic density

scientific article published in January 2009

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Tic symptom profiles in subjects with Tourette Syndrome from two genetically isolated populations

scientific article published on 11 April 2006

Transcriptomic and morphophysiological evidence for a specialized human cortical GABAergic cell type

scientific article published on 27 August 2018

Transcriptomic evidence that von Economo neurons are regionally specialized extratelencephalic-projecting excitatory neurons

scientific article published on 03 March 2020

Transcriptomic evidence that von Economo neurons are regionally specialized extratelencephalic-projecting excitatory neurons

scientific article published in 2019

Transgenerational epigenetic instability is a source of novel methylation variants

scientific article

Treatment responses to tooth whitening in twins

scientific article

Tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis: discovery of common human genetic variants governing transcription, autonomic activity, and blood pressure in vivo

scientific article published on 13 August 2007

Using single nuclei for RNA-seq to capture the transcriptome of postmortem neurons

scientific article

Utility of network integrity methods in therapeutic target identification

scientific article published on 3 February 2014

Variants Near CCK Receptors are Associated With Electrophysiological Responses to Pre-pulse Startle Stimuli in a Mexican American Cohort.

scientific article

Verbal working memory impairments in individuals with schizophrenia and their first-degree relatives: findings from the Consortium on the Genetics of Schizophrenia

scientific article published on 11 April 2008

Weighted Score Tests Implementing Model-Averaging Schemes in Detection of Rare Variants in Case-Control Studies

scientific article published on 5 October 2015

White coat hypertension: a follow-up

scientific article published on January 1, 1992

Whole genome sequence association and ancestry-informed polygenic profile of EEG alpha in a Native American population.

scientific article

Whole genome sequences of a male and female supercentenarian, ages greater than 114 years

scientific article published on January 2011

Whole genome sequencing analysis of Plasmodium vivax using whole genome capture

scientific article

Whole-genome mutational burden analysis of three pluripotency induction methods.

scientific article published on 19 February 2016

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

scientific article published on 6 March 2017

p53-Dependent DNA damage response sensitive to editing-defective tRNA synthetase in zebrafish

scientific article published on 08 July 2016

signatureSearch: environment for gene expression signature searching and functional interpretation

scientific article published on 17 October 2020

Paulina is supported by:

About Paulina

Help