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List of works by Nancy J Cox

2456: Genetic determinants of recovery after mild traumatic brain injury: Can study samples be identified from electronic medical records linked to DNA biobanks?

A 48-hour exposure of pancreatic islets to calpain inhibitors impairs mitochondrial fuel metabolism and the exocytosis of insulin

scientific article published in May 2003

A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data

article

A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2.

scientific article published on 27 April 2007

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

scientific article (publication date: September 2013)

A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk

scientific article published on 09 September 2020

A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance

scientific article

A gene-based association method for mapping traits using reference transcriptome data

scientific article

A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity.

scientific article

A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose

scientific article

A genome-wide association study of breast cancer in women of African ancestry

scientific article published on 25 August 2012

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303

scientific journal article

A genome-wide integrative study of microRNAs in human liver

scientific article

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

scientific article

A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13

scientific article published on June 2015

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis

scientific article published on 6 January 2015

A pharmacogene database enhanced by the 1000 Genomes Project

scientific article published on October 2009

A retrospective approach to evaluating potential adverse outcomes associated with delay of procedures for cardiovascular and cancer-related diagnoses in the context of COVID-19

scientific article published on 09 December 2020

A second-generation genomewide screen for asthma-susceptibility alleles in a founder population

scientific article

A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus

scientific article published in July 1998

A statistical method for identification of polymorphisms that explain a linkage result

scientific article published on 08 January 2002

A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci

scientific article

A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis

scientific article published on 05 October 2020

A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology

scientific article published on 12 February 2016

A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene

scientific article

APOE ε4-specific associations of VEGF gene family expression with cognitive aging and Alzheimer's disease

scientific article published on 05 November 2019

Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.

scientific article

An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.

scientific article published on March 1996

An exponential combination procedure for set-based association tests in sequencing studies

scientific article published on 15 November 2012

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

scientific article published on 01 June 2020

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

article

Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia

scientific article

Ascertainment considerations in the analysis of affected sib shared haplotype data

scientific article published on 01 January 1986

Association Testing of the Positional and Functional Candidate Gene SLC1A1/EAAC1 in Early-Onset Obsessive-compulsive Disorder

article

Association of attention-deficit disorder and the dopamine transporter gene.

scientific article

Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses

article

Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population

scientific article published in February 2004

Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects

scientific article

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

scientific article

Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young

scientific article published on 01 February 2000

Beyond type 2 diabetes, obesity and hypertension: an axis including sleep apnea, left ventricular hypertrophy, endothelial dysfunction, and aortic stiffness among Mexican Americans in Starr County, Texas

scientific article published on 08 June 2016

Biomolecular Systems of Disease Buried Across Multiple GWAS Unveiled by Information Theory and Ontology.

scientific article published on March 2010

CYP2D6 genotype and tamoxifen activity: understanding interstudy variability in methodological quality

scientific article published on August 2013

Calpains play a role in insulin secretion and action

scientific article published in September 2001

Cancer biomarker discovery is improved by accounting for variability in general levels of drug sensitivity in pre-clinical models

scientific article published on 21 September 2016

Cancer pharmacogenomics: strategies and challenges

scientific article

Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene ⬇️

scientific article published on October 1, 2001

Challenges in interpreting the evidence for genetic predictors of ototoxicity

scientific article published in December 2013

Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci

scientific article

Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics

scientific article

Classification of common human diseases derived from shared genetic and environmental determinants

scientific article published on 07 August 2017

Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer

scientific article published on 13 June 2017

Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms

scientific article published on 05 April 2019

Clinical drug response can be predicted using baseline gene expression levels and in vitro drug sensitivity in cell lines

scientific article

Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015

scientific article published on 06 May 2020

Clinical translation of cell-based pharmacogenomic discovery

scientific article published on 22 August 2012

Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice

scientific article published on 14 February 2020

Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes

scientific article published on 12 May 2006

Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity

scientific article

Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients

scientific article published on 28 March 2013

Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset

scientific article

Concordant gene expression in leukemia cells and normal leukocytes is associated with germline cis-SNPs

scientific article

Confirmed Locus on Chromosome 11p and Candidate Loci on 6q and 8p for the Triglyceride and Cholesterol Traits of Combined Hyperlipidemia ⬇️

scientific article published on September 18, 2003

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes

scientific article

Consistency in large pharmacogenomic studies.

scientific article published in November 2016

Copy number polymorphisms and anticancer pharmacogenomics

scientific article published on 25 May 2011

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

scientific article

Coverage and Characteristics of the The Affymetrix GeneChip ® Human Mapping 100K SNP Set

article

Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.

scientific article published on 5 May 2006

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

scientific article

Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait

scientific article

De novo pattern discovery enables robust assessment of functional consequences of non-coding variants

scientific article published on 01 May 2019

Disease associations. Chance, artifact, or susceptibility genes?

scientific article

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

scientific article published on 16 April 2020

Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.

scientific article published on 3 January 2012

Erratum: Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33

scholarly article published in Molecular Psychiatry

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Establishment of CYP2D6 reference samples by multiple validated genotyping platforms

scientific article published on July 2014

Estimating heritability and genetic correlations from large health datasets in the absence of genetic data

scientific article published on 03 December 2019

Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.

scientific article

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

scientific article

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

scientific article

Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry

scientific article published on 22 February 2012

Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations

scientific article published on 2 May 2008

Evaluation of genetic variation contributing to differences in gene expression between populations

scientific article published on 28 February 2008

Evidence for a susceptibility locus on chromosome 10p15 in early-onset obsessive-compulsive disorder

scientific article

Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure

scientific article published on April 2003

Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping

scientific article

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

scientific article published on 8 May 2018

Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines

scientific article published on April 2009

Exprtarget: an integrative approach to predicting human microRNA targets

scientific article

Factors that impact susceptibility to fiber-induced health effects

scientific article

Finding the missing heritability of complex diseases

scientific article

Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33

scientific article published on 01 January 2004

Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33

Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21

scientific article

Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers

scientific article published on 08 March 2013

GEL: a novel genotype calling algorithm using empirical likelihood

scientific article published on 29 June 2006

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

article

Gender-specific differences in expression in human lymphoblastoid cell lines

scientific article published on June 2007

Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma

scientific article published on 15 January 2018

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

article

Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development

Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q

scientific article

Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1.

scientific article

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium

scientific article

Genetic architecture of microRNA expression: implications for the transcriptome and complex traits

scientific article

Genetic architecture of transcript-level variation in humans

scientific article published on 24 April 2008

Genetic association signal near NTN4 in Tourette syndrome

scientific article

Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver

scientific article

Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans

scientific article

Genetic predictors of gene expression associated with risk of bipolar disorder

article

Genetic resilience to amyloid related cognitive decline.

scientific article published on 14 October 2016

Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture?

scientific article

Genetic risk for major depressive disorder and loneliness in gender-specific associations with coronary artery disease: supplementary

scholarly article published 5 January 2019

Genetic risk for major depressive disorder and loneliness in sex-specific associations with coronary artery disease

scientific article published on 03 December 2019

Genetic studies of stuttering in a founder population

scientific article

Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry

scientific article published on 11 January 2012

Genetic variants and functional pathways associated with resilience to Alzheimer's disease

scientific article published on 01 August 2020

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

scientific article published on 05 June 2013

Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population

scientific article published on 5 February 2005

Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder

scientific article published on 07 April 2014

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

scientific journal article

Genetic variation is the major determinant of individual differences in leukocyte endothelial adhesion

scientific article

Genetics of Stuttering

article

Genome wide association studies for diabetes: perspective on results and challenges ⬇️

scientific article published on January 28, 2013

Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects

scientific article

Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals

scientific journal article

Genome-wide association studies in pharmacogenomics: successes and lessons

scientific article

Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer

scientific article published on November 2016

Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia

scientific journal article

Genome-wide association study of Tourette's syndrome

scientific article

Genome-wide association study of obsessive-compulsive disorder.

scientific article

Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas

scientific article published on 15 May 2011

Genome-wide identification of microRNA expression quantitative trait loci

scientific article

Genome-wide interrogation of longitudinal FEV1 in children with asthma

scientific article

Genome-wide linkage analyses of total serum IgE using variance components analysis in asthmatic families

scientific article

Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands

scientific article published on 01 July 2002

Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans

scientific article

Genome-wide meta-analysis for severe diabetic retinopathy

scientific article

Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations

scientific article

Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25.

scientific article published in October 2004

Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma

scientific article published on 01 September 1998

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample

scientific article

Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma

scientific article

Genomewide significant linkage to stuttering on chromosome 12.

scientific article

Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus

scientific article

Germline BAP1 mutations predispose to malignant mesothelioma

scientific article

Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers

scientific article

Glucose transporter gene and non-insulin-dependent diabetes

scientific article published on 01 October 1988

HLA-DR typing "at the DNA level": RFLPs and subtypes detected with a DR beta cDNA probe

scientific article

Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene

scientific article published on 20 May 2005

Host genetic effects in pneumonia

scientific article published on 13 December 2020

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from

scientific article

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas

scientific article

Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies

scientific article

Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome

scientific article

Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of Pazopanib

scientific article

Identification of common genetic variants that account for transcript isoform variation between human populations.

scientific article published on 04 December 2008

Identification of genetic variants and gene expression relationships associated with pharmacogenes in humans

scientific article published on June 2008

Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese

scientific article

Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs

scientific article published on August 1995

Identification of novel germline polymorphisms governing capecitabine sensitivity.

scientific article

Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies

scientific article published on 10 September 2007

Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue

scientific article

Identifying plausible genetic models based on association and linkage results: application to type 2 diabetes

scientific article published on 3 August 2012

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

scholarly article published 14 February 2018

Improving the computation efficiency of polygenic risk score modeling: faster in Julia

scientific article published in 2022

Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx

scientific article published on 29 March 2016

Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences

scientific article published on 07 October 2019

Inheritance of human platelet thermolabile phenol sulfotransferase (TL PST) activity

scientific article published on January 1988

Institutional Profile: University of Chicago Center for Personalized Therapeutics: research, education and implementation science

scientific article

Insulin gene mutations as a cause of permanent neonatal diabetes

scholarly article

Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro(12)Ala polymorphism in the PPARgamma gene

scientific article published on February 2002

Insulin-gene sharing in sib pairs with insulin-dependent diabetes mellitus: no evidence for linkage

scientific article

Insulin-receptor and apolipoprotein genes contribute to development of NIDDM in Chinese Americans

scientific article published on 01 January 1989

Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients

scientific article

Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy

scientific article published on 30 November 2012

Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity

scientific article

Integrative cross tissue analysis of gene expression identifies novel type 2 diabetes genes

article

Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma

scientific article published on 3 October 2017

Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data

scientific article

Interaction of prenatal exposure to cigarettes and MAOA genotype in pathways to youth antisocial behavior

scientific article

Interpreting P values in pharmacogenetic studies: a call for process and perspective

scientific article published on 01 October 2007

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

scientific article published on 01 March 2019

Isolation of a cDNA Clone Encoding a KATP Channel-Like Protein Expressed in Insulin-Secreting Cells, Localization of the Human Gene to Chromosome Band 21q22.1, and Linkage Studies With NIDDM

article

Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM

scientific article

LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins

Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry

scientific article published on 29 November 2011

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism

scientific article published on 21 March 2017

Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II.

scientific article published in October 1988

Linkage of calpain 10 to type 2 diabetes: the biological rationale

scientific article

Linkage studies in NIDDM with markers near the sulphonylurea receptor gene

scientific article

Linkage studies of maturity onset diabetes of the young--R.W. pedigree

scientific article published on 01 October 1988

Linkage studies on NIDDM and the insulin and insulin-receptor genes

scientific article

Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers ⬇️

scientific article published on May 1, 1998

Local genetic effects on gene expression across 44 human tissues

article

Localization of MODY3 to a 5-cM Region of Human Chromosome 12 ⬇️

scientific article published on 01 December 1995

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

scientific article

Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans

article by Nancy J Cox et al published February 1999 in Nature Genetics

Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees

scientific article published in July 2004

Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia

scientific article published on 27 February 2003

Loss of heterozygosity at the CYP2D6 locus in breast cancer: implications for germline pharmacogenetic studies.

scientific article

MERLIN...and the Geneticist's Stone? ⬇️

scientific article published on January 1, 2002

Mapping Diabetes-Susceptibility Genes: Lessons Learned From Search for DNA Marker for Maturity-Onset Diabetes of the Young ⬇️

scientific article published on April 1, 1992

Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects

scientific article

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

scientific article

Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium

scientific article

Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs

scientific article

Mixed effects modeling of proliferation rates in cell-based models: consequence for pharmacogenomics and cancer

scientific article

Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits

scientific article published on 13 May 2019

Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects

scientific article

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

scientific article published in December 1996

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

scientific article

Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases

scientific article (publication date: 2013)

New complexities in the genetics of stuttering: significant sex-specific linkage signals

scientific article

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

scientific article

No bias in linkage analysis

scientific article published on October 2004

No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY

scientific article published on 01 August 2000

Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.

scientific article

Obesity-associated variants within FTO form long-range functional connections with IRX3

scientific article (publication date: 20 March 2014)

On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy

scientific article

PACdb: a database for cell-based pharmacogenomics

scientific article published on April 2010

Parent-of-origin effects of the serotonin transporter gene associated with autism

scientific article

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

scientific article published in October 2013

Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10.

scientific article published in December 2005

PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records

scientific article published on 24 September 2020

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

scientific article published on 13 January 2020

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

scientific article published in Science

Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients

scientific article

Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis - a phenome-wide association study and inverse-variance weighted meta-analysis

scientific article published on 20 April 2020

Poly-omic prediction of complex traits: OmicKriging

scientific article

Population Differences in the Rate of Proliferation of International HapMap Cell Lines ⬇️

scientific article published on November 25, 2010

Population differences in microRNA expression and biological implications ⬇️

scientific article published on July 1, 2011

Population-specific GSTM1 copy number variation

scientific article published on 23 October 2008

Power and sample size calculations for SNP association studies with censored time-to-event outcomes

scientific article published on 8 June 2012

Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans

scientific article published on 30 September 2008

Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

scientific article published on 01 June 2019

Quantitative allelic test--a fast test for very large association studies

scientific article

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

scientific article published on June 2017

Rational inferences about departures from Hardy-Weinberg equilibrium

scientific article published on 15 April 2005

Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial.

scientific article published on 31 July 2012

Re: Concordance between CYP2D6 genotypes obtained from tumor-derived and germline DNA.

scientific article published on 3 April 2014

Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational study using electronic health records

scientific article published on 28 August 2018

Relationship of EGFR mutations, expression, amplification, and polymorphisms to epidermal growth factor receptor inhibitors in the NCI60 cell lines

scientific article published on November 2007

Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome

scientific article

Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome

scientific article

Replication analysis for severe diabetic retinopathy

scientific article

Response to Knoppers et al

Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians

scientific article

SCAN database: facilitating integrative analyses of cytosine modification and expression QTL.

scientific article

SCAN: SNP and copy number annotation

scientific article

SCAN: a systems biology approach to pharmacogenomic discovery

scientific article

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

scientific article (publication date: 25 April 2008)

STAMS: STRING-assisted module search for genome wide association studies and application to autism

scientific article published on 19 August 2016

Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle

scientific article

Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle

scientific article (publication date: June 1996)

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families

scientific article

Sex differences in the genetic predictors of Alzheimer's pathology

scientific article published on 01 September 2019

Sex-specific genetic predictors of Alzheimer's disease biomarkers

scientific article published on 02 July 2018

Shared Genetic Control of Brain Activity During Sleep and Insulin Secretion: A Laboratory-Based Family Study

scientific article

Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping

scientific article

Structural architecture of SNP effects on complex traits

scientific article

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom

scientific article

Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues

scientific article

Survey of the Heritability and Sparsity of Gene Expression Traits Across Human Tissues

article

The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics

scientific article

The 31-cM region of chromosome 11 including the obesity gene tubby and ATP-sensitive potassium channel genes, SUR1 and Kir6.2, does not contain a major susceptibility locus for NIDDM in 127 non-Hispanic white affected sibships

scientific article published on 01 July 1997

The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study

scientific article published on 10 April 2013

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetics of asthma. Mapping genes for complex traits in founder populations

scientific article published on 01 April 1998

The importance of genealogy in determining genetic associations with complex traits

scientific article published on November 2001

The insulin gene and susceptibility to IDDM.

scientific article published on January 1989

The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans

scientific article published on 26 January 2011

The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution

scientific article

The regulatory genome constrains protein sequence evolution: implications for the search for disease-associated genes

scientific article published on 21 July 2020

The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy

scientific article (publication date: 2012)

The use of genomic information to optimize cancer chemotherapy

scientific article

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

scientific article

Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival

scientific article published on 14 December 2012

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

scientific article published on 23 February 2016

Transcription factor ETV1 is essential for rapid conduction in the heart

scientific article published on 24 October 2016

Transcriptomic Imputation of Bipolar Disorder and Bipolar subtypes reveals 29 novel associated genes

article

Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines

scientific article published on 09 February 2016

Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism

scientific article

Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology

scientific article published on 28 September 2017

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

article

Variants affecting exon skipping contribute to complex traits.

scientific article

Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity

scientific article published on 30 December 2016

Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians

scientific article published in December 2002

Variation in the calpain-10 gene affects blood glucose levels in the British population

scientific article published in January 2002

Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations

scientific article published in February 2000

Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome

scientific article published on 25 September 2009

Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome

scientific article

[Multipoint Linkage Analysis Using Affected Relative Pairs and Partially Informative Markers]: Discussion

article published in 1998

[The association of non-insulin-dependent diabetes mellitus with the genes responsible for carbohydrate and lipid metabolism in the Chinese]

scientific article published on 01 October 1988

beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.

scientific article published in November 2000

cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young

scientific article

pRRophetic: an R package for prediction of clinical chemotherapeutic response from tumor gene expression levels

scientific article

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