Genetic Association Studies

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  Subject Areas on Research

  • A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults. 
  • A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population. 
  • A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience. 
  • A PGC1β genetic variant associated with nevus count and melanoma mortality. 
  • A PheWAS approach in studying HLA-DRB1*1501. 
  • A functional polymorphism in the HTR2C gene associated with stress responses: a validation study. 
  • A functional substitution in the L-aromatic amino acid decarboxylase enzyme worsens somatic symptoms via a serotonergic pathway. 
  • A functional variant at the miR-184 binding site in TNFAIP2 and risk of squamous cell carcinoma of the head and neck. 
  • A functional variant at the miRNA binding site in E2F1 gene is associated with risk and tumor HPV16 status of oropharynx squamous cell carcinoma. 
  • A high frequency of activating extracellular domain ERBB2 (HER2) mutation in micropapillary urothelial carcinoma. 
  • A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation. 
  • A needle in a haystack: Sturge-Weber syndrome gene discovery. 
  • A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 
  • A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. 
  • A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 
  • A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry. 
  • A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect. 
  • A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 
  • A targeted genetic association study of epithelial ovarian cancer susceptibility. 
  • ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. 
  • AGTR1 gene variation: association with depression and frontotemporal morphology. 
  • ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention. 
  • Aggregate Effects of Intraocular Pressure and Cup-to-Disc Ratio Genetic Variants on Glaucoma in a Multiethnic Asian Population. 
  • Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936. 
  • An examination of the association between 5-HTTLPR, combat exposure, and PTSD diagnosis among U.S. veterans. 
  • Analysis of HLA A*02 association with vaccine efficacy in the RV144 HIV-1 vaccine trial. 
  • Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome. 
  • Apoptotic variants as predictors of risk of oropharyngeal cancer recurrence after definitive radiotherapy. 
  • Applying family analyses to electronic health records to facilitate genetic research. 
  • Assessing the Causality between Blood Pressure and Retinal Vascular Caliber through Mendelian Randomisation. 
  • Association Between Germline Mutation in VSIG10L and Familial Barrett Neoplasia. 
  • Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 
  • Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. 
  • Association of ABCC2 polymorphisms with platinum-based chemotherapy response and severe toxicity in non-small cell lung cancer patients. 
  • Association of Forced Vital Capacity with the Developmental Gene NCOR2. 
  • Association of IL6ST (gp130) Polymorphism with Functional Outcome Following Spontaneous Intracerebral Hemorrhage. 
  • Association of Tumor HER3 Messenger RNA Expression With Panitumumab Efficacy in Advanced Colorectal Cancer. 
  • Association of circadian genes with diurnal blood pressure changes and non-dipper essential hypertension: a genetic association with young-onset hypertension. 
  • Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. 
  • Association of genetic variation in FTO with risk of obesity and type 2 diabetes with data from 96,551 East and South Asians. 
  • Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. 
  • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 
  • Association of polymorphisms in genes regulating the corticotropin-releasing factor system with antidepressant treatment response. 
  • Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population. 
  • Association of the CCR5 gene with juvenile idiopathic arthritis. 
  • Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 
  • Associations between prenatal physical activity, birth weight, and DNA methylation at genomically imprinted domains in a multiethnic newborn cohort. 
  • Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta-analysis. 
  • Associations of PI3KR1 and mTOR polymorphisms with esophageal squamous cell carcinoma risk and gene-environment interactions in Eastern Chinese populations. 
  • Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population. 
  • Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases. 
  • Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 
  • Bipolar disorder, brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and brain morphology. 
  • Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype-Phenotype Features-An Entity With an Increasing Incidence? 
  • CASP7 variants modify susceptibility to cervical cancer in Chinese women. 
  • CRHBP polymorphisms predict chronic pain development following motor vehicle collision. 
  • CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. 
  • CYP2C19 variation and citalopram response. 
  • Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans. 
  • Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population. 
  • Cerebral cavernous malformations are driven by ADAMTS5 proteolysis of versican. 
  • Chapter 6 state of the science of pediatric traumatic brain injury: biomarkers and gene association studies. 
  • Characterizing genetic and environmental influences on variable DNA methylation using monozygotic and dizygotic twins. 
  • Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. 
  • Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. 
  • Chronic family stress moderates the association between a TOMM40 variant and triglyceride levels in two independent Caucasian samples. 
  • Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer. 
  • Clinical and computed tomographic predictors of chronic bronchitis in COPD: a cross sectional analysis of the COPDGene study. 
  • Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 
  • Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. 
  • Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 
  • Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 
  • Clinicopathologic and genetic spectrum of infantile B-lymphoblastic leukemia: a multi-institutional study. 
  • Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1. 
  • Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk. 
  • Common genetic variation in the indoleamine-2,3-dioxygenase genes and antidepressant treatment outcome in major depressive disorder. 
  • Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 
  • Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. 
  • Complement factor H in AMD: Bridging genetic associations and pathobiology. 
  • Consumption of meat is associated with higher fasting glucose and insulin concentrations regardless of glucose and insulin genetic risk scores: a meta-analysis of 50,345 Caucasians. 
  • Convergent translational evidence of a role for anandamide in amygdala-mediated fear extinction, threat processing and stress-reactivity 
  • Correlation between base-excision repair gene polymorphisms and levels of in-vitro BPDE-induced DNA adducts in cultured peripheral blood lymphocytes. 
  • Cortisol responses to emotional stress in men: association with a functional polymorphism in the 5HTR2C gene. 
  • Crohn's disease IRGM risk alleles are associated with altered gene expression in human tissues. 
  • Cytochrome P450 1A1 (CYP1A1) gene polymorphisms and cervical cancer risk: a meta-analysis. 
  • Cytokine Gene Polymorphisms Associated With Symptom Clusters in Oncology Patients Undergoing Radiation Therapy. 
  • Cytokine gene polymorphisms and the outcome of invasive candidiasis: a prospective cohort study. 
  • DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis. 
  • DNA Methylation of the Aryl Hydrocarbon Receptor Repressor Associations With Cigarette Smoking and Subclinical Atherosclerosis. 
  • DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer. 
  • Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. 
  • De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. 
  • De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. 
  • Deceased donor multidrug resistance protein 1 and caveolin 1 gene variants may influence allograft survival in kidney transplantation. 
  • Deep Sequencing of 71 Candidate Genes to Characterize Variation Associated with Alcohol Dependence. 
  • Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. 
  • Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk. 
  • Design and Implementation of the International Genetics and Translational Research in Transplantation Network. 
  • Discordant and heterogeneous clinically relevant genomic alterations in circulating tumor cells vs plasma DNA from men with metastatic castration resistant prostate cancer. 
  • Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis. 
  • Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study). 
  • Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program. 
  • Downregulation of TOMM40 expression in the blood of Alzheimer disease subjects compared with matched controls. 
  • EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. 
  • ERRgamma regulates cardiac, gastric, and renal potassium homeostasis. 
  • ERα PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study. 
  • Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats. 
  • Epigenetic regulation of AXL and risk of childhood asthma symptoms. 
  • Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study. 
  • Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease. 
  • Evaluation of the Genetic Variance of Alzheimer's Disease Explained by the Disease-Associated Chromosomal Regions. 
  • Evaluation of vitamin D biosynthesis and pathway target genes reveals UGT2A1/2 and EGFR polymorphisms associated with epithelial ovarian cancer in African American Women. 
  • Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. 
  • Evidence for association of SNPs in ABCB1 and CBR3, but not RAC2, NCF4, SLC28A3 or TOP2B, with chronic cardiotoxicity in a cohort of breast cancer patients treated with anthracyclines. 
  • Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium. 
  • Evolving Roles of Histologic Evaluation and Molecular/Genomic Profiling in the Management of Endometrial Cancer. 
  • Examination of Potential Modifiers of the Association of APOL1 Alleles with CKD Progression. 
  • Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. 
  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. 
  • Expanding studies of chromosome structure and function in the era of T2T genomics. 
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. 
  • Exploration of a hypothesized independent association of a common 9p21.3 gene variant and ischemic stroke in patients with and without angiographic coronary artery disease. 
  • FTO affects food cravings and interacts with age to influence age-related decline in food cravings. 
  • Family-based association tests for rare variants with censored traits. 
  • Fanconi anemia gene variants in therapy-related myeloid neoplasms. 
  • Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis. 
  • Finding our way through phenotypes. 
  • Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5. 
  • First Responder to Genomic Information: A Guide for Primary Care Providers. 
  • Functional Annotation Signatures of Disease Susceptibility Loci Improve SNP Association Analysis 
  • Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing. 
  • Functional variant of MTOR rs2536 and survival of Chinese gastric cancer patients. 
  • Functional variants in DCAF4 associated with lung cancer risk in European populations. 
  • Functional variants in TNFAIP8 associated with cervical cancer susceptibility and clinical outcomes. 
  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 
  • GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. 
  • GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. 
  • Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients. 
  • Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 
  • Gene-gene Interaction Analyses for Atrial Fibrillation. 
  • Generalized admixture mapping for complex traits. 
  • Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. 
  • Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family. 
  • Genetic Dissection of Heritable Traits in Yeast Using Bulk Segregant Analysis. 
  • Genetic association for renal traits among participants of African ancestry reveals new loci for renal function. 
  • Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort. 
  • Genetic association study of childhood aggression across raters, instruments, and age. 
  • Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. 
  • Genetic mutations in African patients with atrial fibrillation: Rationale and design of the Study of Genetics of Atrial Fibrillation in an African Population (SIGNAL). 
  • Genetic pathway analysis reveals a major role for extracellular matrix organization in inflammatory and neuropathic pain. 
  • Genetic predisposition of behavioral response. 
  • Genetic studies of human neuropathic pain conditions: a review. 
  • Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans. 
  • Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study. 
  • Genetic variants at the miR-124 binding site on the cytoskeleton-organizing IQGAP1 gene confer differential predisposition to breast cancer. 
  • Genetic variants in miR-196a2 and miR-499 are associated with susceptibility to esophageal squamous cell carcinoma in Chinese Han population. 
  • Genetic variants in nucleotide excision repair pathway predict survival of esophageal squamous cell cancer patients receiving platinum-based chemotherapy. 
  • Genetic variants in p53-related genes confer susceptibility to second primary malignancy in patients with index squamous cell carcinoma of head and neck. 
  • Genetic variants in the genes encoding rho GTPases and related regulators predict cutaneous melanoma-specific survival. 
  • Genetic variants of DNA repair genes predict the survival of patients with esophageal squamous cell cancer receiving platinum-based adjuvant chemotherapy. 
  • Genetic variants of a BH3-only pro-apoptotic gene, PUMA, and risk of HPV16-associated squamous cell carcinoma of the head and neck. 
  • Genetic variation in the prostaglandin E2 pathway is associated with primary graft dysfunction. 
  • Genetic variations in the homologous recombination repair pathway genes modify risk of glioma. 
  • Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. 
  • Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points-Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC). 
  • Genome-wide association reveals contribution of MRAS to painful temporomandibular disorder in males. 
  • Genome-wide association scan for variants associated with early-onset prostate cancer. 
  • Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. 
  • Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. 
  • Genome-wide significant risk associations for mucinous ovarian carcinoma. 
  • Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients. 
  • Genomic alterations in head and neck squamous cell carcinoma determined by cancer gene-targeted sequencing. 
  • Genomic approaches for understanding the genetics of complex disease. 
  • Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial. 
  • Genomics of Cardiovascular Measures of Autonomic Tone. 
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 
  • Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India. 
  • Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics. 
  • Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics. 
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 
  • High-throughput phenotyping of multicellular organisms: finding the link between genotype and phenotype. 
  • Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. 
  • Human pain genetics database: a resource dedicated to human pain genetics research. 
  • IGF2R genetic variants, circulating IGF2 concentrations and colon cancer risk in African Americans and Whites. 
  • Identification of Long Noncoding RNAs Associated to Human Disease Susceptibility. 
  • Identification of genes from the fungal pathogen Cryptococcus neoformans related to transmigration into the central nervous system. 
  • Identification of molecular subtypes of gastric cancer with different responses to PI3-kinase inhibitors and 5-fluorouracil. 
  • Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis-a cross-sectional study in a Chinese population. 
  • Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. 
  • Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. 
  • Independent associations of TOMM40 and APOE variants with body mass index. 
  • Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences. 
  • Inflammatory genes and psychological factors predict induced shoulder pain phenotype. 
  • Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genes. 
  • Integrative genomic study of Chinese clear cell renal cell carcinoma reveals features associated with thrombus. 
  • Interaction Between Peroxisome Proliferator Activated Receptor δ and Epithelial Membrane Protein 2 Polymorphisms Influences HDL-C Levels in the Chinese Population. 
  • Interferon-lambda genotype and low serum low-density lipoprotein cholesterol levels in patients with chronic hepatitis C infection. 
  • Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina. 
  • Interleukin 28B polymorphisms are the only common genetic variants associated with low-density lipoprotein cholesterol (LDL-C) in genotype-1 chronic hepatitis C and determine the association between LDL-C and treatment response. 
  • Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 
  • Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. 
  • KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. 
  • Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. 
  • Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. 
  • Lack of association between primary angle-closure glaucoma susceptibility loci and the ocular biometric parameters anterior chamber depth and axial length. 
  • Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. 
  • Large-scale genetic investigation reveals genetic liability to multiple complex traits influencing a higher risk of ADHD. 
  • Leaf shape evolution has a similar genetic architecture in three edaphic specialists within the Mimulus guttatus species complex. 
  • Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. 
  • Leveraging population information in family-based rare variant association analyses of quantitative traits. 
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. 
  • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 
  • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. 
  • MRE11-deficiency associated with improved long-term disease free survival and overall survival in a subset of stage III colon cancer patients in randomized CALGB 89803 trial. 
  • Mapping the proteo-genomic convergence of human diseases. 
  • Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 
  • Maternal Diet and Insulin-Like Signaling Control Intergenerational Plasticity of Progeny Size and Starvation Resistance. 
  • Matrix metalloproteinase-9 genetic polymorphisms and the risk for advanced pelvic organ prolapse. 
  • Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes. 
  • Microcell-mediated chromosome transfer identifies EPB41L3 as a functional suppressor of epithelial ovarian cancers. 
  • Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 
  • Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 
  • Modulation of the BP response to diet by genes in the renin-angiotensin system and the adrenergic nervous system. 
  • Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 
  • Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. 
  • Multiple testing for gene sets from microarray experiments. 
  • Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. 
  • Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. 
  • Mutations in the TSGA14 gene in families with autism spectrum disorders. 
  • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. 
  • Natural variation in CDC28 underlies morphological phenotypes in an environmental yeast isolate. 
  • Neurotransmitter Pathway Genes in Cognitive Decline During Aging: Evidence for GNG4 and KCNQ2 Genes. 
  • No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival. 
  • Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma. 
  • Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. 
  • Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 
  • Novel associations of UDP-glucuronosyltransferase 2B gene variants with prostate cancer risk in a multiethnic study. 
  • Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. 
  • Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. 
  • Ovarian cancer risk, ALDH2 polymorphism and alcohol drinking: Asian data from the Ovarian Cancer Association Consortium. 
  • Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major quantitative trait nucleotide. 
  • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 
  • PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction. 
  • PGC-1 coactivators regulate MITF and the tanning response. 
  • Pain sensitivity and vasopressin analgesia are mediated by a gene-sex-environment interaction. 
  • Paraoxonase 1 (PON1) gene variants are not associated with clopidogrel response. 
  • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. 
  • PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies. 
  • Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 
  • Plasma Plasmodium falciparum histidine-rich protein-2 concentrations are associated with malaria severity and mortality in Tanzanian children. 
  • Pleiotropic Associations of Allelic Variants in a 2q22 Region with Risks of Major Human Diseases and Mortality. 
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. 
  • Polymorphisms in Fibronectin Binding Proteins A and B among Staphylococcus aureus Bloodstream Isolates Are Not Associated with Arthroplasty Infection. 
  • Polymorphisms in the kinesin-like factor 1 B gene and risk of epithelial ovarian cancer in Eastern Chinese women. 
  • Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck. 
  • Potential genetic risk factors for chronic TMD: genetic associations from the OPPERA case control study. 
  • Potentially functional variants in the core nucleotide excision repair genes predict survival in Japanese gastric cancer patients. 
  • Predicting Alzheimer's Disease Using Combined Imaging-Whole Genome SNP Data. 
  • Preliminary report: Zn-alpha2-glycoprotein genotype and serum levels are associated with serum lipids. 
  • Preventing Alzheimer's disease and cognitive decline. 
  • Pri-miR-124 rs531564 and pri-miR-34b/c rs4938723 polymorphisms are associated with decreased risk of esophageal squamous cell carcinoma in Chinese populations. 
  • Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. 
  • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. 
  • Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study. 
  • Protein prediction for trait mapping in diverse populations. 
  • RAS mutations in thyroid FNA specimens are highly predictive of predominantly low-risk follicular-pattern cancers. 
  • Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype. 
  • Recommendations from the international stroke genetics consortium, part 2: biological sample collection and storage. 
  • Reduced mRNA expression of nucleotide excision repair genes in lymphocytes and risk of squamous cell carcinoma of the head and neck. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Replication in Imaging Genetics: The Case of Threat-Related Amygdala Reactivity. 
  • Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10. 
  • Robust analysis of secondary phenotypes in case-control genetic association studies. 
  • Role of homocysteine & MTHFR C677T gene polymorphism as risk factors for coronary artery disease in young Indians. 
  • Score-based adjustment for confounding by population stratification in genetic association studies. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Secondary analysis of case-control association studies: Insights on weighting-based inference motivate a new specification test. 
  • Self-reported prenatal tobacco smoke exposure, AXL gene-body methylation, and childhood asthma phenotypes. 
  • Semi-supervised validation of multiple surrogate outcomes with application to electronic medical records phenotyping. 
  • Sex differences in the association of the apolipoprotein E epsilon 4 allele with incidence of dementia, cognitive impairment, and decline. 
  • Shared genetics underlying epidemiological association between endometriosis and ovarian cancer. 
  • Significance of MDM2 and P14 ARF polymorphisms in susceptibility to differentiated thyroid carcinoma. 
  • Site disparities in apoptotic variants as predictors of risk for second primary malignancy in patients with squamous cell carcinoma of the head and neck. 
  • Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. 
  • Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis. 
  • Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. 
  • Stress, COMT Polymorphisms, and Depressive Symptoms in Older Australian Women: An Exploratory Study. 
  • Summarizing polygenic risks for complex diseases in a clinical whole-genome report. 
  • Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis. 
  • Systematic comparison of published host gene expression signatures for bacterial/viral discrimination. 
  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. 
  • Telomere structure and maintenance gene variants and risk of five cancer types. 
  • Testing the Relative Performance of Data Adaptive Prediction Algorithms: A Generalized Test of Conditional Risk Differences. 
  • Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies. 
  • The APOE4 allele shows opposite sex bias in microbleeds and Alzheimer's disease of humans and mice. 
  • The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression. 
  • The Cancer Genome Atlas expression profiles of low-grade gliomas. 
  • The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. 
  • The TOMM40 poly-T rs10524523 variant is associated with cognitive performance among non-demented elderly with type 2 diabetes. 
  • The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25,000 subjects. 
  • The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females. 
  • The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 
  • The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease. 
  • The genomic relationship between primary breast carcinomas and their nodal metastases. 
  • The importance of dynamic re-analysis in diagnostic whole exome sequencing. 
  • The miR-184 binding-site rs8126 T>C polymorphism in TNFAIP2 is associated with risk of gastric cancer. 
  • Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels. 
  • Trade-off in the effects of the apolipoprotein E polymorphism on the ages at onset of CVD and cancer influences human lifespan. 
  • Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs. 
  • Two novel PRKCI polymorphisms and prostate cancer risk in an Eastern Chinese Han population. 
  • Type 2 Diabetes Genetic Variants and Risk of Diabetic Retinopathy. 
  • Uncoupling associations of risk alleles with endophenotypes and phenotypes: insights from the ApoB locus and heart-related traits. 
  • Using the phenoscape knowledgebase to relate genetic perturbations to phenotypic evolution. 
  • Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene. 
  • Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. 
  • Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. 
  • Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx. 
  • Variation in PTX3 is associated with primary graft dysfunction after lung transplantation. 
  • Variation in glucose homeostasis traits associated with P2RX7 polymorphisms in mice and humans. 
  • Whole blood sequencing reveals circulating microRNA associations with high-risk traits in non-ST-segment elevation acute coronary syndrome. 
  • Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 
  • Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. 
  • Wingless Signaling: A Genetic Journey from Morphogenesis to Metastasis. 
  • gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels. 
  • miR-449b rs10061133 and miR-4293 rs12220909 polymorphisms are associated with decreased esophageal squamous cell carcinoma in a Chinese population. 
  • p14ARF genetic polymorphisms and susceptibility to second primary malignancy in patients with index squamous cell carcinoma of the head and neck. 
  • p73 G4C14-to-A4T14 gene polymorphism and interaction with p53 exon 4 Arg72Pro on cancer susceptibility: a meta-analysis of the literature. 
  • permGPU: Using graphics processing units in RNA microarray association studies. 
  • rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. 
  • α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Clyde, Merlise, Professor of Statistical Science, Statistical Science
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Magwene, Paul Mitaari, Professor of Biology, Biology
  • McCarthy, Janice Marie, Medical Instructor in Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Young, Ken H, Professor of Pathology, Pathology