Phenotype Concept

subject area of

• 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients  Academic Article
• 17HSD 2 may be higher in African-American breast cancer and is associated with estrogen receptor-negative tumors.  Academic Article
• 4-phenylbutyrate and valproate treatment attenuates the progression of atherosclerosis and stabilizes existing plaques  Academic Article
• 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis  Academic Article
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Academic Article
• In VivoMagnetic Resonance Imaging and Semiautomated Image Analysis Extend the Brain Phenotype forcdf/cdfMice  Academic Article
• TSPEARvariants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Academic Article
• A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states  Academic Article
• A Candidate-Gene Approach Identifies Novel Associations Between Common Variants in/Near Syndromic Obesity Genes and BMI in Pediatric and Adult European Populations  Academic Article
• A Computable Phenotype for Autosomal Dominant Polycystic Kidney Disease  Academic Article
• A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder  Academic Article
• A Male Phenotype With Aicardi Syndrome  Academic Article
• A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy  Academic Article
• A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait  Academic Article
• A Novel Type 2A von Willebrand Factor Mutation (V1499E) Associated With Variable Clinical Expression  Academic Article
• A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus  Academic Article
• A Population-Based Study of Dystrophin Mutations in Canada  Academic Article
• A Prospective Case Series of High-risk Infants who Developed Autism  Academic Article
• A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment  Academic Article
• A Role of p73 in Mitotic Exit  Academic Article
• A STUDY OF CANALIZATION AND DEVELOPMENTAL STABILITY IN THE STERNOPLEURAL BRISTLE SYSTEM OF DROSOPHILA MELANOGASTER  Academic Article
• A comparison of pravastatin and gemfibrozil in the treatment of dyslipoproteinemia in patients with non-insulin-dependent diabetes mellitus  Academic Article
• A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease  Academic Article
• A consensus-based framework for conducting and reporting osteoarthritis phenotype research  Academic Article
• A fatal lymphoproliferative disorder with a suppressor T-cell phenotype. Neoplastic, reactive, or both?  Academic Article
• A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation  Academic Article
• A fertile man with tdic(Y;22): How a stable neo-X1X2Y sex-determining mechanism could evolve in man  Academic Article
• A general mechanism for conditional expression of exaggerated sexually-selected traits  Academic Article
• A genetic link between prepregnancy body mass index, postpartum weight retention, and offspring weight in early childhood  Academic Article
• A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees  Academic Article
• A genotype-to-phenotype map of in vitro selected RNA-cleaving DNAzymes: implications for accessing the target phenotype  Academic Article
• A human cell line that maintains telomeres in the absence of telomerase and of key markers of ALT  Academic Article
• A large-scale candidate gene association study of age at menarche and age at natural menopause  Academic Article
• A method to estimate the contribution of regional genetic associations to complex traits from summary association statistics  Academic Article
• A monocyte-TNF-endothelial activation axis in sickle transgenic mice: Therapeutic benefit from TNF blockade  Academic Article
• A multiplexable assay for screening antibiotic lethality against drug-tolerant bacteria  Academic Article
• A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family  Academic Article
• A newly discovered class of human hematopoietic cells with SCID-repopulating activity  Academic Article
• A novel assay for improved detection of sputum periostin in patients with asthma  Academic Article
• A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies  Academic Article
• A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene  Academic Article
• A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features  Academic Article
• A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths  Academic Article
• A phenome-wide association study of a lipoprotein-associated phospholipase A₂loss-of-function variant in 90 000 Chinese adults  Academic Article
• A phosphate transport system is required for symbiotic nitrogen fixation by Rhizobium meliloti  Academic Article
• A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia  Academic Article
• A robust method to estimate regional polygenic correlation under misspecified linkage disequilibrium structure  Academic Article
• A simplified diagnosis algorithm for dysbetalipoproteinemia  Academic Article
• A standardised method for interpreting the association between mutations and phenotypic drug resistance inMycobacterium tuberculosis  Academic Article
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Academic Article
• ALTITUDINAL CLINAL VARIATION IN WING SIZE AND SHAPE IN AFRICANDROSOPHILA MELANOGASTER: ONE CLINE OR MANY?  Academic Article
• ANCA-positive and ANCA-negative phenotypes of eosinophilic granulomatosis with polyangiitis (EGPA): outcome and long-term follow-up of 50 patients from a single Polish center.  Academic Article
• AP-2α is required after lens vesicle formation to maintain lens integrity  Academic Article
• AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle  Academic Article
• APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia  Academic Article
• Aberrant Epigenetic Regulation: A Central Contributor to Lung Carcinogenesis and a New Therapeutic Target  Academic Article
• Abnormal enzyme phenotype (e1 a e1 f): Normal response to succinylcholine  Academic Article
• Absence of compensatory vasodilation with perfusion pressure challenge in exercise: evidence for and implications of the noncompensator phenotype  Academic Article
• Acclimation of the crucifer Eutrema salsugineum to phosphate limitation is associated with constitutively high expression of phosphate‐starvation genes  Academic Article
• Accuracy and Biological Variation of Human Serum Paraoxonase 1 Activity and Polymorphism (Q192R) by Kinetic Enzyme Assay  Academic Article
• Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis  Academic Article
• Acetylation phenotype and cytochrome P450IA2 phenotype are unlikely to be associated with peripheral arterial disease  Academic Article
• Active metabolite concentration of clopidogrel in patients taking different doses of aspirin: results of the interaction trial  Academic Article
• Acute exacerbations of progressive-fibrosing interstitial lung diseases  Academic Article
• Adaptationism – how to carry out an exaptationist program  Academic Article
• Adenosine Kinase Deficiency Is Associated with Developmental Abnormalities and Reduced Transmethylation  Academic Article
• Adiponectin is expressed by skeletal muscle fibers and influences muscle phenotype and function  Academic Article
• Admixture mapping of male nuptial colour and body shape in a recently formed hybrid population of threespine stickleback  Academic Article
• Advances in Genomic Analysis of Stroke  Academic Article
• Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy  Academic Article
• Adverse metabolic phenotype of adolescent girls with non-alcoholic fatty liver disease plus polycystic ovary syndrome compared with other girls and boys  Academic Article
• Age differences in arterial and venous extra-cerebral blood flow in healthy adults: contributions of vascular risk factors and genetic variants  Academic Article
• Age-Related Resistance in Arabidopsis thaliana Involves the MADS-Domain Transcription Factor SHORT VEGETATIVE PHASE and Direct Action of Salicylic Acid on Pseudomonas syringae  Academic Article
• Airway smooth muscle in asthma: Phenotype plasticity and function  Conference Paper
• Alexithymia in Parents of Children with Autism Spectrum Disorder  Academic Article
• Allelic and phenotypic spectrum of plasma triglycerides  Academic Article
• Allergen bronchoprovocation test: an important research tool supporting precision medicine  Academic Article
• Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling  Academic Article
• An ABC-Type Cobalt Transport System Is Essential for Growth of Sinorhizobium melilotiat Trace Metal Concentrations  Academic Article
• An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia  Academic Article
• An Intact Intermediate Filament Network Is Required for Collateral Sprouting of Small Diameter Nerve Fibers  Academic Article
• An Overview of the Heparin-Induced Thrombocytopenia Syndrome  Academic Article
• An anti-CRISPR from a virulent streptococcal phage inhibits Streptococcus pyogenes Cas9  Academic Article
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids  Academic Article
• Analysis of Beta-Cell Gene Expression Reveals Inflammatory Signaling and Evidence of Dedifferentiation following Human Islet Isolation and Culture  Academic Article
• Analysis of C₄-dicarboxylate transport genes in Rhizobium meliloti  Academic Article
• Analysis of a 1600-kilobase Rhizobium meliloti megaplasmid using defined deletions generated in vivo.  Academic Article
• Analysis of the Contribution of Salmonella Pathogenicity Islands 1 and 2 to Enteric Disease Progression Using a Novel Bovine Ileal Loop Model and a Murine Model of Infectious Enterocolitis  Academic Article
• Analytical strategies to include the X‐chromosome in variance heterogeneity analyses: Evidence for trait‐specific polygenic variance structure  Academic Article
• Another Bacillus sphaericus serotype harbouring strains very toxic to mosquito larvae: Serotype H6  Academic Article
• Antibodies Encoded by FCRL4-Bearing Memory B Cells Preferentially Recognize Commensal Microbial Antigens  Academic Article
• Association Between a Literature-Based Genetic Risk Score and Cardiovascular Events in Women  Academic Article
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Academic Article
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Academic Article
• Association between HLA Class I and Class II Alleles and the Outcome of West Nile Virus Infection: An Exploratory Study  Academic Article
• Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample  Academic Article
• Association of DRD4 with attention problems in normal childhood development  Academic Article
• Association of Diabetes With Atrial Fibrillation Phenotype and Cardiac and Neurological Comorbidities: Insights From the Swiss‐AF Study  Academic Article
• Association of heart rate and diabetes among 0.5 million adults in the China Kadoorie biobank: Results from observational and Mendelian randomization analyses  Academic Article
• Association of renal failure with lewis incompatibility after allogeneic bone marrow transplantation  Academic Article
• Atherothrombosis and Thromboembolism: Position Paper from the Second Maastricht Consensus Conference on Thrombosis  Academic Article
• BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays  Academic Article
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Academic Article
• Bayesian methods for meta-analysis of causal relationships estimated using genetic instrumental variables  Academic Article
• Behavioral Phenotyping of Murine Disease Models with the Integrated Behavioral Station (INBEST)  Academic Article
• Benefits and limitations of genome-wide association studies  Academic Article
• Betaine aldehyde dehydrogenase polymorphism in spinach: Genetic and biochemical characterization  Academic Article
• Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age  Academic Article
• Beyond the Brain  Academic Article
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Academic Article
• Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype  Academic Article
• Bioinformatics of antimicrobial resistance in the age of molecular epidemiology  Academic Article
• Biological, clinical and population relevance of 95 loci for blood lipids  Academic Article
• Birth cohorts in asthma and allergic diseases: Report of a NIAID/NHLBI/MeDALL joint workshop  Academic Article
• BldD fromStreptomyces coelicoloris a non-essential global regulator that binds its own promoter as a dimer  Academic Article
• Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case  Academic Article
• Bovine serum transferrin phenotypes AA, D1D1, D2D2, EE: Their carbohydrate compositions and electrophoretic multiplicity  Academic Article
• Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder  Academic Article
• Brief Report: Cross-Cultural Evidence for the Heterogeneity of the Restricted, Repetitive Behaviours and Interests Domain of Autism: A Greek Study  Academic Article
• Brief Report: Relationship Between Non-verbal IQ and Gender in Autism  Academic Article
• CARD15 and IL23R influences Crohnʼs disease susceptibility but not disease phenotype in a Brazilian population  Academic Article
• CCR3  Academic Article
• CFTR2: How will it help care?  Academic Article
• CHIP Deficiency Decreases Longevity, with Accelerated Aging Phenotypes Accompanied by Altered Protein Quality Control  Academic Article
• CK8/18 expression, the basal phenotype, and family history in identifying BRCA1-associated breast cancer in the Ontario site of the Breast Cancer Family Registry  Academic Article
• COPD profiles and treatable traits using minimal resources: identification, decision tree and stability over time  Academic Article
• Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination  Academic Article
• Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories  Academic Article
• Cancer phenomics: RET and PTEN as illustrative models  Academic Article
• Carboxypeptidase B2 and N play different roles in regulation of activated complements C3a and C5a in mice  Academic Article
• Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims  Academic Article
• Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease  Academic Article
• Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy  Academic Article
• Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans  Academic Article
• Cataloguing and characterizing interests in typically developing toddlers and toddlers who develop ASD  Academic Article
• Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis  Academic Article
• Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts  Academic Article
• Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis  Academic Article
• Cellular and Molecular Regulation of Skeletal Muscle Side Population Cells  Academic Article
• Cerebral amyloid angiopathy with and without hemorrhage: Evidence for different disease phenotypes  Academic Article
• Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study  Academic Article
• Challenges in reproducibility of genetic association studies: lessons learned from the obesity field  Academic Article
• Changes in rat and human pepsinogen phenotypes induced by N′-methyl-N′nitro-n-nitrosoguanidine  Academic Article
• Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease  Academic Article
• Changing Paradigms in the Treatment of Severe Asthma: The Role of Biologic Therapies  Academic Article
• Characteristics and determinants of T-cell phenotype normalization in HIV-1-infected individuals receiving long-term antiretroviral therapy  Academic Article
• Characterization of Streptococcus milleri Group Isolates from Expectorated Sputum of Adult Patients with Cystic Fibrosis  Academic Article
• Characterization of Human TK- Cell Lines Transformed to a TK+ Phenotype by Herpes Simplex Virus Type 2 DNA  Academic Article
• Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype  Academic Article
• Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1  Academic Article
• Characterization of human embryonic stem cells with features of neoplastic progression  Academic Article
• Characterization of long RNA-cleaving deoxyribozymes with short catalytic cores: the effect of excess sequence elements on the outcome of in vitro selection  Academic Article
• Characterizing the ASD–ADHD phenotype: measurement structure and invariance in a clinical sample  Academic Article
• Cheats never prosper  Academic Article
• Chemotherapeutic agents doxorubicin and epirubicin induce a procoagulant phenotype on endothelial cells and blood monocytes  Conference Paper
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Academic Article
• Cholinergic expression by a neural stem cell line grafted to the adult medial septum/diagonal band complex  Academic Article
• Cholinesterase Phenotyping: Clinical Aspects and Laboratory Applications  Academic Article
• Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein  Academic Article
• Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency  Academic Article
• Circulating TNF and mitochondrial DNA are major determinants of neutrophil phenotype in the advanced-age, frail elderly  Academic Article
• Citrullinemia: Phenotypic Variations  Academic Article
• Classification of Visual Cortex Plasticity Phenotypes following Treatment for Amblyopia  Academic Article
• Classification of osteoarthritis phenotypes by metabolomics analysis  Academic Article
• Classifying acute leukemia by immunophenotyping: a combined FAB- immunologic classification of AML  Academic Article
• Claudin-Low Breast Cancer; Clinical & Pathological Characteristics  Academic Article
• Clinical and Genetic Analysis of Unclassifiable Inherited Bone Marrow Failure Syndromes  Academic Article
• Clinical evaluation of a hemochromatosis next-generation sequencing gene panel  Academic Article
• Clinical features of facioscapulohumeral muscular dystrophy 2  Academic Article
• Clinical phenotypes of three children with sickle cell disease caused by HbS /Sicilian (δβ) ⁰ ‐thalassemia deletion  Academic Article
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Academic Article
• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12  Academic Article
• Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study  Academic Article
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency  Academic Article
• Clonal Expansion of the Pseudogymnoascus destructans Genotype in North America Is Accompanied by Significant Variation in Phenotypic Expression  Academic Article
• Clonal tracking of hESCs reveals differential contribution to functional assays  Academic Article
• Co-factors, Microbes, and Immunogenetics in Celiac Disease to Guide Novel Approaches for Diagnosis and Treatment  Academic Article
• Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival  Academic Article
• Cofilin Nuclear-Cytoplasmic Shuttling Affects Cofilin-Actin Rod Formation During Stress  Academic Article
• Common DISC1 Polymorphisms Disrupt Wnt/GSK3β Signaling and Brain Development  Academic Article
• Common polymorphisms of cyclooxygenase-2 and prostaglandin E2 receptor and increased risk for acute coronary syndrome in coronary artery disease  Academic Article
• Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations  Academic Article
• Commonalities in the Features of Cancer and Chronic Fatigue Syndrome (CFS): Evidence for Stress-Induced Phenotype Instability?  Academic Article
• Comparative Genetics of the rdar Morphotype in Salmonella  Academic Article
• Comparative analysis of function and interaction of transcription factors in nematodes: Extensive conservation of orthology coupled to rapid sequence evolution  Academic Article
• Comparison of Standardization Methods for the Harmonization of Phenotype Data: An Application to Cognitive Measures  Academic Article
• Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons  Academic Article
• Complex Pseudomonas Population Structure in Cystic Fibrosis Airway Infections  Academic Article
• Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma  Academic Article
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Academic Article
• Comprehensive identification of pleiotropic loci for body fat distribution using the NHGRI‐EBI Catalog of published genome‐wide association studies  Academic Article
• Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements  Academic Article
• Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population  Academic Article
• Condition dependence and the nature of genetic variation for male sex comb bristle number in Drosophila melanogaster  Academic Article
• Conditional Deletion of AP-2β in the Periocular Mesenchyme of Mice Alters Corneal Epithelial Cell Fate and Stratification  Academic Article
• Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the  -subunit of cone specific transducin (GNAT2)  Academic Article
• Conservation of Lotus and Arabidopsis Basic Helix-Loop-Helix Proteins Reveals New Players in Root Hair Development      Academic Article
• Contraception: Endometrial lymphomyeloid cells in abnormal uterine bleeding due to levonorgestrel (Norplant)  Academic Article
• Contribution of 24 obesity-associated genetic variants to insulin resistance, pancreatic beta-cell function and type 2 diabetes risk in the French population  Academic Article
• Contribution of Large Region Joint Associations to Complex Traits Genetics  Academic Article
• Copy number variation in metabolic phenotypes  Academic Article
• Cortical Serotonin Type-2 Receptor Density in Parents of Children with Autism Spectrum Disorders  Academic Article
• Cryptic Genetic Variation in Natural Populations: A Predictive Framework  Academic Article
• Cutting Edge Issues in the Churg–Strauss Syndrome  Academic Article
• Cystathioninuria and Renal Iminoglycinuria in a Pedigree  Academic Article
• Cystinuria: Increased Prevalence in Patients with Mental Disease  Academic Article
• Cytogenetic survey of a hospital for the mentally retarded  Academic Article
• Cytokine responses of peripheral blood mononuclear cells to allergen do not identify asthma or asthma phenotypes  Academic Article
• DHCR7 and Smith-Lemli-Opitz syndrome.  Academic Article
• DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome  Academic Article
• DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome  Academic Article
• DNA methyltransferase 3a mediates developmental thermal plasticity  Academic Article
• DNA-mediated transfer of herpes simplex virus TK gene to human TK- cells: properties of the transformed lines.  Academic Article
• DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients  Academic Article
• Data-driven cognitive phenotypes in subjects with bipolar disorder and their clinical markers of severity  Academic Article
• De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy  Academic Article
• De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European  Academic Article
• Decoding ‘Unnecessary Complexity’: A Law of Complexity and a Concept of Hidden Variation Behind “Missing Heritability” in Precision Medicine  Academic Article
• Decomposing the autism phenotype into familial dimensions  Academic Article
• Defining Aging Phenotypes and Related Outcomes: Clues to Recognize Frailty in Hospitalized Older Patients  Academic Article
• Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Academic Article
• Defining vascular anomaly phenotypes in children based on a systematic literature search: A critical step in developing a single severity score for interventional clinical trials  Academic Article
• Delayed prezygotic isolating mechanisms: evolution with a twist  Academic Article
• Deletion 3q in Two Patients With Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)  Academic Article
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Academic Article
• Deletion of Myeloid GSK3α Attenuates Atherosclerosis and Promotes an M2 Macrophage Phenotype  Academic Article
• Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy?  Academic Article
• Demystifying phenotypes: The comparative genomics of evo-devo  Academic Article
• Dendritic Cells Derived from Murine Colonic Mucosa Have Unique Functional and Phenotypic Characteristics  Academic Article
• Derivation and Initial Validation of Clinical Phenotypes of Children Presenting with Concussion Acutely in the Emergency Department: Latent Class Analysis of a Multi-Center, Prospective Cohort, Observational Study  Academic Article
• Development of Retinoblastoma in the Absence of Telomerase Activity  Academic Article
• Development of a low-cost, user-customizable, high-speed camera  Academic Article
• Developmental Systems Drift and the Drivers of Sex Chromosome Evolution  Academic Article
• Developmental delay in shivering limits thermogenic capacity in juvenile high-altitude deer mice (Peromyscus maniculatus)  Academic Article
• Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant  Academic Article
• Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan  Academic Article
• Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since Infancy  Academic Article
• Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH  Academic Article
• Diagnosis of ‘possible’ mitochondrial disease: an existential crisis  Academic Article
• Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions  Academic Article
• Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data‐driven approach  Academic Article
• Dietary nitrate restores compensatory vasodilation and exercise capacity in response to a compromise in oxygen delivery in the noncompensator phenotype  Academic Article
• Differences between Syrian Hamster Strains in Natural Killer Cell Activity Induced by Infection with Pichinde Virus  Academic Article
• Differences in lymphocyte responsiveness to lymphokines in two inbred strains of Syrian hamster.  Academic Article
• Differentiation of Human Basophils and Mast Cells  Academic Article
• Diphtheria toxin resistance in chinese hamster cells: Genetic and biochemical characteristics of the mutants affected in protein synthesis  Academic Article
• Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype  Academic Article
• Disconnect between sputum neutrophils and other measures of airway inflammation in asthma  Academic Article
• Discordance analysis of Apolipoprotein B and non-high density lipoprotein cholesterol as markers of cardiovascular risk in the INTERHEART study  Academic Article
• Discovering cooperative traits in crop plants  Academic Article
• Disintegrating the fly: A mutational perspective on phenotypic integration and covariation  Academic Article
• Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes  Academic Article
• Distinct Mechanisms of Action of theLozengeLocus inDrosophilaEye and Antennal Development are Suggested by the Analysis of Dominant Enhancers  Academic Article
• Distinct Phenotype Clusters in Childhood Inflammatory Brain Diseases: Implications for Diagnostic Evaluation  Academic Article
• Distinct Phenotypic Adhesion Molecule Expression on Human Cord Blood Progenitors During Early Eosinophilic Commitment: Upregulation of β₇Integrins  Academic Article
• Distribution and Characteristics of Listeria monocytogenes Isolates from Surface Waters of the South Nation River Watershed, Ontario, Canada  Academic Article
• Distribution and prevalence of leukocyte phenotypes in brains of lupus-prone mice  Academic Article
• Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening  Academic Article
• Diverse Evolutionary Trajectories Characterize a Community of RNA-Cleaving Deoxyribozymes: A Case Study into the Population Dynamics of In Vitro Selection  Academic Article
• Diverse hematological phenotypes of β-thalassemia carriers  Academic Article
• Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?  Academic Article
• Do mice bred selectively for high locomotor activity have a greater reliance on lipids to power submaximal aerobic exercise?  Academic Article
• Does Integration of Various Ion Channel Measurements Improve Diagnostic Performance in Cystic Fibrosis?  Academic Article
• Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?  Academic Article
• Does the clinical presentation and extent of venous thrombosis predict likelihood and type of recurrence? A patient‐level meta‐analysis  Academic Article
• Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution  Academic Article
• Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases  Academic Article
• Dual molecular diagnoses in a neurometabolic specialty clinic  Academic Article
• Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44  Academic Article
• Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis  Academic Article
• EAACI Biologicals Guidelines—Recommendations for severe asthma  Academic Article
• EXPERIMENTAL EVOLUTION OF THE CAENORHABDITIS ELEGANS SEX DETERMINATION PATHWAY  Academic Article
• Early Life Exposure to Fructose and Offspring Phenotype: Implications for Long Term Metabolic Homeostasis  Academic Article
• Early and lethal neurodegeneration with myasthenic and myopathic features  Academic Article
• Early infancy microbial and metabolic alterations affect risk of childhood asthma  Academic Article
• Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype  Academic Article
• Effect of chronic contractile activity on mRNA stability in skeletal muscle  Academic Article
• Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A  Academic Article
• Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants  Academic Article
• Effects of Maternal Dexamethasone Treatment Early in Pregnancy on Glucocorticoid Receptors in the Ovine Placenta  Academic Article
• Effects of a Short Course of Inhaled Corticosteroids in Noneosinophilic Asthmatic Subjects  Academic Article
• Effects of lifelong testosterone exposure on health and disease using Mendelian randomization  Academic Article
• Effects of misclassification on estimates of relative risk in family history studies  Academic Article
• Effects of rearing environment on adrenal weights, sexual development, and behavior in gerbils: An examination of Richter's domestication hypothesis.  Academic Article
• Elbow and Noc define a family of zinc finger proteins controlling morphogenesis of specific tracheal branches  Academic Article
• Electrocution-induced Brugada phenocopy  Academic Article
• Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies  Conference Paper
• Embryonic and Neonatal Phenotyping of Genetically Engineered Mice  Academic Article
• Embryonic critical windows: changes in incubation temperature alter survival, hatchling phenotype, and cost of development in lake whitefish (Coregonus clupeaformis)  Academic Article
• Endothelial cell tumors develop in transgenic mice carrying polyoma virus middle T oncogene  Academic Article
• Environmental influence on development, behavior, and endocrine morphology of gerbils  Academic Article
• Environmental variation impacts trait expression and selection in the legume–rhizobium symbiosis  Academic Article
• Eosinophilic Asthma  Academic Article
• Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy  Academic Article
• Epidermal hyperplasia and expansion of the interfollicular stem cell compartment in mutant mice with a C-terminal truncation of Patched1  Academic Article
• Epigenomic alterations define lethal CIMP-positive ependymomas of infancy  Academic Article
• Epinephrine causes a reduction in lymph node cell output in sheep  Academic Article
• Epithelial-Restricted Gene Profile of Primary Cultures from Human Prostate Tumors: A Molecular Approach to Predict Clinical Behavior of Prostate Cancer  Academic Article
• Evaluation of A2BP1 as an Obesity Gene  Academic Article
• Evaluation of Genes Encoding for the Transient Outward Current (Ito) Identifies the KCND2 Gene as a Cause of J-Wave Syndrome Associated With Sudden Cardiac Death  Academic Article
• Evaluation of an automated immunoassay procedure for APO-LDL for phenotyping type II hyperlipoproteinemia  Academic Article
• Evaluation of the Disease Liability of CFTR Variants  Academic Article
• Evidence that Herpes Simplex Virus VP16 Is Required for Viral Egress Downstream of the Initial Envelopment Event  Academic Article
• Evolution of Drosophila sex comb length illustrates the inextricable interplay between selection and variation  Academic Article
• Evolution of sociability by artificial selection ^*  Academic Article
• Evolutionary loss of the rdar morphotype in Salmonella as a result of high mutation rates during laboratory passage  Academic Article
• Evolutionary rates for multivariate traits: the role of selection and genetic variation  Academic Article
• Exaggerated Trait Growth in Insects  Academic Article
• Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia  Academic Article
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Academic Article
• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Academic Article
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Academic Article
• Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase  Academic Article
• Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase  Academic Article
• Exploring sensory phenotypes in autism spectrum disorder  Academic Article
• Expression of a Mutation Causing Hypertrophic Cardiomyopathy Disrupts Sarcomere Assembly in Adult Feline Cardiac Myocytes  Academic Article
• Expression of delayed toxicity and lethal mutations in the progeny of human cells surviving exposure to radiation and other environmental mutagens  Conference Paper
• Expression of the adenovirus E1A oncogene during cell transformation is sufficient to induce susceptibility to lysis by host inflammatory cells.  Academic Article
• External validation of the FIRST trial’s simplified frailty score in a population-based cohort  Academic Article
• Extremes of Unexplained Variation as a Phenotype  Academic Article
• FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects  Academic Article
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Academic Article
• Factors independently associated with cardiac troponin I levels in young and healthy adults from the general population  Academic Article
• Fanconi’s Anemia Effect or Sickle Cell Anemia Effect: That is the Question  Academic Article
• Fast spin-echo for multiple mouse magnetic resonance phenotyping  Academic Article
• Female Choice or Male Sex Drive? The Advantages of Male Body Size during Mating in Drosophila Melanogaster  Academic Article
• Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans  Academic Article
• Fetal hemoglobin in sickle cell anemia: a glass half full?  Academic Article
• Fish Oil Supplementation in Pregnancy Modifies Neonatal Progenitors at Birth in Infants at Risk of Atopy  Academic Article
• Fitness consequences of plants growing with siblings: reconciling kin selection, niche partitioning and competitive ability  Academic Article
• Fitness distribution and transgressive segregation across 40 environments in a hybrid progeny population of the human-pathogenic yeastCryptococcus neoformans  Academic Article
• Flight muscle and heart phenotypes in the high-flying ruddy shelduck  Academic Article
• Fluctuation domains in adaptive evolution  Academic Article
• Fluoroquinolone Resistance in Clinical Isolates of Streptococcus pneumoniae : Contributions of Type II Topoisomerase Mutations and Efflux to Levels of Resistance  Academic Article
• Formation of biofilms under phage predation: considerations concerning a biofilm increase  Academic Article
• Frailty and Fracture, Disability, and Falls: A Multiple Country Study From the Global Longitudinal Study of Osteoporosis in Women  Academic Article
• Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer  Academic Article
• Functional Enterospheres Derived In Vitro from Human Pluripotent Stem Cells  Academic Article
• Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462  Academic Article
• Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients  Academic Article
• GLI3 Repressor Controls Nephron Number via Regulation of Wnt11 and Ret in Ureteric Tip Cells  Academic Article
• GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B₆DEPENDENCY WITH SEIZURES  Academic Article
• GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia  Academic Article
• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling  Academic Article
• Gene Dispensability in Escherichia coli Grown in Thirty Different Carbon Environments  Academic Article
• Gene regulatory networks and the role of robustness and stochasticity in the control of gene expression  Academic Article
• Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci  Academic Article
• Genetic Analysis of Mutations Affecting pckA Regulation in Rhizobium (Sinorhizobium) meliloti  Academic Article
• Genetic Control of Vulval Development inCaenorhabditis briggsae  Academic Article
• Genetic Etiology of Isolated Low HDL Syndrome  Academic Article
• Genetic Factors and Genotype-Environment Interactions Contribute to Variation in Melanin Production in the Fungal Pathogen Cryptococcus neoformans  Academic Article
• Genetic Modifiers of Lung Disease in Cystic Fibrosis  Academic Article
• Genetic Testing in the Evaluation of Unexplained Cardiac Arrest  Academic Article
• Genetic Variants Associated With Myocardial Infarction Risk Factors in Over 8000 Individuals From Five Ethnic Groups  Academic Article
• Genetic Variation, Simplicity, and Evolutionary Constraints for Function-Valued Traits  Academic Article
• Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens.  Academic Article
• Genetic and Chemical Screening in Human Blood Serum Reveals Unique Antibacterial Targets and Compounds against Klebsiella pneumoniae  Academic Article
• Genetic and Neurodevelopmental Influences in Autistic Disorder  Academic Article
• Genetic and biochemical studies with the adenosine analogs toyocamycin and tubercidin: Mutation at the adenosine kinase locus in Chinese hamster cells  Academic Article
• Genetic and environmental canalization are not associated among altitudinally varying populations of Drosophila melanogaster  Academic Article
• Genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors (GAPP)  Academic Article
• Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti  Academic Article
• Genetic bases of hypertriglyceridemic phenotypes  Academic Article
• Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair  Academic Article
• Genetic identification of effectors downstream of Neu (ErbB-2) autophosphorylation sites in a Drosophila model  Academic Article
• Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene-based tests, genome-wide variation, and SNP heritability  Academic Article
• Genetic, structural and clinical analysis of spastic paraplegia 4  Academic Article
• Genetically decreased vitamin D and risk of Alzheimer disease  Academic Article
• Genetically modified dendritic cells prime autoreactive T cells through a pathway independent of CD40L and interleukin 12: implications for cancer vaccines.  Academic Article
• Genetics, Morphology, Advertisement Calls, and Historical Records Distinguish Six New Polyploid Species of African Clawed Frog (Xenopus, Pipidae) from West and Central Africa  Academic Article
• Genome duplication events have led to a diversification in the CPT I gene family in fish  Academic Article
• Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias  Academic Article
• Genome-Wide Association Studies across Environmental and Genetic Contexts Reveal Complex Genetic Architecture of Symbiotic Extended Phenotypes  Academic Article
• Genome-Wide Association Studies of Hypertension: Have They Been Fruitful?  Academic Article
• Genome-Wide Association Studies—Data Generation, Storage, Interpretation, and Bioinformatics  Academic Article
• Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes  Academic Article
• Genome-wide Linkage Analysis for Severe Obesity in French Caucasians Finds Significant Susceptibility Locus on Chromosome 19q  Academic Article
• Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2  Academic Article
• Genome-wide association study of alcohol use disorder identification test (AUDIT) scores in 20 328 research participants of European ancestry  Academic Article
• Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets  Academic Article
• Genome-wide meta-analyses identify multiple loci associated with smoking behavior  Academic Article
• Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture  Academic Article
• Genomes within genomes: nested symbiosis and its implications for plant evolution  Academic Article
• Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders  Academic Article
• Genomic approaches to bleeding disorders  Conference Paper
• Genotype and phenotype in 12 additional individuals with SATB2 -associated syndrome  Academic Article
• Genotype-by-environment interactions for cuticular hydrocarbon expression inDrosophila simulans  Academic Article
• Genotype-guided versus standard vitamin K antagonist dosing algorithms in patients initiating anticoagulation  Academic Article
• Genotypes and immunophenotypes of Hodgkin's disease-derived cell lines.  Academic Article
• Genotypes, phenotypes and whole genome sequence: Approaches from theMy Life Our Futurehaemophilia project  Academic Article
• Geriatric Assessment and Frailty Scores Predict Mortality in Myeloma: Systematic Review and Meta-analysis  Academic Article
• Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer  Academic Article
• Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes  Academic Article
• Glycoproteins E and I facilitate neuron-to-neuron spread of herpes simplex virus  Academic Article
• Gross motor problems and psychiatric disorders in children  Academic Article
• Growth inhibition of prostate cancer xenografts by halofuginone  Academic Article
• Guanosine-induced decrease in side population of lung cancer cells: lack of correlation with ABCG2 expression.  Academic Article
• Gut commensal microvesicles reproduce parent bacterial signals to host immune and enteric nervous systems  Academic Article
• HDACi Delivery Reprograms Tumor-Infiltrating Myeloid Cells to Eliminate Antigen-Loss Variants  Academic Article
• HL-A genotype of patients with acute lymphoblastic leukaemia  Academic Article
• HLA-A,B,C and B-lymphocyte alloantigens in insulin-dependent diabetes.  Academic Article
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Academic Article
• Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an  -thalassemia phenotype  Academic Article
• Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family  Academic Article
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Academic Article
• Hb S/β°-Thalassemia due to the ˜1.4-kb deletion is associated with a relatively mild phenotype  Academic Article
• Helper-dependent adenoviral vectors mediate therapeutic factor VIII expression for several months with minimal accompanying toxicity in a canine model of severe hemophilia A  Academic Article
• Hemoglobin E-β-Thalassemia: Progress Report from the International Study Group  Conference Paper
• Hemoglobin E/beta Thalassemia: The Canadian Experience  Academic Article
• Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood.  Academic Article
• Heparin binds to human monocytes and modulates their procoagulant activities and secretory phenotypes. Effects of histidine-rich glycoprotein  Academic Article
• Heterogeneity in phenotypic and genotypic characteristics among strains of Hafnia alvei  Academic Article
• Heterogeneity of serum cholinesterase  Academic Article
• Heterogeneous Proliferative Characteristics of Human Adult Lung Fibroblast Lines and Clonally Derived Fibroblasts from Control and Fibrotic Tissue  Academic Article
• Heterologous Complementation Reveals a Specialized Activity for BacA in the Medicago–Sinorhizobium meliloti Symbiosis  Academic Article
• High phenotypic correlations among siblings with autism and pervasive developmental disorders  Academic Article
• High-altitude ancestry and hypoxia acclimation have distinct effects on exercise capacity and muscle phenotype in deer mice  Academic Article
• Histidine-rich glycoprotein: is there a role in hemostasis or immune function?  Academic Article
• How to Diagnose and Phenotype Asthma  Academic Article
• How to Use an Article About Genetic Association  Academic Article
• How well do you know your mutation? Complex effects of genetic background on expressivity, complementation, and ordering of allelic effects  Academic Article
• Human Adipose Tissue Macrophages Display Activation of Cancer-related Pathways  Academic Article
• Human Embryonic Stem Cell-Derived Hematopoietic Cells Maintain Core Epigenetic Machinery of the Polycomb Group/Trithorax Group Complexes Distinctly from Functional Adult Hematopoietic Stem Cells  Academic Article
• Human acute myeloid leukemia stem cells  Academic Article
• Hundreds of variants clustered in genomic loci and biological pathways affect human height  Academic Article
• Hybridization in human evolution: Insights from other organisms  Academic Article
• Hybrids and hybridization in the Cryptococcus neoformans and Cryptococcus gattii species complexes  Academic Article
• Hypertriglyceridemic Waist Phenotype and Chronic Kidney Disease in a Chinese Population Aged 40 Years and Older  Academic Article
• Hypoxia inducible factor (HIF)-2α is required for the development of the catecholaminergic phenotype of sympathoadrenal cells  Academic Article
• IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE  Academic Article
• IL-15 has innate anti-tumor activity independent of NK and CD8 T cells  Academic Article
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Academic Article
• Identification of Direct p73 Target Genes Combining DNA Microarray and Chromatin Immunoprecipitation Analyses  Academic Article
• Identification of Genetic Loci Underlying the Phenotypic Constructs of Autism Spectrum Disorders  Academic Article
• Identification of Novel Causal Blood Biomarkers Linking Metabolically Favorable Adiposity With Type 2 Diabetes Risk  Academic Article
• Identification of QTLs Associated with Virulence Related Traits and Drug Resistance in Cryptococcus neoformans  Academic Article
• Identification of a cancer stem cell in human brain tumors.  Academic Article
• Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism  Academic Article
• Identification of hemoglobin E by the isopropanol solubility test  Academic Article
• Identification of older adults with frailty in the Emergency Department using a frailty index: results from a multinational study  Academic Article
• Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay  Academic Article
• Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts  Academic Article
• Identifying pain susceptibility phenotypes in knee osteoarthritis.  Academic Article
• Immobilization of Intact Phage and Phage-Derived Proteins for Detection and Biocontrol Purposes  Chapter
• Immune Biomarkers Predictive of Respiratory Viral Infection in Elderly Nursing Home Residents  Academic Article
• Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors  Academic Article
• Impact of Growth Hormone Supplementation on Adult Height in Turner Syndrome: Results of the Canadian Randomized Controlled Trial  Academic Article
• Impact of Treadmill Running and Sex on Hippocampal Neurogenesis in the Mouse Model of Amyotrophic Lateral Sclerosis  Academic Article
• Impaired alternative macrophage differentiation of peripheral blood mononuclear cells from obese subjects  Academic Article
• Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population  Academic Article
• Important research questions in allergy and related diseases: nonallergic rhinitis: a GA2LEN paper  Academic Article
• Impulsivity-based thrifty eating phenotype and the protective role of n-3 PUFAs intake in adolescents  Academic Article
• In Vivo Generation of Neural Tumors from Neoplastic Pluripotent Stem Cells Models Early Human Pediatric Brain Tumor Formation  Academic Article
• Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample  Academic Article
• Inclusive fitness theory and eusociality  Academic Article
• Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull  Academic Article
• Individual Cryptic Scaling Relationships and the Evolution of Animal Form  Conference Paper
• Individual susceptibility to hypoperfusion and reductions in exercise performance when perfusion pressure is reduced: evidence for vasodilator phenotypes  Academic Article
• Individuality in Bacteria  Academic Article
• Infant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years  Academic Article
• Influenza virus H1N1 activates platelets through FcγRIIA signaling and thrombin generation  Academic Article
• Informative phenotypes for genetic studies of psychiatric disorders  Academic Article
• Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis  Academic Article
• Inhibition inversion in the AACC selected method for serum cholinesterase.  Academic Article
• Innate Immune Cytokines, Fibroblast Phenotypes, and Regulation of Extracellular Matrix in Lung  Academic Article
• Insights From Invasive Cardiopulmonary Exercise Testing of Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome  Conference Paper
• Insights into the Development and Evolution of Exaggerated Traits Using De Novo Transcriptomes of Two Species of Horned Scarab Beetles  Academic Article
• Integrative Physiology: At the Crossroads of Nutrition, Microbiota, Animal Physiology, and Human Health  Academic Article
• Integrins Regulate Responsiveness to Slit Repellent Signals  Academic Article
• Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study  Academic Article
• International ERS/ATS guidelines on definition, evaluation and treatment of severe asthma  Academic Article
• Intracerebral haemorrhage in previously healthy adults following aerobic and anaerobic exercise  Academic Article
• Intraepithelial leukocytes contain a unique subpopulation of NK-like cytotoxic cells active in the defense of gut epithelium to enteric murine coronavirus.  Academic Article
• Intragenic suppression of integration-defective IS10 transposase mutants.  Academic Article
• Intrauterine position effects on sexually dimorphic asymmetries of Mongolian gerbils: Testosterone, eye opening, and paw preference  Academic Article
• Intravenous (IV) anti-D and IV immunoglobulin achieve acute platelet increases by different mechanisms: modulation of cytokine and platelet responses to IV anti-D by Fcγ RIIa and Fcγ RIIIa polymorphisms  Academic Article
• Intrinsic reproductive isolating mechanisms in the maintenance of a hybrid zone between ecologically divergent subspecies  Academic Article
• Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study  Academic Article
• Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach  Academic Article
• Invited Commentary: Consolidating Data Harmonization--How to Obtain Quality and Applicability?  Academic Article
• Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation  Academic Article
• Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome  Academic Article
• K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population  Academic Article
• Krüppel-like factor 1: hematologic phenotypes associated withKLF1gene mutations  Academic Article
• Lack of Both Types 1 and 2 Cytokines, Tissue Inflammatory Responses, and Immune Protection During Pulmonary Infection byMycobacterium bovisBacille Calmette-Guérin in IL-12-Deficient Mice  Academic Article
• Large meta-analysis of genome-wide association studies identifies five loci for lean body mass  Academic Article
• Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci  Academic Article
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Academic Article
• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Academic Article
• Lengthened G1 Phase Indicates Differentiation Status in Human Embryonic Stem Cells  Academic Article
• Letter to the Editor  Academic Article
• Life history predicts flight muscle phenotype and function in birds  Academic Article
• Lifetime selection on a hypoallometric size trait in the spotted hyena  Academic Article
• Limited plasticity in the phenotypic variance-covariance matrix for male advertisement calls in the black field cricket,Teleogryllus commodus  Academic Article
• Longitudinal Data Analysis in Genome-Wide Association Studies  Academic Article
• Loss of Kaiso expression in breast cancer cells prevents intra-vascular invasion in the lung and secondary metastasis  Academic Article
• Loss-of-Function KCNE2 Variants  Academic Article
• Loss-of-Function Mutations in MC4R Are Very Rare in the Greek Severely Obese Adult Population  Academic Article
• Lung clearance index predicts persistence of preschool wheeze  Academic Article
• Ly6C^hi Monocytes Direct Alternatively Activated Profibrotic Macrophage Regulation of Lung Fibrosis  Academic Article
• Lys 42/43/44 and Arg 12 of thrombin-activable fibrinolysis inhibitor comprise a thrombomodulin exosite essential for its antifibrinolytic potential  Academic Article
• M2-polarized and tumor-associated macrophages alter NK cell phenotype and function in a contact-dependent manner  Academic Article
• MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review  Academic Article
• Machine learning and big data analytics in bipolar disorder: A position paper from the International Society for Bipolar Disorders Big Data Task Force  Academic Article
• Magnetic resonance imaging for detection and analysis of mouse phenotypes  Academic Article
• Mammosphere-forming cells from breast cancer cell lines as a tool for the identification of CSC-like- and early progenitor-targeting drugs  Academic Article
• Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines  Academic Article
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Academic Article
• Mast cell heterogeneity: derivation and function, with emphasis on the intestine  Academic Article
• Maternal High-Fat Diet-Induced Loss of Fetal Oocytes Is Associated with Compromised Follicle Growth in Adult Rat Offspring1  Academic Article
• Maternal Undernutrition Significantly Impacts Ovarian Follicle Number and Increases Ovarian Oxidative Stress in Adult Rat Offspring  Academic Article
• Matrix Metalloproteinases are required for membrane motility and lumenogenesis during Drosophila heart development  Academic Article
• Matrix abnormalities in pulmonary fibrosis  Academic Article
• Measurement equivalence of the autism symptom phenotype in children and youth  Academic Article
• Mechanisms and therapeutic strategies for non‐T2 asthma  Academic Article
• Mechanisms of dyspnoea relief following radiation treatment in a patient with severe COPD  Academic Article
• Mechanisms of innate immune activation by gluten peptide p31-43 in mice  Academic Article
• Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease  Academic Article
• Mesectodermal cell fate analysis in Drosophila midline mutants  Academic Article
• Metabolic modelling reveals the specialization of secondary replicons for niche adaptation in Sinorhizobium meliloti  Academic Article
• Metformin-induced metabolic reprogramming of chemoresistant ALDHbright breast cancer cells  Academic Article
• Mice with a Targeted Mutation of Patched2 Are Viable but Develop Alopecia and Epidermal Hyperplasia  Academic Article
• Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability  Academic Article
• Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A)  Academic Article
• Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates  Academic Article
• Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities  Academic Article
• Modeling the Phenotypic Architecture of Autism Symptoms from Time of Diagnosis to Age 6  Academic Article
• Modulation of phenotypic and functional maturation of dendritic cells by intestinal bacteria and gliadin: relevance for celiac disease  Academic Article
• Modulation of the Anchorage-Independent Phenotype of Human Lung Fibroblasts Obtained from Fibrotic Tissue Following Culture with Retinoid and Corticosteroid  Academic Article
• Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences  Academic Article
• Molecular Diagnosis of Myopathies  Academic Article
• Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder  Academic Article
• Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression  Academic Article
• Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.  Academic Article
• Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation  Academic Article
• Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects  Academic Article
• Mothering begets mothering  Academic Article
• Mouse models of immune dysfunction: their neuroanatomical differences reflect their anxiety-behavioural phenotype  Academic Article
• Moving the dial on identifying endotypes of asthma from early life  Academic Article
• Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis  Academic Article
• Multidimensional latent structure of risk-related phenotypes in healthy young adults.  Academic Article
• Multiparameter comparisons of embryoid body differentiation toward human stem cell applications  Academic Article
• Multiple interactions between SRm160 and SR family proteins in enhancer-dependent splicing and development of C. elegans  Academic Article
• Multivariate analysis of complex gene expression and clinical phenotypes with genetic marker data  Academic Article
• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Academic Article
• Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype  Academic Article
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Academic Article
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly  Academic Article
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Academic Article
• Mutations in the genestand still disrupt germ cell differentiation inDrosophila ovaries  Academic Article
• Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants  Academic Article
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Academic Article
• Mutual regulation of the Drosophila disconnected (disco) and Distal-less (Dll) genes contributes to proximal-distal patterning of antenna and leg  Academic Article
• Mycobacteria and human heat shock protein—specific cytotoxic t lymphocytes in rheumatoid synovial inflammation  Academic Article
• Myeloid dendritic cells type 2 in allergic asthma  Conference Paper
• Myostatin promotes a fibrotic phenotypic switch in multipotent C3H 10T1/2 cells without affecting their differentiation into myofibroblasts  Academic Article
• NADP+ -dependent malic enzyme of Rhizobium meliloti  Academic Article
• NAT2 genetic polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in Chinese community population  Academic Article
• NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as intermediate phenotypes for nicotine dependence  Academic Article
• NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases  Academic Article
• Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons  Academic Article
• Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome  Academic Article
• Nature, nurture or nutrition? Impact of maternal nutrition on maternal care, offspring development and reproductive function  Academic Article
• Negative regulation of sigma 54-dependent dctA expression by the transcriptional activator DctD  Academic Article
• Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in culture  Academic Article
• Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact  Academic Article
• Neuronal loss and β-amyloid removal in the amygdala of people with Down syndrome☆  Academic Article
• New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome  Academic Article
• New interventions in asthma including bronchial thermoplasty  Academic Article
• New treatment paradigms for ADPKD: moving towards precision medicine  Academic Article
• Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia  Academic Article
• Non-canonical Wnt signals are modulated by the Kaiso transcriptional repressor and p120-catenin  Academic Article
• Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene  Academic Article
• Novel Drug Targets for Ischemic Stroke Identified Through Mendelian Randomization Analysis of the Blood Proteome  Academic Article
• Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease  Academic Article
• Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)  Academic Article
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Academic Article
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Academic Article
• Novel mutants of CHO cells resistant to adenosine analogs and containing biochemically altered form of adenosine kinase in cell extracts  Academic Article
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Academic Article
• Obsessive‐compulsive disorder in children and youth: neurocognitive function in clinic and community samples  Academic Article
• On inferring evolutionary stability in finite populations using infinite population models  Academic Article
• On the Accessibility of Adaptive Phenotypes of a Bacterial Metabolic Network  Academic Article
• Oncostatin M overexpression induces skin inflammation but is not required in the mouse model of imiquimod-induced psoriasis-like inflammation  Academic Article
• Open-Source High-Throughput Phenomics of Bacterial Promoter-Reporter Strains  Academic Article
• Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma  Academic Article
• Outcome of patients who develop acute leukemia or myelodysplasia as a second malignancy after solid tumors treated surgically or with strategies that include chemotherapy and/or radiation  Academic Article
• Overexpression of OSM and IL-6 impacts the polarization of pro-fibrotic macrophages and the development of bleomycin-induced lung fibrosis  Academic Article
• Overexpression of the dctA gene in Rhizobium meliloti: effect on transport of C₄ dicarboxylates and symbiotic nitrogen fixation  Conference Paper
• Oxidative stress and antioxidant enzyme upregulation in SOD1-G93A mouse skeletal muscle  Academic Article
• Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders  Academic Article
• PDZK1 in leukocytes protects against cellular apoptosis and necrotic core development in atherosclerotic plaques in high fat diet fed ldl receptor deficient mice  Academic Article
• PM10-stimulated airway epithelial cells activate primary human dendritic cells independent of uric acid: Application of anin vitromodel system exposing dendritic cells to airway epithelial cell-conditioned media  Academic Article
• PSA affects prostate cancer cell invasion in vitro and induces an osteoblastic phenotype in bone in vivo  Academic Article
• Pain Susceptibility Phenotypes in Those Free of Knee Pain With or at Risk of Knee Osteoarthritis: The Multicenter Osteoarthritis Study  Academic Article
• Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene  Academic Article
• Parasitic Manipulation of Hosts' Phenotype, or How to Make a Zombie--An Introduction to the Symposium  Academic Article
• Parental and child genetic contributions to obesity traits in early life based on 83 loci validated in adults: the FAMILY study  Academic Article
• Partial monosomy 1q43 and partial trisomy 20q13.2: a case report  Academic Article
• Pathbase: a database of mutant mouse pathology  Academic Article
• Pathbase: a new reference resource and database for laboratory mouse pathology  Academic Article
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• Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution  Academic Article
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• Temperament and its Relationship to Autistic Symptoms in a High-Risk Infant Sib Cohort  Academic Article
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• Temperature during embryonic development has persistent effects on thermal acclimation capacity in zebrafish  Academic Article
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