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  Journal Articles
• 17HSD 2 may be higher in African-American breast cancer and is associated with estrogen receptor-negative tumors.  Journal Articles
• 4-phenylbutyrate and valproate treatment attenuates the progression of atherosclerosis and stabilizes existing plaques  Journal Articles
• 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  Journal Articles
• CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency  Journal Articles
• DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome  Journal Articles
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Journal Articles
• In VivoMagnetic Resonance Imaging and Semiautomated Image Analysis Extend the Brain Phenotype forcdf/cdfMice  Journal Articles
• COL4A2‐Related Disorder Presenting in Adulthood With Rhabdomyolysis  Journal Articles
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Journal Articles
• PM10‐stimulated airway epithelial cells activate primary human dendritic cells independent of uric acid: Application of an in vitro model system exposing dendritic cells to airway epithelial cell‐conditioned media  Journal Articles
• A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states  Journal Articles
• A Computable Phenotype for Autosomal Dominant Polycystic Kidney Disease  Journal Articles
• A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder  Journal Articles
• A Law of Redundancy Compounds the Problem of Cancer and Precision Medicine  Journal Articles
• A Male Phenotype With Aicardi Syndrome  Journal Articles
• A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy  Journal Articles
• 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  Journal Articles
• A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus  Journal Articles
• A Poor Prognostic ALK Phenotype: A Review of Molecular Markers of Poor Prognosis in ALK Rearranged Nonsmall Cell Lung Cancer.  Journal Articles
• A Population-Based Study of Dystrophin Mutations in Canada  Journal Articles
• A Prospective Case Series of High-risk Infants who Developed Autism  Journal Articles
• A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment  Journal Articles
• A Role of p73 in Mitotic Exit  Journal Articles
• A STUDY OF CANALIZATION AND DEVELOPMENTAL STABILITY IN THE STERNOPLEURAL BRISTLE SYSTEM OF DROSOPHILA MELANOGASTER  Journal Articles
• A cell-specific regulatory region of the human ABO blood group gene regulates the neighborhood gene encoding odorant binding protein 2B  Journal Articles
• A comparison of pravastatin and gemfibrozil in the treatment of dyslipoproteinemia in patients with non-insulin-dependent diabetes mellitus  Journal Articles
• A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease  Journal Articles
• A consensus-based framework for conducting and reporting osteoarthritis phenotype research  Journal Articles
• A doubtful relationship between tyrosine tRNA and suppression of the vermilion mutant in Drosophila  Journal Articles
• A fatal lymphoproliferative disorder with a suppressor T-cell phenotype. Neoplastic, reactive, or both?  Journal Articles
• A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation  Journal Articles
• A general mechanism for conditional expression of exaggerated sexually‐selected traits  Journal Articles
• A genetic link between prepregnancy body mass index, postpartum weight retention, and offspring weight in early childhood  Journal Articles
• A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees  Journal Articles
• A genotype-to-phenotype map of in vitro selected RNA-cleaving DNAzymes: implications for accessing the target phenotype  Journal Articles
• A human cell line that maintains telomeres in the absence of telomerase and of key markers of ALT  Journal Articles
• A large-scale candidate gene association study of age at menarche and age at natural menopause  Journal Articles
• A method to estimate the contribution of rare coding variants to complex trait heritability  Journal Articles
• A method to estimate the contribution of regional genetic associations to complex traits from summary association statistics  Journal Articles
• A multiplexable assay for screening antibiotic lethality against drug-tolerant bacteria  Journal Articles
• A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family  Journal Articles
• A newly discovered class of human hematopoietic cells with SCID-repopulating activity  Journal Articles
• A novel assay for improved detection of sputum periostin in patients with asthma  Journal Articles
• A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction  Journal Articles
• A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies  Journal Articles
• A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene  Journal Articles
• A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features  Journal Articles
• A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths  Journal Articles
• A phenome-wide association study of a lipoprotein-associated phospholipase A₂loss-of-function variant in 90 000 Chinese adults  Journal Articles
• A phosphate transport system is required for symbiotic nitrogen fixation by Rhizobium meliloti  Journal Articles
• A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia  Journal Articles
• A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.  Journal Articles
• A review of the empirical evidence for costs of plasticity in ectothermic animals.  Journal Articles
• A robust method to estimate regional polygenic correlation under misspecified linkage disequilibrium structure  Journal Articles
• A simplified diagnosis algorithm for dysbetalipoproteinemia  Journal Articles
• A standardised method for interpreting the association between mutations and phenotypic drug resistance inMycobacterium tuberculosis  Journal Articles
• A survey of P1-antibodies in Scottish pigeon fanciers.  Journal Articles
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Journal Articles
• ALTITUDINAL CLINAL VARIATION IN WING SIZE AND SHAPE IN AFRICANDROSOPHILA MELANOGASTER: ONE CLINE OR MANY?  Journal Articles
• 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.  Journal Articles
• AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle  Journal Articles
• APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia  Journal Articles
• AP‐2α is required after lens vesicle formation to maintain lens integrity  Journal Articles
• Aberrant Epigenetic Regulation: A Central Contributor to Lung Carcinogenesis and a New Therapeutic Target  Journal Articles
• Abnormal enzyme phenotype (e1 a e1 f): Normal response to succinylcholine  Journal Articles
• Absence of compensatory vasodilation with perfusion pressure challenge in exercise: evidence for and implications of the noncompensator phenotype  Journal Articles
• Acclimation of the crucifer Eutrema salsugineum to phosphate limitation is associated with constitutively high expression of phosphate‐starvation genes  Journal Articles
• Accuracy and Biological Variation of Human Serum Paraoxonase 1 Activity and Polymorphism (Q192R) by Kinetic Enzyme Assay  Journal Articles
• Acetylation phenotype and cytochrome P450IA2 phenotype are unlikely to be associated with peripheral arterial disease  Journal Articles
• Active metabolite concentration of clopidogrel in patients taking different doses of aspirin: results of the interaction trial  Journal Articles
• Acute exacerbations of progressive-fibrosing interstitial lung diseases  Journal Articles
• Adaptationism – how to carry out an exaptationist program  Journal Articles
• Adenosine Kinase Deficiency Is Associated with Developmental Abnormalities and Reduced Transmethylation  Journal Articles
• Adiponectin is expressed by skeletal muscle fibers and influences muscle phenotype and function  Journal Articles
• Admixture mapping of male nuptial colour and body shape in a recently formed hybrid population of threespine stickleback  Journal Articles
• Advances in Genomic Analysis of Stroke  Journal Articles
• Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy  Journal Articles
• Adverse metabolic phenotype of adolescent girls with non‐alcoholic fatty liver disease plus polycystic ovary syndrome compared with other girls and boys  Journal Articles
• Age differences in arterial and venous extra-cerebral blood flow in healthy adults: contributions of vascular risk factors and genetic variants  Journal Articles
• Age-Related Resistance inArabidopsis thalianaInvolves the MADS-Domain Transcription Factor SHORT VEGETATIVE PHASE and Direct Action of Salicylic Acid onPseudomonas syringae  Journal Articles
• Airway smooth muscle in asthma: Phenotype plasticity and function  Conferences
• Alexithymia in Parents of Children with Autism Spectrum Disorder  Journal Articles
• Allelic and phenotypic spectrum of plasma triglycerides  Journal Articles
• Allergen bronchoprovocation test: an important research tool supporting precision medicine  Journal Articles
• Allergen challenge, eosinophils and the long road to asthma endotypes.  Journal Articles
• Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling  Journal Articles
• An ABC-Type Cobalt Transport System Is Essential for Growth of Sinorhizobium melilotiat Trace Metal Concentrations  Journal Articles
• An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia  Journal Articles
• An Intact Intermediate Filament Network Is Required for Collateral Sprouting of Small Diameter Nerve Fibers  Journal Articles
• An Overview of the Heparin-Induced Thrombocytopenia Syndrome  Journal Articles
• An anti-CRISPR from a virulent streptococcal phage inhibits Streptococcus pyogenes Cas9  Journal Articles
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids  Journal Articles
• Analysis of Beta-Cell Gene Expression Reveals Inflammatory Signaling and Evidence of Dedifferentiation following Human Islet Isolation and Culture  Journal Articles
• Analysis of C₄‐dicarboxylate transport genes in Rhizobium meliloti  Journal Articles
• Analysis of a 1600-kilobase Rhizobium meliloti megaplasmid using defined deletions generated in vivo.  Journal Articles
• Analysis of tRNAs during the development of Drosophila  Journal Articles
• 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  Journal Articles
• Analytical strategies to include the X‐chromosome in variance heterogeneity analyses: Evidence for trait‐specific polygenic variance structure  Journal Articles
• Another Bacillus sphaericus serotype harbouring strains very toxic to mosquito larvae: Serotype H6  Journal Articles
• Antibodies Encoded by FCRL4-Bearing Memory B Cells Preferentially Recognize Commensal Microbial Antigens  Journal Articles
• Artificial intelligence and heart failure: A state‐of‐the‐art review  Journal Articles
• Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.  Journal Articles
• Association Between a Literature-Based Genetic Risk Score and Cardiovascular Events in Women  Journal Articles
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Journal Articles
• Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation  Journal Articles
• Association between HLA Class I and Class II Alleles and the Outcome of West Nile Virus Infection: An Exploratory Study  Journal Articles
• Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample  Journal Articles
• Association of DRD4 with attention problems in normal childhood development  Journal Articles
• Association of Diabetes With Atrial Fibrillation Phenotype and Cardiac and Neurological Comorbidities: Insights From the Swiss‐AF Study  Journal Articles
• Association of heart rate and diabetes among 0.5 million adults in the China Kadoorie biobank: Results from observational and Mendelian randomization analyses  Journal Articles
• Association of renal failure with lewis incompatibility after allogeneic bone marrow transplantation  Journal Articles
• Atherothrombosis and Thromboembolism: Position Paper from the Second Maastricht Consensus Conference on Thrombosis  Journal Articles
• BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays  Journal Articles
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Journal Articles
• Bayesian methods for meta‐analysis of causal relationships estimated using genetic instrumental variables  Journal Articles
• Behavioral Phenotyping of Murine Disease Models with the Integrated Behavioral Station (INBEST)  Journal Articles
• Benefits and limitations of genome-wide association studies  Journal Articles
• Betaine aldehyde dehydrogenase polymorphism in spinach: Genetic and biochemical characterization  Journal Articles
• Beyond the Brain  Journal Articles
• Biallelic SCN1A variants with divergent epilepsy phenotypes.  Journal Articles
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Journal Articles
• Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype  Journal Articles
• Bioinformatics of antimicrobial resistance in the age of molecular epidemiology  Journal Articles
• Biological, clinical and population relevance of 95 loci for blood lipids  Journal Articles
• Birth cohorts in asthma and allergic diseases: Report of a NIAID/NHLBI/MeDALL joint workshop  Journal Articles
• BldD fromStreptomyces coelicoloris a non-essential global regulator that binds its own promoter as a dimer  Journal Articles
• Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case  Journal Articles
• Bovine serum transferrin phenotypes AA, D1D1, D2D2, EE: Their carbohydrate compositions and electrophoretic multiplicity  Journal Articles
• Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder  Journal Articles
• Brief Report: Cross-Cultural Evidence for the Heterogeneity of the Restricted, Repetitive Behaviours and Interests Domain of Autism: A Greek Study  Journal Articles
• Brief Report: Relationship Between Non-verbal IQ and Gender in Autism  Journal Articles
• CADM2 is implicated in impulsive personality and numerous other traits by genome- and phenome-wide association studies in humans and mice  Journal Articles
• CARD15 and IL23R influences Crohnʼs disease susceptibility but not disease phenotype in a Brazilian population  Journal Articles
• CFTR2: How will it help care?  Journal Articles
• CHIP Deficiency Decreases Longevity, with Accelerated Aging Phenotypes Accompanied by Altered Protein Quality Control  Journal Articles
• 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  Journal Articles
• COPD profiles and treatable traits using minimal resources: identification, decision tree and stability over time  Journal Articles
• Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination  Journal Articles
• Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories  Journal Articles
• Cancer phenomics: RET and PTEN as illustrative models  Journal Articles
• Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims  Journal Articles
• Cardiac Atrophy, Dysfunction, and Metabolic Impairments  Journal Articles
• Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease  Journal Articles
• Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis  Journal Articles
• Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis  Journal Articles
• Cellular and Molecular Regulation of Skeletal Muscle Side Population Cells  Journal Articles
• Cerebral amyloid angiopathy with and without hemorrhage  Journal Articles
• Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study  Journal Articles
• Changes in rat and human pepsinogen phenotypes induced by N′-methyl-N′nitro-n-nitrosoguanidine  Journal Articles
• Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease  Journal Articles
• Changing Paradigms in the Treatment of Severe Asthma: The Role of Biologic Therapies  Journal Articles
• Characteristics and determinants of T‐cell phenotype normalization in HIV‐1‐infected individuals receiving long‐term antiretroviral therapy  Journal Articles
• Characterization of Human TK- Cell Lines Transformed to a TK+ Phenotype by Herpes Simplex Virus Type 2 DNA  Journal Articles
• Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C  Journal Articles
• Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype  Journal Articles
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1  Journal Articles
• Characterization of human embryonic stem cells with features of neoplastic progression  Journal Articles
• Characterization of long RNA-cleaving deoxyribozymes with short catalytic cores: the effect of excess sequence elements on the outcome of in vitro selection  Journal Articles
• Characterization ofStreptococcus milleriGroup Isolates from Expectorated Sputum of Adult Patients with Cystic Fibrosis  Journal Articles
• Characterizing Cluster-Based Frailty Phenotypes in a Multicenter Prospective Cohort of Kidney Transplant Candidates  Journal Articles
• Characterizing the ASD–ADHD phenotype: measurement structure and invariance in a clinical sample  Journal Articles
• Cheats never prosper  Journal Articles
• Chemotherapeutic agents doxorubicin and epirubicin induce a procoagulant phenotype on endothelial cells and blood monocytes  Conferences
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Journal Articles
• Cholinergic expression by a neural stem cell line grafted to the adult medial septum/diagonal band complex  Journal Articles
• Cholinesterase Phenotyping: Clinical Aspects and Laboratory Applications  Journal Articles
• Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein  Journal Articles
• Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency  Journal Articles
• Circulating TNF and mitochondrial DNA are major determinants of neutrophil phenotype in the advanced-age, frail elderly  Journal Articles
• Classification of Visual Cortex Plasticity Phenotypes following Treatment for Amblyopia  Journal Articles
• Classification of osteoarthritis phenotypes by metabolomics analysis  Journal Articles
• Classifying acute leukemia by immunophenotyping: a combined FAB- immunologic classification of AML  Journal Articles
• Claudin-Low Breast Cancer; Clinical & Pathological Characteristics  Journal Articles
• Clinical and Genetic Analysis of Unclassifiable Inherited Bone Marrow Failure Syndromes  Journal Articles
• Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel  Journal Articles
• Clinical features of facioscapulohumeral muscular dystrophy 2  Journal Articles
• Clinical phenotypes of three children with sickle cell disease caused by HbS/Sicilian (δβ)⁰‐thalassemia deletion  Journal Articles
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Journal Articles
• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12  Journal Articles
• Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study  Journal Articles
• Clinical, biochemical and genetic features of five extended kindred's with glucocorticoid-suppressible hyperaldosteronism.  Conferences
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency  Journal Articles
• Clonal Expansion of the Pseudogymnoascus destructans Genotype in North America Is Accompanied by Significant Variation in Phenotypic Expression  Journal Articles
• Clonal tracking of hESCs reveals differential contribution to functional assays  Journal Articles
• Cluster Analysis to Explore Clinical Subphenotypes of Eosinophilic Granulomatosis With Polyangiitis  Conferences
• Co-factors, Microbes, and Immunogenetics in Celiac Disease to Guide Novel Approaches for Diagnosis and Treatment  Journal Articles
• Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival  Journal Articles
• Cofilin Nuclear-Cytoplasmic Shuttling Affects Cofilin-Actin Rod Formation During Stress  Journal Articles
• Common DISC1 Polymorphisms Disrupt Wnt/GSK3β Signaling and Brain Development  Journal Articles
• Common polymorphisms of cyclooxygenase-2 and prostaglandin E2 receptor and increased risk for acute coronary syndrome in coronary artery disease  Journal Articles
• Commonalities in the Features of Cancer and Chronic Fatigue Syndrome (CFS): Evidence for Stress-Induced Phenotype Instability?  Journal Articles
• Comparative Genetics of the rdar Morphotype inSalmonella  Journal Articles
• Comparative analysis of function and interaction of transcription factors in nematodes: Extensive conservation of orthology coupled to rapid sequence evolution  Journal Articles
• Comparison of Standardization Methods for the Harmonization of Phenotype Data: An Application to Cognitive Measures  Journal Articles
• Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons  Journal Articles
• Complex Pseudomonas Population Structure in Cystic Fibrosis Airway Infections  Journal Articles
• Complexities of recapitulating polygenic effects in natural populations: replication of genetic effects on wing shape in artificially selected and wild-caught populations of Drosophila melanogaster  Journal Articles
• Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma  Journal Articles
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Journal Articles
• Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements  Journal Articles
• Condition dependence and the nature of genetic variation for male sex comb bristle number in Drosophila melanogaster  Journal Articles
• Conditional Deletion of AP-2β in the Periocular Mesenchyme of Mice Alters Corneal Epithelial Cell Fate and Stratification  Journal Articles
• Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the  -subunit of cone specific transducin (GNAT2)  Journal Articles
• Conservation of Lotus and Arabidopsis Basic Helix-Loop-Helix Proteins Reveals New Players in Root Hair Development      Journal Articles
• Consider If You Will: Proton Pump Inhibitors in Children, Infections, and Precision Medicine  Journal Articles
• Consistent changes in muscle phenotype and mitochondrial abundance underlie dive performance across multiple lineages of diving ducks  Journal Articles
• Contraception: Endometrial lymphomyeloid cells in abnormal uterine bleeding due to levonorgestrel (Norplant)  Journal Articles
• Contribution of Large Region Joint Associations to Complex Traits Genetics  Journal Articles
• Copy number variation in metabolic phenotypes  Journal Articles
• Cortical Serotonin Type-2 Receptor Density in Parents of Children with Autism Spectrum Disorders  Journal Articles
• Crohn’s Disease Phenotypes and Associations With Comorbidities, Surgery Risk, Medications and Nonmedication Approaches: The MAGIC in IMAGINE Study  Journal Articles
• Cryptic Genetic Variation in Natural Populations: A Predictive Framework  Journal Articles
• Cutting Edge Issues in the Churg–Strauss Syndrome  Journal Articles
• Cytokine responses of peripheral blood mononuclear cells to allergen do not identify asthma or asthma phenotypes  Journal Articles
• DHCR7 and Smith-Lemli-Opitz syndrome.  Journal Articles
• DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome  Journal Articles
• DNA methyltransferase 3a mediates developmental thermal plasticity  Journal Articles
• DNA-mediated transfer of herpes simplex virus TK gene to human TK- cells: properties of the transformed lines.  Journal Articles
• DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients  Journal Articles
• Data-driven cognitive phenotypes in subjects with bipolar disorder and their clinical markers of severity  Journal Articles
• De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy  Journal Articles
• De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European  Journal Articles
• De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay  Journal Articles
• Decoding ‘Unnecessary Complexity’: A Law of Complexity and a Concept of Hidden Variation Behind “Missing Heritability” in Precision Medicine  Journal Articles
• Decomposing the autism phenotype into familial dimensions  Journal Articles
• Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome  Journal Articles
• Defining Aging Phenotypes and Related Outcomes: Clues to Recognize Frailty in Hospitalized Older Patients  Journal Articles
• Defining the clinical phenotype of Saul–Wilson syndrome  Journal Articles
• Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Journal Articles
• 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  Journal Articles
• Delayed prezygotic isolating mechanisms: evolution with a twist  Journal Articles
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Journal Articles
• Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?  Journal Articles
• Deletion of Myeloid GSK3α Attenuates Atherosclerosis and Promotes an M2 Macrophage Phenotype  Journal Articles
• Demystifying phenotypes: The comparative genomics of evo-devo  Journal Articles
• Dendritic Cells Derived from Murine Colonic Mucosa Have Unique Functional and Phenotypic Characteristics  Journal Articles
• 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  Journal Articles
• Development of Retinoblastoma in the Absence of Telomerase Activity  Journal Articles
• Development of a low-cost, user-customizable, high-speed camera  Journal Articles
• Developmental Systems Drift and the Drivers of Sex Chromosome Evolution  Journal Articles
• Developmental delay in shivering limits thermogenic capacity in juvenile high-altitude deer mice (Peromyscus maniculatus)  Journal Articles
• Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant  Journal Articles
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Journal Articles
• Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.  Journal Articles
• Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH  Journal Articles
• Diagnosis of ‘possible’ mitochondrial disease: an existential crisis  Journal Articles
• Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions  Journal Articles
• Dietary nitrate restores compensatory vasodilation and exercise capacity in response to a compromise in oxygen delivery in the noncompensator phenotype  Journal Articles
• Differences between Syrian Hamster Strains in Natural Killer Cell Activity Induced by Infection with Pichinde Virus  Journal Articles
• Differences in lymphocyte responsiveness to lymphokines in two inbred strains of Syrian hamster.  Journal Articles
• Different hotspot p53 mutants exert distinct phenotypes and predict outcome of colorectal cancer patients  Journal Articles
• Differentiation of Human Basophils and Mast Cells  Journal Articles
• Diphtheria toxin resistance in chinese hamster cells: Genetic and biochemical characteristics of the mutants affected in protein synthesis  Journal Articles
• Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype  Journal Articles
• Disconnect between sputum neutrophils and other measures of airway inflammation in asthma  Journal Articles
• Discordance analysis of Apolipoprotein B and non-high density lipoprotein cholesterol as markers of cardiovascular risk in the INTERHEART study  Journal Articles
• Discovering cooperative traits in crop plants  Journal Articles
• Disintegrating the fly: A mutational perspective on phenotypic integration and covariation  Journal Articles
• Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes  Journal Articles
• Distinct Mechanisms of Action of theLozengeLocus inDrosophilaEye and Antennal Development are Suggested by the Analysis of Dominant Enhancers  Journal Articles
• Distinct Phenotype Clusters in Childhood Inflammatory Brain Diseases: Implications for Diagnostic Evaluation  Journal Articles
• Distinct Phenotypic Adhesion Molecule Expression on Human Cord Blood Progenitors During Early Eosinophilic Commitment: Upregulation of β₇ Integrins  Journal Articles
• Distribution and Characteristics of Listeria monocytogenes Isolates from Surface Waters of the South Nation River Watershed, Ontario, Canada  Journal Articles
• Distribution and prevalence of leukocyte phenotypes in brains of lupus-prone mice  Journal Articles
• Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening  Journal Articles
• Diverse Evolutionary Trajectories Characterize a Community of RNA-Cleaving Deoxyribozymes: A Case Study into the Population Dynamics of In Vitro Selection  Journal Articles
• Diverse hematological phenotypes of β‐thalassemia carriers  Journal Articles
• Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?  Journal Articles
• Do mice bred selectively for high locomotor activity have a greater reliance on lipids to power submaximal aerobic exercise?  Journal Articles
• Does Integration of Various Ion Channel Measurements Improve Diagnostic Performance in Cystic Fibrosis?  Journal Articles
• Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?  Journal Articles
• Does the clinical presentation and extent of venous thrombosis predict likelihood and type of recurrence? A patient‐level meta‐analysis  Journal Articles
• Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution  Journal Articles
• Draft genome of the red harvester ant Pogonomyrmex barbatus  Journal Articles
• Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases  Journal Articles
• Dual decline in gait speed and cognition is associated with future dementia: evidence for a phenotype  Journal Articles
• Dual molecular diagnoses in a neurometabolic specialty clinic  Journal Articles
• Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44  Journal Articles
• Dysferlin aggregation in limb‐girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis  Journal Articles
• EAACI Biologicals Guidelines—Recommendations for severe asthma  Journal Articles
• EXPERIMENTAL EVOLUTION OF THE CAENORHABDITIS ELEGANS SEX DETERMINATION PATHWAY  Journal Articles
• Early Life Exposure to Fructose and Offspring Phenotype: Implications for Long Term Metabolic Homeostasis  Journal Articles
• Early and lethal neurodegeneration with myasthenic and myopathic features  Journal Articles
• Early infancy microbial and metabolic alterations affect risk of childhood asthma  Journal Articles
• Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype  Journal Articles
• Effect of chronic contractile activity on mRNA stability in skeletal muscle  Journal Articles
• Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A  Journal Articles
• Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants  Journal Articles
• Effects of Maternal Dexamethasone Treatment Early in Pregnancy on Glucocorticoid Receptors in the Ovine Placenta  Journal Articles
• Effects of a Short Course of Inhaled Corticosteroids in Noneosinophilic Asthmatic Subjects  Journal Articles
• Effects of lifelong testosterone exposure on health and disease using Mendelian randomization  Journal Articles
• Effects of misclassification on estimates of relative risk in family history studies  Journal Articles
• Effects of rearing environment on adrenal weights, sexual development, and behavior in gerbils: An examination of Richter's domestication hypothesis.  Journal Articles
• Elbow and Noc define a family of zinc finger proteins controlling morphogenesis of specific tracheal branches  Journal Articles
• Electrocution-induced Brugada phenocopy  Journal Articles
• Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies  Conferences
• Embryonic and Neonatal Phenotyping of Genetically Engineered Mice  Journal Articles
• Embryonic critical windows: changes in incubation temperature alter survival, hatchling phenotype, and cost of development in lake whitefish (Coregonus clupeaformis)  Journal Articles
• Endothelial cell tumors develop in transgenic mice carrying polyoma virus middle T oncogene  Journal Articles
• Environmental influence on development, behavior, and endocrine morphology of gerbils  Journal Articles
• Environmental variation impacts trait expression and selection in the legume–rhizobium symbiosis  Journal Articles
• Eosinophilic Asthma  Journal Articles
• Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy  Journal Articles
• Epidermal hyperplasia and expansion of the interfollicular stem cell compartment in mutant mice with a C-terminal truncation of Patched1  Journal Articles
• Epigenomic alterations define lethal CIMP-positive ependymomas of infancy  Journal Articles
• Epilepsy in KBG Syndrome: Report of Additional Cases  Journal Articles
• Epinephrine causes a reduction in lymph node cell output in sheep  Journal Articles
• Epithelial-Restricted Gene Profile of Primary Cultures from Human Prostate Tumors: A Molecular Approach to Predict Clinical Behavior of Prostate Cancer  Journal Articles
• Estimates of Heritabilities and of Genetic and Phenotypic Correlations among Growth and Reproductive Traits in Yearling Angus Bulls1  Journal Articles
• European Respiratory Society Statement on preschool wheezing disorders: updated definitions, knowledge gaps, and proposed future research directions  Journal Articles
• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders  Journal Articles
• 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  Journal Articles
• Evaluation of an automated immunoassay procedure for APO-LDL for phenotyping type II hyperlipoproteinemia  Journal Articles
• Evaluation of the Disease Liability of CFTR Variants  Journal Articles
• Evidence that Herpes Simplex Virus VP16 Is Required for Viral Egress Downstream of the Initial Envelopment Event  Journal Articles
• Evolution of Drosophila sex comb length illustrates the inextricable interplay between selection and variation  Journal Articles
• Evolution of sociability by artificial selection ^*  Journal Articles
• Evolutionary loss of the rdar morphotype in Salmonella as a result of high mutation rates during laboratory passage  Journal Articles
• Evolutionary rates for multivariate traits: the role of selection and genetic variation  Journal Articles
• Evolved changes in phenotype across skeletal muscles in deer mice native to high altitude  Journal Articles
• Exaggerated Trait Growth in Insects  Journal Articles
• Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia  Journal Articles
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Journal Articles
• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Journal Articles
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Journal Articles
• 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  Journal Articles
• 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  Journal Articles
• Exploring different models of pain phenotypes and their association with pain worsening in people with early knee osteoarthritis: The MOST cohort study  Journal Articles
• Exploring sensory phenotypes in autism spectrum disorder  Journal Articles
• Expression of a Mutation Causing Hypertrophic Cardiomyopathy Disrupts Sarcomere Assembly in Adult Feline Cardiac Myocytes  Journal Articles
• Expression of delayed toxicity and lethal mutations in the progeny of human cells surviving exposure to radiation and other environmental mutagens  Conferences
• Expression of the adenovirus E1A oncogene during cell transformation is sufficient to induce susceptibility to lysis by host inflammatory cells.  Journal Articles
• External validation of the FIRST trial’s simplified frailty score in a population-based cohort  Journal Articles
• Extremes of Unexplained Variation as a Phenotype  Journal Articles
• FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects  Journal Articles
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Journal Articles
• Factors independently associated with cardiac troponin I levels in young and healthy adults from the general population  Journal Articles
• Fanconi’s Anemia Effect or Sickle Cell Anemia Effect: That is the Question  Journal Articles
• Fas mutation reduces obesity by increasing IL-4 and IL-10 expression and promoting white adipose tissue browning  Journal Articles
• Fast spin‐echo for multiple mouse magnetic resonance phenotyping  Journal Articles
• Features of acute COVID-19 associated with post-acute sequelae of SARS-CoV-2 phenotypes: results from the IMPACC study  Journal Articles
• Female Choice or Male Sex Drive? The Advantages of Male Body Size during Mating in Drosophila Melanogaster  Journal Articles
• Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans  Journal Articles
• Fetal hemoglobin in sickle cell anemia: a glass half full?  Journal Articles
• Fish Oil Supplementation in Pregnancy Modifies Neonatal Progenitors at Birth in Infants at Risk of Atopy  Journal Articles
• Fitness consequences of plants growing with siblings: reconciling kin selection, niche partitioning and competitive ability  Journal Articles
• Fitness distribution and transgressive segregation across 40 environments in a hybrid progeny population of the human-pathogenic yeastCryptococcus neoformans  Journal Articles
• Flight muscle and heart phenotypes in the high-flying ruddy shelduck  Journal Articles
• Fluctuation domains in adaptive evolution  Journal Articles
• Fluoroquinolone Resistance in Clinical Isolates of Streptococcus pneumoniae : Contributions of Type II Topoisomerase Mutations and Efflux to Levels of Resistance  Journal Articles
• Formation of biofilms under phage predation: considerations concerning a biofilm increase  Journal Articles
• Frailty and Fracture, Disability, and Falls: A Multiple Country Study From the Global Longitudinal Study of Osteoporosis in Women  Journal Articles
• Frailty phenotype as a predictor of bleeding and mortality in ambulatory patients receiving direct oral anticoagulants  Journal Articles
• Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer  Journal Articles
• Functional Enterospheres Derived In Vitro from Human Pluripotent Stem Cells  Journal Articles
• Functional profiling of murine glioma models highlights targetable immune evasion phenotypes.  Journal Articles
• Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462  Journal Articles
• Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients  Journal Articles
• GLI3 Repressor Controls Nephron Number via Regulation of Wnt11 and Ret in Ureteric Tip Cells  Journal Articles
• GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia  Journal Articles
• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling  Journal Articles
• Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene  Journal Articles
• Gene Dispensability in Escherichia coli Grown in Thirty Different Carbon Environments  Journal Articles
• Gene regulatory networks and the role of robustness and stochasticity in the control of gene expression  Journal Articles
• Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci  Journal Articles
• Genetic Analysis of Mutations Affecting pckA Regulation in Rhizobium (Sinorhizobium) meliloti  Journal Articles
• Genetic Control of Vulval Development inCaenorhabditis briggsae  Journal Articles
• Genetic Etiology of Isolated Low HDL Syndrome  Journal Articles
• Genetic Factors and Genotype-Environment Interactions Contribute to Variation in Melanin Production in the Fungal Pathogen Cryptococcus neoformans  Journal Articles
• Genetic Modifiers of Lung Disease in Cystic Fibrosis  Journal Articles
• Genetic Testing in the Evaluation of Unexplained Cardiac Arrest  Journal Articles
• Genetic Variants Associated With Myocardial Infarction Risk Factors in Over 8000 Individuals From Five Ethnic Groups  Journal Articles
• Genetic Variation, Simplicity, and Evolutionary Constraints for Function-Valued Traits  Journal Articles
• Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens.  Journal Articles
• Genetic and Chemical Screening in Human Blood Serum Reveals Unique Antibacterial Targets and Compounds against Klebsiella pneumoniae  Journal Articles
• Genetic and Neurodevelopmental Influences in Autistic Disorder  Journal Articles
• Genetic and biochemical studies with the adenosine analogs toyocamycin and tubercidin: Mutation at the adenosine kinase locus in Chinese hamster cells  Journal Articles
• Genetic and environmental canalization are not associated among altitudinally varying populations of Drosophila melanogaster  Journal Articles
• Genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors (GAPP)  Journal Articles
• Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti  Journal Articles
• Genetic bases of hypertriglyceridemic phenotypes  Journal Articles
• Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair  Journal Articles
• Genetic identification of effectors downstream of Neu (ErbB-2) autophosphorylation sites in a Drosophila model  Journal Articles
• Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene‐based tests, genome‐wide variation, and SNP heritability  Journal Articles
• Genetic, structural and clinical analysis of spastic paraplegia 4  Journal Articles
• Genetically decreased vitamin D and risk of Alzheimer disease  Journal Articles
• Genetically modified dendritic cells prime autoreactive T cells through a pathway independent of CD40L and interleukin 12: implications for cancer vaccines.  Journal Articles
• Genetics of Nitrofurazone Resistance in Escherichia coli  Journal Articles
• Genetics, Morphology, Advertisement Calls, and Historical Records Distinguish Six New Polyploid Species of African Clawed Frog (Xenopus, Pipidae) from West and Central Africa  Journal Articles
• Genome duplication events have led to a diversification in the CPT I gene family in fish  Journal Articles
• Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias  Journal Articles
• Genome-Wide Association Studies across Environmental and Genetic Contexts Reveal Complex Genetic Architecture of Symbiotic Extended Phenotypes  Journal Articles
• Genome-Wide Association Studies of Hypertension: Have They Been Fruitful?  Journal Articles
• Genome-Wide Association Studies—Data Generation, Storage, Interpretation, and Bioinformatics  Journal Articles
• Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes  Journal Articles
• Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2  Journal Articles
• Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder  Journal Articles
• Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets  Journal Articles
• Genome-wide meta-analyses identify multiple loci associated with smoking behavior  Journal Articles
• Genomes within genomes: nested symbiosis and its implications for plant evolution  Journal Articles
• Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders  Journal Articles
• Genome‐wide association study of alcohol use disorder identification test (AUDIT) scores in 20 328 research participants of European ancestry  Journal Articles
• Genomic Loss and Epigenetic Silencing of the FOSL1 Tumor Suppressor Gene in Radiation-induced Neoplastic Transformation of Human CGL1 Cells Alters the Tumorigenic Phenotype In Vitro and In Vivo  Journal Articles
• Genomic approaches to bleeding disorders  Conferences
• Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases  Journal Articles
• Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome  Journal Articles
• Genotype-guided versus standard vitamin K antagonist dosing algorithms in patients initiating anticoagulation  Journal Articles
• Genotypes and immunophenotypes of Hodgkin's disease-derived cell lines.  Journal Articles
• Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project  Journal Articles
• Genotype‐by‐environment interactions for cuticular hydrocarbon expression in Drosophila simulans  Journal Articles
• Geriatric Assessment and Frailty Scores Predict Mortality in Myeloma: Systematic Review and Meta-analysis  Journal Articles
• Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer  Journal Articles
• Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes  Journal Articles
• Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration.  Journal Articles
• Glycoproteins E and I facilitate neuron-to-neuron spread of herpes simplex virus  Journal Articles
• Growth inhibition of prostate cancer xenografts by halofuginone*†  Journal Articles
• Guanosine-induced decrease in side population of lung cancer cells: lack of correlation with ABCG2 expression.  Journal Articles
• Gut commensal microvesicles reproduce parent bacterial signals to host immune and enteric nervous systems  Journal Articles
• HDACi Delivery Reprograms Tumor-Infiltrating Myeloid Cells to Eliminate Antigen-Loss Variants  Journal Articles
• HL-A genotype of patients with acute lymphoblastic leukaemia  Journal Articles
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Journal Articles
• Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an  -thalassemia phenotype  Journal Articles
• Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family  Journal Articles
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Journal Articles
• Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype  Journal Articles
• Helper-dependent adenoviral vectors mediate therapeutic factor VIII expression for several months with minimal accompanying toxicity in a canine model of severe hemophilia A  Journal Articles
• Hemoglobin E/β Thalassemia: The Canadian Experience  Journal Articles
• Hemoglobin E‐β‐Thalassemia: Progress Report from the International Study Group  Conferences
• Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood.  Journal Articles
• Heterogeneity in phenotypic and genotypic characteristics among strains of Hafnia alvei  Journal Articles
• Heterogeneity of serum cholinesterase  Journal Articles
• Heterogeneous Proliferative Characteristics of Human Adult Lung Fibroblast Lines and Clonally Derived Fibroblasts from Control and Fibrotic Tissue  Journal Articles
• Heterologous Complementation Reveals a Specialized Activity for BacA in the Medicago–Sinorhizobium meliloti Symbiosis  Journal Articles
• High phenotypic correlations among siblings with autism and pervasive developmental disorders  Journal Articles
• High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features  Journal Articles
• High-Throughput GoMiner, an 'industrial-strength' integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID)  Journal Articles
• High-altitude ancestry and hypoxia acclimation have distinct effects on exercise capacity and muscle phenotype in deer mice  Journal Articles
• Host genetics maps to behaviour and brain structure in developmental mice.  Journal Articles
• How to Diagnose and Phenotype Asthma  Journal Articles
• How to Use an Article About Genetic Association  Journal Articles
• How well do you know your mutation? Complex effects of genetic background on expressivity, complementation, and ordering of allelic effects  Journal Articles
• Human Adipose Tissue Macrophages Display Activation of Cancer-related Pathways  Journal Articles
• 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  Journal Articles
• Human acute myeloid leukemia stem cells  Journal Articles
• Hundreds of variants clustered in genomic loci and biological pathways affect human height  Journal Articles
• Hybridization in human evolution: Insights from other organisms  Journal Articles
• Hybrids and hybridization in the Cryptococcus neoformans and Cryptococcus gattii species complexes  Journal Articles
• Hypertriglyceridemic Waist Phenotype and Chronic Kidney Disease in a Chinese Population Aged 40 Years and Older  Journal Articles
• Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults  Journal Articles
• Hypoxia inducible factor (HIF)‐2α is required for the development of the catecholaminergic phenotype of sympathoadrenal cells  Journal Articles
• IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE  Journal Articles
• IL-15 has innate anti-tumor activity independent of NK and CD8 T cells  Journal Articles
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Journal Articles
• Identification of Direct p73 Target Genes Combining DNA Microarray and Chromatin Immunoprecipitation Analyses  Journal Articles
• Identification of Genetic Loci Underlying the Phenotypic Constructs of Autism Spectrum Disorders  Journal Articles
• Identification of Novel Causal Blood Biomarkers Linking Metabolically Favorable Adiposity With Type 2 Diabetes Risk  Journal Articles
• Identification of QTLs Associated with Virulence Related Traits and Drug Resistance in Cryptococcus neoformans  Journal Articles
• Identification of a cancer stem cell in human brain tumors.  Journal Articles
• Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism  Journal Articles
• Identification of hemoglobin E by the isopropanol solubility test  Journal Articles
• Identification of older adults with frailty in the Emergency Department using a frailty index: results from a multinational study  Journal Articles
• Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts  Journal Articles
• Identifying pain susceptibility phenotypes in knee osteoarthritis.  Journal Articles
• Immobilization of Intact Phage and Phage-Derived Proteins for Detection and Biocontrol Purposes  Chapters
• Immune Biomarkers Predictive of Respiratory Viral Infection in Elderly Nursing Home Residents  Journal Articles
• Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors  Journal Articles
• Impact of Growth Hormone Supplementation on Adult Height in Turner Syndrome: Results of the Canadian Randomized Controlled Trial  Journal Articles
• Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency—first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository  Journal Articles
• Impact of Treadmill Running and Sex on Hippocampal Neurogenesis in the Mouse Model of Amyotrophic Lateral Sclerosis  Journal Articles
• Impaired Immune Response in Elderly Burn Patients  Journal Articles
• Impaired alternative macrophage differentiation of peripheral blood mononuclear cells from obese subjects  Journal Articles
• Important research questions in allergy and related diseases: nonallergic rhinitis: a GA²LEN paper  Journal Articles
• Impulsivity-based thrifty eating phenotype and the protective role of n-3 PUFAs intake in adolescents  Journal Articles
• In Vivo Generation of Neural Tumors from Neoplastic Pluripotent Stem Cells Models Early Human Pediatric Brain Tumor Formation  Journal Articles
• Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample  Journal Articles
• Inclusive fitness theory and eusociality  Journal Articles
• Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull  Journal Articles
• Individual Cryptic Scaling Relationships and the Evolution of Animal Form  Conferences
• Individual susceptibility to hypoperfusion and reductions in exercise performance when perfusion pressure is reduced: evidence for vasodilator phenotypes  Journal Articles
• Individuality in Bacteria  Journal Articles
• Informative phenotypes for genetic studies of psychiatric disorders  Journal Articles
• Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis  Journal Articles
• Inhibition inversion in the AACC selected method for serum cholinesterase.  Journal Articles
• Innate Immune Cytokines, Fibroblast Phenotypes, and Regulation of Extracellular Matrix in Lung  Journal Articles
• Insights From Invasive Cardiopulmonary Exercise Testing of Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome  Conferences
• Insights into the Development and Evolution of Exaggerated Traits Using De Novo Transcriptomes of Two Species of Horned Scarab Beetles  Journal Articles
• Integrative Physiology: At the Crossroads of Nutrition, Microbiota, Animal Physiology, and Human Health  Journal Articles
• Integrins Regulate Responsiveness to Slit Repellent Signals  Journal Articles
• International ERS/ATS guidelines on definition, evaluation and treatment of severe asthma  Journal Articles
• Intracerebral haemorrhage in previously healthy adults following aerobic and anaerobic exercise  Journal Articles
• Intraepithelial leukocytes contain a unique subpopulation of NK-like cytotoxic cells active in the defense of gut epithelium to enteric murine coronavirus.  Journal Articles
• Intrauterine position effects on sexually dimorphic asymmetries of Mongolian gerbils: Testosterone, eye opening, and paw preference  Journal Articles
• 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 FcγRIIa and FcγRIIIa polymorphisms  Journal Articles
• Intrinsic reproductive isolating mechanisms in the maintenance of a hybrid zone between ecologically divergent subspecies  Journal Articles
• Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach  Journal Articles
• Investigation of the rhythmic recruitment of tear neutrophils to the ocular surface and their phenotypes  Journal Articles
• Invited Commentary: Consolidating Data Harmonization--How to Obtain Quality and Applicability?  Journal Articles
• Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation  Journal Articles
• Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome  Journal Articles
• K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population  Journal Articles
• Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations  Journal Articles
• 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  Journal Articles
• Large meta-analysis of genome-wide association studies identifies five loci for lean body mass  Journal Articles
• Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci  Journal Articles
• Latent transition analysis of pain phenotypes in people at risk of knee osteoarthritis: The MOST cohort study.  Journal Articles
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Journal Articles
• Leaf-level coordination principles propagate to the ecosystem scale  Journal Articles
• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Journal Articles
• Lengthened G1 Phase Indicates Differentiation Status in Human Embryonic Stem Cells  Journal Articles
• Letter to the Editor  Journal Articles
• Life history predicts flight muscle phenotype and function in birds  Journal Articles
• Lifetime selection on a hypoallometric size trait in the spotted hyena  Journal Articles
• Limited plasticity in the phenotypic variance‐covariance matrix for male advertisement calls in the black field cricket,Teleogryllus commodus  Journal Articles
• Longitudinal Data Analysis in Genome‐Wide Association Studies  Journal Articles
• Longitudinal characterization of impulsivity phenotypes boosts signal for genomic correlates and heritability.  Journal Articles
• Loss of Kaiso expression in breast cancer cells prevents intra-vascular invasion in the lung and secondary metastasis  Journal Articles
• Loss-of-Function KCNE2 Variants  Journal Articles
• Lung Function as a Biomarker of Health: An Old Concept Rediscovered  Journal Articles
• Lung clearance index predicts persistence of preschool wheeze  Journal Articles
• Ly6C^hiMonocytes Direct Alternatively Activated Profibrotic Macrophage Regulation of Lung Fibrosis  Journal Articles
• Lys 42/43/44 and Arg 12 of thrombin-activable fibrinolysis inhibitor comprise a thrombomodulin exosite essential for its antifibrinolytic potential  Journal Articles
• M2-polarized and tumor-associated macrophages alter NK cell phenotype and function in a contact-dependent manner  Journal Articles
• MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review  Journal Articles
• Machine learning and big data analytics in bipolar disorder: A position paper from the International Society for Bipolar Disorders Big Data Task Force  Journal Articles
• Machine learning-based immune phenotypes correlate with STK11/KEAP1 co-mutations and prognosis in resectable NSCLC: a sub-study of the TNM-I trial  Journal Articles
• Magnetic resonance imaging for detection and analysis of mouse phenotypes  Journal Articles
• Mammosphere-forming cells from breast cancer cell lines as a tool for the identification of CSC-like- and early progenitor-targeting drugs  Journal Articles
• Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines  Journal Articles
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Journal Articles
• Mast cell heterogeneity: derivation and function, with emphasis on the intestine  Journal Articles
• Maternal High-Fat Diet-Induced Loss of Fetal Oocytes Is Associated with Compromised Follicle Growth in Adult Rat Offspring1  Journal Articles
• Maternal Undernutrition Significantly Impacts Ovarian Follicle Number and Increases Ovarian Oxidative Stress in Adult Rat Offspring  Journal Articles
• Matrix Metalloproteinases are required for membrane motility and lumenogenesis during Drosophila heart development  Journal Articles
• Matrix abnormalities in pulmonary fibrosis  Journal Articles
• Measurement equivalence of the autism symptom phenotype in children and youth  Journal Articles
• Mechanisms and therapeutic strategies for non‐T2 asthma  Journal Articles
• Mechanisms of dyspnoea relief following radiation treatment in a patient with severe COPD  Journal Articles
• Mechanisms of innate immune activation by gluten peptide p31-43 in mice  Journal Articles
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Journal Articles
• Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease  Journal Articles
• Mesectodermal cell fate analysis in Drosophila midline mutants  Journal Articles
• Metabolic modelling reveals the specialization of secondary replicons for niche adaptation in Sinorhizobium meliloti  Journal Articles
• Metformin-induced metabolic reprogramming of chemoresistant ALDHbright breast cancer cells  Journal Articles
• Mice with a Targeted Mutation of Patched2 Are Viable but Develop Alopecia and Epidermal Hyperplasia  Journal Articles
• Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability  Journal Articles
• 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)  Journal Articles
• Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1)  Journal Articles
• 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  Journal Articles
• Modeling the Phenotypic Architecture of Autism Symptoms from Time of Diagnosis to Age 6  Journal Articles
• Modulation of phenotypic and functional maturation of dendritic cells by intestinal bacteria and gliadin: relevance for celiac disease  Journal Articles
• Modulation of the Anchorage-Independent Phenotype of Human Lung Fibroblasts Obtained from Fibrotic Tissue Following Culture with Retinoid and Corticosteroid  Journal Articles
• Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences  Journal Articles
• Molecular Diagnosis of Myopathies  Journal Articles
• Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder  Journal Articles
• Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression  Journal Articles
• Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.  Journal Articles
• Molecular initiating events of the intersex phenotype: Low-dose exposure to 17α-ethinylestradiol rapidly regulates molecular networks associated with gonad differentiation in the adult fathead minnow testis  Journal Articles
• Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation  Journal Articles
• Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects  Journal Articles
• Mothering begets mothering  Journal Articles
• Mouse models of immune dysfunction: their neuroanatomical differences reflect their anxiety-behavioural phenotype  Journal Articles
• Mouse phenogenomics, toolbox for functional annotation of human genome  Journal Articles
• Moving the dial on identifying endotypes of asthma from early life  Journal Articles
• Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis  Journal Articles
• Multidimensional latent structure of risk-related phenotypes in healthy young adults.  Journal Articles
• Multiparameter comparisons of embryoid body differentiation toward human stem cell applications  Journal Articles
• Multivariate analysis of complex gene expression and clinical phenotypes with genetic marker data  Journal Articles
• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Journal Articles
• Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype  Journal Articles
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Journal Articles
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly  Journal Articles
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Journal Articles
• Mutations in the genestand still disrupt germ cell differentiation inDrosophila ovaries  Journal Articles
• Mutations in the genome of porcine reproductive and respiratory syndrome virus responsible for the attenuation phenotype  Journal Articles
• Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants  Journal Articles
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Journal Articles
• Mutual regulation of the Drosophila disconnected (disco) and Distal-less (Dll) genes contributes to proximal-distal patterning of antenna and leg  Journal Articles
• Mycobacteria and human heat shock protein—specific cytotoxic t lymphocytes in rheumatoid synovial inflammation  Journal Articles
• Myeloid dendritic cells type 2 in allergic asthma  Conferences
• Myofibroblast Markers and Microscopy Detection Methods in Cell Culture and Histology  Chapters
• Myostatin promotes a fibrotic phenotypic switch in multipotent C3H 10T1/2 cells without affecting their differentiation into myofibroblasts  Journal Articles
• NADP+ -dependent malic enzyme of Rhizobium meliloti  Journal Articles
• NAT2 genetic polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in Chinese community population  Journal Articles
• NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as intermediate phenotypes for nicotine dependence  Journal Articles
• NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases  Journal Articles
• Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons  Journal Articles
• Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome  Journal Articles
• Nature, nurture or nutrition? Impact of maternal nutrition on maternal care, offspring development and reproductive function  Journal Articles
• Negative regulation of sigma 54-dependent dctA expression by the transcriptional activator DctD  Journal Articles
• Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in culture  Journal Articles
• Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact  Journal Articles
• Neuronal loss and β-amyloid removal in the amygdala of people with Down syndrome☆  Journal Articles
• New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome  Journal Articles
• New interventions in asthma including bronchial thermoplasty  Journal Articles
• New treatment paradigms for ADPKD: moving towards precision medicine  Journal Articles
• Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia  Journal Articles
• Non-canonical Wnt signals are modulated by the Kaiso transcriptional repressor and p120-catenin  Journal Articles
• Novel Drug Targets for Ischemic Stroke Identified Through Mendelian Randomization Analysis of the Blood Proteome  Journal Articles
• Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease  Journal Articles
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Journal Articles
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Journal Articles
• Novel epilepsy phenotype associated with a pathogenic GABRG2 variant.  Journal Articles
• Novel mutants of CHO cells resistant to adenosine analogs and containing biochemically altered form of adenosine kinase in cell extracts  Journal Articles
• Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)  Journal Articles
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Journal Articles
• Obsessive‐compulsive disorder in children and youth: neurocognitive function in clinic and community samples  Journal Articles
• On inferring evolutionary stability in finite populations using infinite population models  Journal Articles
• On the Accessibility of Adaptive Phenotypes of a Bacterial Metabolic Network  Journal Articles
• Oncostatin M overexpression induces skin inflammation but is not required in the mouse model of imiquimod‐induced psoriasis‐like inflammation  Journal Articles
• Open-Source High-Throughput Phenomics of Bacterial Promoter-Reporter Strains  Journal Articles
• Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma  Journal Articles
• Origins and evolution of biological novelty  Journal Articles
• 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  Journal Articles
• Overexpression of OSM and IL-6 impacts the polarization of pro-fibrotic macrophages and the development of bleomycin-induced lung fibrosis  Journal Articles
• Overexpression of the dctA gene in Rhizobium meliloti: effect on transport of C₄ dicarboxylates and symbiotic nitrogen fixation  Conferences
• Oxidative stress and antioxidant enzyme upregulation in SOD1‐G93A mouse skeletal muscle  Journal Articles
• Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders  Journal Articles
• PDZK1 in leukocytes protects against cellular apoptosis and necrotic core development in atherosclerotic plaques in high fat diet fed ldl receptor deficient mice  Journal Articles
• PSA affects prostate cancer cell invasion in vitro and induces an osteoblastic phenotype in bone in vivo  Journal Articles
• Pain Susceptibility Phenotypes in Those Free of Knee Pain With or at Risk of Knee Osteoarthritis: The Multicenter Osteoarthritis Study  Journal Articles
• Palmitate differentially regulates the polarization of differentiating and differentiated macrophages  Journal Articles
• Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene  Journal Articles
• Parasitic Manipulation of Hosts' Phenotype, or How to Make a Zombie--An Introduction to the Symposium  Journal Articles
• Parental and child genetic contributions to obesity traits in early life based on 83 loci validated in adults: the FAMILY study  Journal Articles
• Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling  Journal Articles
• Partial monosomy 1q43 and partial trisomy 20q13.2: a case report  Journal Articles
• Pathbase: a database of mutant mouse pathology  Journal Articles
• Pathbase: a new reference resource and database for laboratory mouse pathology  Journal Articles
• Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome  Journal Articles
• Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies  Journal Articles
• Pathways to eating in children and adolescents with obesity  Journal Articles
• Patterning an Epidermal Field:DrosophilaLozenge, a Member of the AML-1/Runt Family of Transcription Factors, Specifies Olfactory Sense Organ Type in a Dose-Dependent Manner  Journal Articles
• Performance of compulsive behavior in rats is not a unitary phenomenon – validation of separate functional components in compulsive checking behavior  Journal Articles
• Perinatal Administration of a Selective Serotonin Reuptake Inhibitor Induces Impairments in Reproductive Function and Follicular Dynamics in Female Rat Offspring  Journal Articles
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Journal Articles
• Personality traits share overlapping neuroanatomical correlates with internalizing and externalizing psychopathology.  Journal Articles
• Pharmacogenetics in Cardiovascular Disease: The Challenge of Moving From Promise to Realization  Journal Articles
• PhenCode: connecting ENCODE data with mutations and phenotype  Journal Articles
• Phenomics: expanding the role of clinical evaluation in genomic studies.  Journal Articles
• Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)  Journal Articles
• Phenotype consensus is required to enable large‐scale genetic consortium studies of food allergy  Journal Articles
• Phenotypes of sleep-disordered breathing symptoms to two years of age based on age of onset and duration of symptoms  Journal Articles
• Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers  Journal Articles
• Phenotypic Classification of Preterm Birth Among Nulliparous Women: A Population-Based Cohort Study  Journal Articles
• Phenotypic Classification of preterm Birth Among Multiparous Women: A Population-Based Cohort Study  Journal Articles
• Phenotypic Divergence along Geographic Gradients Reveals Potential for Rapid Adaptation of the White-Nose Syndrome Pathogen, Pseudogymnoascus destructans, in North America  Journal Articles
• Phenotypic Heterogeneity of Pseudomonas aeruginosa Populations in a Cystic Fibrosis Patient  Journal Articles
• Phenotypic Overlap Between Core Diagnostic Features and Emotional/Behavioral Problems in Preschool Children with Autism Spectrum Disorder  Journal Articles
• Phenotypic characterization of human bone marrow granulocyte-macrophage forming progenitor cells  Journal Articles
• Phenotypic differences in cholinergic responses of distal colonic epithelium  Journal Articles
• Phenotypic diversity and ecosystem functioning in changing environments: A theoretical framework  Journal Articles
• Phenotypic plasticity and genetic adaptation to high-altitude hypoxia in vertebrates  Journal Articles
• Phenotypic plasticity in response to dietary salt stress: Na+ and K+ transport by the gut ofDrosophila melanogasterlarvae  Journal Articles
• Phenotypic plasticity, genetic assimilation, and genetic compensation in hypoxia adaptation of high-altitude vertebrates  Journal Articles
• Phenotypic selection on leaf ecophysiological traits in Helianthus  Journal Articles
• Phenotypic selection on leaf water use efficiency and related ecophysiological traits for natural populations of desert sunflowers  Journal Articles
• Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder  Journal Articles
• Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder  Journal Articles
• Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.  Journal Articles
• Phenotypic variability of CMT4C in a French‐Canadian kindred  Journal Articles
• Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype  Journal Articles
• Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.  Journal Articles
• Physiologic Characterization of the Chronic Bronchitis Phenotype in GOLD Grade IB COPD  Conferences
• Physiological insight into the evolution of complex phenotypes: aerobic performance and the O2 transport pathway of vertebrates  Journal Articles
• Plasma endothelin-1 and cardiovascular risk among young and healthy adults  Journal Articles
• Plasma levels of elastase-specific fibrinopeptides correlate with proteinase inhibitor phenotype. Evidence for increased elastase activity in subjects with homozygous and heterozygous deficiency of alpha 1-proteinase inhibitor.  Journal Articles
• Platelet derived growth factor B and epithelial mesenchymal transition of peritoneal mesothelial cells  Journal Articles
• Pleiotropic mutations in Saccharomyces cerevisiae affecting sterol uptake and metabolism  Journal Articles
• Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study  Journal Articles
• Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia  Journal Articles
• Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders  Journal Articles
• Polymorphism and selection of rpoS in pathogenic Escherichia coli  Journal Articles
• Population Genetics Without Intraspecific Data  Journal Articles
• Population genetics of chronic kidney disease: The evolving story of APOL1  Journal Articles
• Population-Based Study to Determine the Health System Costs of Using the 21-Gene Assay  Journal Articles
• Potential of nintedanib in treatment of progressive fibrosing interstitial lung diseases  Journal Articles
• Predation in Homogeneous and Heterogeneous Phage Environments Affects Virulence Determinants of Pseudomonas aeruginosa  Journal Articles
• Predictive power of individual genetic and environmental factor scores  Journal Articles
• Pregnancy and Birth Complications in Autism and Liability to the Broader Autism Phenotype  Journal Articles
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Journal Articles
• Prevalence and outcomes of heart failure phenotypes in patients with atrial fibrillation  Journal Articles
• Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene  Journal Articles
• Primary Immune Deficiencies in the Adult: A Previously Underrecognized Common Condition  Journal Articles
• Prognostic factors and outcomes of infant acute lymphoblastic leukemia (ALL), hypodiploid ALL, and mixed-phenotype acute leukemia (MPAL) in Canada: a report from CYP-C  Journal Articles
• Prognostic factors and outcomes of infant acute lymphoblastic leukemia (ALL), hypodiploid ALL, and mixed-phenotype acute leukemia (MPAL) in Canada: a report from CYP-C.  Conferences
• Prognostic importance of glomeruloid microvascular proliferation indicates an aggressive angiogenic phenotype in human cancers.  Journal Articles
• Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes  Journal Articles
• Progressive fibrosing interstitial lung disease: treatable traits and therapeutic strategies  Journal Articles
• Proline auxotrophy in Sinorhizobium meliloti results in a plant-specific symbiotic phenotype  Journal Articles
• Prolongation of Brainstem Auditory-Evoked Responses in Autistic Probands and Their Unaffected Relatives  Journal Articles
• Protein arginine methyltransferase expression, localization, and activity during disuse-induced skeletal muscle plasticity  Journal Articles
• Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB  Journal Articles
• Pulmonary infection by SARS-CoV-2 induces senescence accompanied by an inflammatory phenotype in severe COVID-19: possible implications for viral mutagenesis  Journal Articles
• Quantitative genetics of larval life-history traits in Rana temporaria in different environmental conditions  Journal Articles
• RETRACTED ARTICLE:Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice  Journal Articles
• RNA-Seq effectively monitors gene expression in Eutrema salsugineum plants growing in an extreme natural habitat and in controlled growth cabinet conditions  Journal Articles
• ROLE OF THE NEURAL TUBE IN THE PATHOGENESIS OF HEREDITARY MUSCULAR DYSTROPHY IN THE CHICKEN: STUDIES WITH TRANSPLANTATION CHIMERAS *  Journal Articles
• Radiation-induced bystander effects and the DNA paradigm: An “out of field” perspective  Journal Articles
• Rearrangement of TCR gamma chain gene involving JP1 suggests early thymocyte origin of peripheral T‐cell lymphoma  Journal Articles
• Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities  Journal Articles
• Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in AdolescentShank3Null Mutant Mice  Journal Articles
• Regional brain volumes changes in adult male FMR1-KO mouse on the FVB strain  Journal Articles
• Regulation of Phosphate Assimilation in Rhizobium (Sinorhizobium) meliloti  Journal Articles
• Relationship between obesity severity, metabolic status and cardiovascular disease in obese adults  Journal Articles
• Relevance of Birth Cohorts to Assessment of Asthma Persistence  Journal Articles
• Repair phenotype in corneal fibroblasts is controlled by an interleukin-1 alpha autocrine feedback loop.  Journal Articles
• Repellent Signaling by Slit Requires the Leucine-Rich Repeats  Journal Articles
• Replication of an Egfr-Wing Shape Association in a Wild-Caught Cohort of Drosophila melanogaster  Journal Articles
• Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction  Journal Articles
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Journal Articles
• Resistance Exercise–induced Changes in Muscle Phenotype Are Load Dependent  Journal Articles
• Resveratrol induces expression of the slow, oxidative phenotype in mdx mouse muscle together with enhanced activity of the SIRT1-PGC-1α axis  Journal Articles
• Retrospective analysis of Canadian adults with tuberous sclerosis complex  Journal Articles
• Reverse translation of major depressive disorder symptoms: A framework for the behavioural phenotyping of putative biomarkers  Journal Articles
• Review of aspirin and clopidogrel resistance in peripheral arterial disease  Journal Articles
• Revisiting the evolutionary origins of obesity: lazy versus peppy‐thrifty genotype hypothesis  Journal Articles
• RhD status of a fetus at risk for haemolytic disease with a discrepant maternal DNA-based RhD genotype  Journal Articles
• Robustness of the BMP morphogen gradient in Drosophila embryonic patterning  Journal Articles
• Role of genetics in the prediction of statin-associated muscle symptoms and optimization of statin use and adherence  Journal Articles
• Role of transient receptor potential canonical 6 (TRPC6) in non-transferrin-bound iron uptake in neuronal phenotype PC12 cells  Journal Articles
• SASP mediates chemoresistance and tumor-initiating-activity of mesothelioma cells  Journal Articles
• SOX2 Functions to Maintain Neural Progenitor Identity  Journal Articles
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females  Journal Articles
• Salt stress alters fluid and ion transport by Malpighian tubules ofDrosophila melanogaster: evidence for phenotypic plasticity  Journal Articles
• SapB and the chaplins: connections between morphogenetic proteins in Streptomyces coelicolor  Journal Articles
• Season of Birth and Dopamine Receptor Gene Associations with Impulsivity, Sensation Seeking and Reproductive Behaviors  Journal Articles
• Second site mutations specifically suppress the Fix- phenotype of Rhizobium meliloti ndvF mutations on alfalfa: identification of a conditional ndvF-dependent mucoid colony phenotype.  Journal Articles
• Second symbiotic megaplasmid in Rhizobium meliloti carrying exopolysaccharide and thiamine synthesis genes  Journal Articles
• Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees  Journal Articles
• Senescent myoblasts exhibit an altered exometabolome that is linked to senescence-associated secretory phenotype signaling.  Journal Articles
• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Journal Articles
• Sentinel Symptoms in Patients with Unexplained Cardiac Arrest: From the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER)  Journal Articles
• Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.  Journal Articles
• Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C  Journal Articles
• Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15  Journal Articles
• Sex Differences in Children with Autism Spectrum Disorder Identified Within a High-Risk Infant Cohort  Journal Articles
• Sex differences in skeletal muscle Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) levels: A cross-sectional study  Journal Articles
• Sexual Selection Does Not Increase the Rate of Compensatory Adaptation to a Mutation Influencing a Secondary Sexual Trait inDrosophila melanogaster  Journal Articles
• Sexual dimorphism in the glucose homeostasis phenotype of the Aromatase Knockout (ArKO) mice  Journal Articles
• Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies  Journal Articles
• Short-coupled ventricular fibrillation represents a distinct phenotype among latent causes of unexplained cardiac arrest: a report from the CASPER registry  Journal Articles
• Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab‐Indian haplotype is not benign  Journal Articles
• Sickle cell disease: no longer a single gene disorder  Journal Articles
• Silencing cryptic specialized metabolism in Streptomyces by the nucleoid-associated protein Lsr2  Journal Articles
• Silencing of OsGRXS17 in rice improves drought stress tolerance by modulating ROS accumulation and stomatal closure  Journal Articles
• Simultaneous or sequential expression of lymphoid and myeloid phenotypes in acute leukemia  Journal Articles
• Single-Residue Changes in the C-Terminal Disulfide-Bonded Loop of thePseudomonas aeruginosaType IV Pilin Influence Pilus Assembly and Twitching Motility  Journal Articles
• Site-directed mutagenesis and DNA sequence of pckA of Rhizobium NGR234, encoding phosphoenolpyruvate carboxykinase: gluconeogenesis and host-dependent symbiotic phenotype  Journal Articles
• Sleep and circadian disruption in bipolar disorders: From psychopathology to digital phenotyping in clinical practice.  Journal Articles
• Small rodent models of atherosclerosis  Journal Articles
• Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings  Journal Articles
• Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype  Journal Articles
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Journal Articles
• Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype  Journal Articles
• Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology  Journal Articles
• SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts  Journal Articles
• Spatial heterogeneity in resources alters selective dynamics in Drosophila melanogaster  Journal Articles
• Spatial mapping of mitochondrial networks and bioenergetics in lung cancer  Journal Articles
• Spatial-specific TGF-β1 adenoviral expression determines morphogenetic phenotypes in embryonic mouse lung  Journal Articles
• Sputum T lymphocytes in asthma, COPD and healthy subjects have the phenotype of activated intraepithelial T cells (CD69+ CD103+)  Journal Articles
• Staging of idiopathic pulmonary fibrosis: past, present and future  Journal Articles
• Statistical genetics with application to population-based study design: a primer for clinicians  Journal Articles
• Steep Discounting of Future Rewards as an Impulsivity Phenotype: A Concise Review  Journal Articles
• Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis  Journal Articles
• Stimulation of calcineurin Aα activity attenuates muscle pathophysiology inmdxdystrophic mice  Journal Articles
• Streptococcal‐induced Kawasaki disease of the psoriasiform phenotype in a young adult  Journal Articles
• Stromal β-catenin overexpression contributes to the pathogenesis of renal dysplasia  Journal Articles
• Structural Variation of Chromosomes in Autism Spectrum Disorder  Journal Articles
• Structure of the Autism Symptom Phenotype  Journal Articles
• Structure-Function Analyses of Thrombomodulin by Gene-Targeting in Mice: The Cytoplasmic Domain Is Not Required for Normal Fetal Development  Journal Articles
• Studies in haemoglobin E beta‐thalassaemia  Journal Articles
• Study of alleles of the second complement component (C2) on Canadian HLA haplotypes  Journal Articles
• Subjective Responses to Alcohol Consumption as Endophenotypes: Advancing Behavioral Genetics in Etiological and Treatment Models of Alcoholism  Journal Articles
• Succinylcholine sensitivity in a nova scotia family  Journal Articles
• Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion  Journal Articles
• Surface Phenotype and Functionality of WNV Specific T Cells Differ with Age and Disease Severity  Journal Articles
• Survival, mutagenesis, and host cell reactivation in a Chinese hamster ovary cell ERCC1 knock-out mutant  Journal Articles
• Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2  Journal Articles
• Synergistic Engineering: Organoids Meet Organs-on-a-Chip  Journal Articles
• Synergy in Induction of Increased Renal Allograft Survival after Portal Vein Infusion of Dendritic Cells Transduced to Express TGFβ and IL-10, along with Administration of CHO Cells Expressing the Regulatory Molecule OX-2  Journal Articles
• Systemic GDF11 attenuates depression-like phenotype in aged mice via stimulation of neuronal autophagy  Journal Articles
• Systems Medicine Approaches for the Definition of Complex Phenotypes in Chronic Diseases and Ageing. From Concept to Implementation and Policies  Journal Articles
• T Cell Epitope Immunotherapy Induces a CD4+ T Cell Population with Regulatory Activity  Journal Articles
• T regulatory cell phenotypes in peripheral blood and bronchoalveolar lavage from non‐asthmatic and asthmatic subjects  Journal Articles
• TATA-binding protein activates transcription when upstream of a GCN4-binding site in a novel yeast promoter.  Journal Articles
• TGF-β1 Induces Progressive Pleural Scarring and Subpleural Fibrosis  Journal Articles
• TGF-β1 gene transfer to the mouse colon leads to intestinal fibrosis  Journal Articles
• THE EFFECT OF TEMPERATURE ON FLUORIDE-RESISTANT SERUM CHOLINESTERASE  Journal Articles
• Targeted copy number variant identification across the neurodegenerative disease spectrum  Journal Articles
• Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution  Journal Articles
• Techniques for Large-Scale Bacterial Genome Manipulation and Characterization of the Mutants with Respect to In Silico Metabolic Reconstructions  Journal Articles
• Telomerase, Cell Immortality, and Cancer  Journal Articles
• Temperament and its Relationship to Autistic Symptoms in a High-Risk Infant Sib Cohort  Journal Articles
• Temperament influences the relationship between symptom severity and adaptive functioning in children with autism spectrum disorder  Journal Articles
• Temperature during embryonic development has persistent effects on thermal acclimation capacity in zebrafish  Journal Articles
• Temperature‐ and exercise‐induced gene expression and metabolic enzyme changes in skeletal muscle of adult zebrafish (Danio rerio)  Journal Articles
• The Aim2Be mHealth Intervention for Children With Overweight or Obesity and Their Parents: Person-Centered Analyses to Uncover Digital Phenotypes  Journal Articles
• The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations  Journal Articles
• The Distribution of Obesity Phenotypes in HIV-Infected African Population  Journal Articles
• The Drosophila Gene RanBPM Functions in the Mushroom Body to Regulate Larval Behavior  Journal Articles
• The E2F cell cycle regulator is required for Drosophila nurse cell DNA replication and apoptosis  Journal Articles
• The Effect of Acute Exercise on Neutrophil Reactive Oxygen Species Production and Inflammatory Markers in Healthy Prepubertal and Adult Males  Journal Articles
• The Effect of Vitamin E Supplementation on Cardiovascular Risk in Diabetic Individuals With Different Haptoglobin Phenotypes  Journal Articles
• The Effects of Weak Genetic Perturbations on the Transcriptome of the Wing Imaginal Disc and Its Association With Wing Shape in Drosophila melanogaster  Journal Articles
• The Existence of the Borderline Diagnosis: Studies on Diagnostic Validity  Journal Articles
• The Familial Aggregation of the Lesser Variant in Biological and Nonbiological Relatives of PDD Probands: a Family History Study  Journal Articles
• The Family Borreliaceae (Spirochaetales), a Diverse Group in Two Genera of Tick-Borne Spirochetes of Mammals, Birds, and Reptiles  Journal Articles
• The Fetal Hypothalamus Has the Potential to Generate Cells with a Gonadotropin Releasing Hormone (GnRH) Phenotype  Journal Articles
• The Gene Encoding p120cas, a Novel Catenin, Localizes on Human Chromosome 11q11 (CTNND) and Mouse Chromosome 2 (Catns)  Journal Articles
• The HL‐A Type of Rg(a–) Individuals  Journal Articles
• The Novel Catenin p120casBinds Classical Cadherins and Induces an Unusual Morphological Phenotype in NIH3T3 Fibroblasts  Journal Articles
• The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature  Journal Articles
• The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease  Journal Articles
• The Role of HER-2/neu Oncogene and Vimentin Filaments in the Production of the Paget's Phenotype  Journal Articles
• The Role of Serotonin in Breast Cancer Stem Cells  Journal Articles
• The Role of the Host in Driving Phenotypic Heterogeneity in Salmonella  Journal Articles
• The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology  Journal Articles
• The amount of blood group A substance on platelets is proportional to the amount in the plasma  Journal Articles
• The association between malathion resistance and acetylcholinesterase in Drosophila melanogaster  Journal Articles
• The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease  Journal Articles
• The breast tumor microenvironment alters the phenotype and function of natural killer cells  Journal Articles
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders  Journal Articles
• The complex clinical and cognitive phenotype of adult patients with attention deficit hyperactivity disorder (ADHD) and comorbid hoarding disorder.  Journal Articles
• The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes  Journal Articles
• The environmental and genetic regulation of obake expressivity: morphogenetic fields as evolvable systems  Journal Articles
• The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy  Journal Articles
• The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy  Journal Articles
• The genetics of hemoglobin A₂ regulation in sickle cell anemia  Journal Articles
• The hereditary adult-onset ataxias in South Africa  Journal Articles
• The impact of machine learning techniques in the study of bipolar disorder: A systematic review  Journal Articles
• The incident tibiofemoral osteoarthritis with rapid progression phenotype: development and validation of a prognostic prediction rule  Journal Articles
• The justification for the progressive fibrotic phenotype  Journal Articles
• The keratocyte: Corneal stromal cell with variable repair phenotypes  Journal Articles
• The maternal prenatal and offspring early‐life gut microbiome of childhood asthma phenotypes  Journal Articles
• The molecular basis of emetine resistance in chinese hamster ovary cells: Alteration in the 40S ribosomal subunit  Journal Articles
• The nature of the hodgkin cell  Journal Articles
• The non-motile phenotype of Salmonella hha ydgT mutants is mediated through PefI-SrgD  Journal Articles
• The oncogenic role of circPVT1 in head and neck squamous cell carcinoma is mediated through the mutant p53/YAP/TEAD transcription-competent complex  Journal Articles
• The phenotypic manifestations of rare genic CNVs in autism spectrum disorder  Journal Articles
• The plasma concentration of activated protein C appears normal in patients with haemophilia  Journal Articles
• The potential influence of morphology on the evolutionary divergence of an acoustic signal  Journal Articles
• The potential to predict the course of childhood asthma  Journal Articles
• The protective effect of the obesity-associated rs9939609 A variant in fat mass- and obesity-associated gene on depression  Journal Articles
• The role of T lymphocytes in the pathogenesis of asthma  Journal Articles
• The role of developmental plasticity in evolutionary innovation  Journal Articles
• The search for autism disease genes  Journal Articles
• The tissue polarity gene nemo carries out multiple roles in patterning during Drosophila development  Journal Articles
• The transcription factor, Nuclear factor, erythroid 2 (Nfe2), is a regulator of the oxidative stress response during Danio rerio development  Journal Articles
• Thermal conditions experienced during differentiation affect metabolic and contractile phenotypes of mouse myotubes  Journal Articles
• Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy  Journal Articles
• Thrifty-Eating Behavior Phenotype at the Food Court – Programming Goes Beyond Food Preferences  Journal Articles
• Thrombin generation in vitro in the presence of by‐passing agents in siblings with severe haemophilia A  Journal Articles
• Thrombin generation abnormalities in commonly encountered platelet function disorders  Journal Articles
• Thrombosis in inherited factor VII deficiency  Journal Articles
• Thyroid hormone links environmental signals to DNA methylation  Journal Articles
• Tissue Factor and Thrombosis Models  Journal Articles
• Trait-to-Gene  Journal Articles
• Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders  Journal Articles
• Transcriptional induction of the conserved alternative sigma factor RpoS in Escherichia coli is dependent on BarA, a probable two‐component regulator  Journal Articles
• Transcriptomic and metabolomic analysis of Yukon Thellungiella plants grown in cabinets and their natural habitat show phenotypic plasticity  Journal Articles
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• Treadmill training–induced adaptations in muscle phenotype in persons with incomplete spinal cord injury  Journal Articles
• Tryptophan hydroxylase polymorphisms in suicide victims  Journal Articles
• Tumor cell traffic through the extracellular matrix is controlled by the membrane-anchored collagenase MT1-MMP  Journal Articles
• Tumour necrosis is an independent prognostic marker in non-small cell lung cancer: correlation with biological variables  Journal Articles
• Two children with muscular dystrophies ascertained due to referral for diagnosis of autism.  Journal Articles
• Unmasking of the Brugada Syndrome Phenotype During the Acute Phase of Amiodarone Infusion  Journal Articles
• Use of IMMPACT Recommendations to Explore Pain Phenotypes in People with Knee Osteoarthritis  Journal Articles
• Use of a programmable calculator in processing and interpreting serum cholinesterase phenotypes.  Journal Articles
• Use of genetic data to guide therapy in arterial disease  Journal Articles
• Using molecular classification to predict gains in maximal aerobic capacity following endurance exercise training in humans  Journal Articles
• Utility of Treadmill Testing in Identification and Genotype Prediction in Long-QT Syndrome  Journal Articles
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• Validation of a composite score for clinical severity of hemophilia  Journal Articles
• Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.  Journal Articles
• Variation of Phenotype in Charcot-Marie-Tooth Disease  Journal Articles
• Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study  Journal Articles
• WISH-PC2: a unique xenograft model of human prostatic small cell carcinoma.  Journal Articles
• What Defines NK Cell Functional Fate: Phenotype or Metabolism?  Journal Articles
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• Wheeze trajectories: Determinants and outcomes in the CHILD Cohort Study  Journal Articles
• Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder  Journal Articles
• Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Journal Articles
• Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Journal Articles
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• [ARIA (Allergic Rhinitis and its Impact on Asthma). Achievements in 10 years and future needs in Latin America].  Journal Articles
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• gJLS2: an R package for generalized joint location and scale analysis in X-inclusive genome-wide association studies  Journal Articles
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• α⁺-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]  Journal Articles
• α⁰-Thalassemia Due to a 90.7 kb Deletion (– –^NFLD)  Journal Articles
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