subject area of
- COL4A2 is associated with lacunar ischemic stroke and deep ICH Journal Articles
- Per3 length polymorphism in patients with type 2 diabetes mellitus Journal Articles
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Journal Articles - A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor Journal Articles
- A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families Journal Articles
- A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility Journal Articles
- A framework for an evidence-based gene list relevant to autism spectrum disorder Journal Articles
- A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders 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 regional genetic associations to complex traits from summary association statistics Journal Articles
- A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene Journal Articles
- A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy Journal Articles
- A review of the associations between single nucleotide polymorphisms in taste receptors, eating behaviors, and health Journal Articles
- AGTR1 gene variation: Association with depression and frontotemporal morphology Journal Articles
- Advances in Genomic Analysis of Stroke Journal Articles
- An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases Conferences
- Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool Journal Articles
- Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation Journal Articles
- Association between high expression macrophage migration inhibitory factor (MIF) alleles and West Nile virus encephalitis Journal Articles
- Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry Journal Articles
- Association of BRM promoter polymorphisms and esophageal adenocarcinoma outcome Journal Articles
- Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis Journal Articles
- Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses Journal Articles
- Autism Spectrum Disorders and Epigenetics Journal Articles
- Benefits and limitations of genome-wide association studies Journal Articles
- Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Journal Articles
- Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Journal Articles
- Causal Relationship between Adiponectin and Metabolic Traits: A Mendelian Randomization Study in a Multiethnic Population Journal Articles
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 Journal Articles
- Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study Journal Articles
- Common coding variant in SERPINA1 increases the risk for large artery stroke Journal Articles
- Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Journal Articles
- Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection Journal Articles
- DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients Journal Articles
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Journal Articles
- De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Journal Articles
- Decreased comfort food intake and allostatic load in adolescents carrying the A3669G variant of the glucocorticoid receptor gene Journal Articles
- Diagnosis of ‘possible’ mitochondrial disease: an existential crisis 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
- Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution Journal Articles
- Effect of Genetic Variants Associated With Plasma Homocysteine Levels on Stroke Risk Journal Articles
- Empirical evaluation of the Q-Genie tool: a protocol for assessment of effectiveness Journal Articles
- Evaluation of the Disease Liability of CFTR Variants Journal Articles
- Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium 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
- Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry Journal Articles
- Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations Journal Articles
- Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial Journal Articles
- Genetic basis of delay discounting in frequent gamblers: examination of a priori candidates and exploration of a panel of dopamine‐related loci Journal Articles
- Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study Journal Articles
- Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status Journal Articles
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Genotype and phenotype in 12 additional individuals with
SATB2 ‐associated syndrome Journal Articles - Genotype-phenotype correlations in recessive RYR1-related myopathies Journal Articles
- Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency Journal Articles
- HS3ST1 genotype regulates antithrombin's inflammomodulatory tone and associates with atherosclerosis Journal Articles
- Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation 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
- Heart rate variability in leucine‐rich repeat kinase 2‐associated Parkinson's disease Journal Articles
- Hierarchical investigation of genetic influences on response inhibition in healthy young adults. Journal Articles
- IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis Journal Articles
- Investigation of Genetic Variants, Birthweight and Hypothalamic-Pituitary-Adrenal Axis Function Suggests a Genetic Variant in the SERPINA6 Gene Is Associated with Corticosteroid Binding Globulin in the Western Australia Pregnancy Cohort (Raine) Study Journal Articles
- KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases Journal Articles
- Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations Journal Articles
- L. rhamnosus improves the immune response and tryptophan catabolism in laying hen pullets Journal Articles
- Longitudinal Data Analysis in Genome‐Wide Association Studies Journal Articles
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Maternal childhood adversity and child temperament: An association moderated by child 5‐
HTTLPR genotype Journal Articles - Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF Journal Articles
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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 - Moderating effect of PLIN4 genetic variant on impulsivity traits in 5-year-old-children born small for gestational age Journal Articles
- Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia Journal Articles
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Molecular structural analysis of a novel and de‐novo mutation in the
SERPINC 1 gene associated with type 1 antithrombin deficiency Journal Articles - Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study Journal Articles
- Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Journal Articles
- Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Journal Articles
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome Journal Articles
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Journal Articles
- Obesity Genes and Risk of Major Depressive Disorder in a Multiethnic Population Journal Articles
- On the Use of Variance per Genotype as a Tool to Identify Quantitative Trait Interaction Effects: A Report from the Women's Genome Health Study Journal Articles
- Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders Journal Articles
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Journal Articles
- Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization Journal Articles
- Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg) 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
- Physical activity and genetic predisposition to obesity in a multiethnic longitudinal study Journal Articles
- PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure Journal Articles
- Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders Journal Articles
- Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene Journal Articles
- Preventing Alzheimer's disease and cognitive decline. Journal Articles
- Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities Journal Articles
- Recommendations From the International Stroke Genetics Consortium, Part 2 Journal Articles
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Journal Articles
- Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study Journal Articles
- Robustness encoded across essential and accessory replicons of the ecologically versatile bacterium Sinorhizobium meliloti Journal Articles
- SNPs in DNA repair or oxidative stress genes and late subcutaneous fibrosis in patients following single shot partial breast irradiation Journal Articles
- Single Nucleotide Polymorphisms Alter the Promoter Activity of Bovine MIF Journal Articles
- Single Nucleotide Polymorphisms in Taste Receptor Genes Are Associated with Snacking Patterns of Preschool-Aged Children in the Guelph Family Health Study: A Pilot Study Journal Articles
- Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Journal Articles
- StrandAdvantage test for early‐line and advanced‐stage treatment decisions in solid tumors Journal Articles
- Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis Journal Articles
- Testing genotypes-phenotype relationships using permutation tests on association rules Journal Articles
- The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders Journal Articles
- The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study Journal Articles
- The Human Ortholog of Acid-Sensing Ion Channel Gene ASIC1a Is Associated With Panic Disorder and Amygdala Structure and Function Journal Articles
- The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome Journal Articles
- The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Journal Articles
- Thrombus stability explains the factor V Leiden paradox: a mouse model Journal Articles
- Transformation of the Anticancer Drug Doxorubicin in the Human Gut Microbiome Journal Articles
- What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations Journal Articles
- α0-Thalassemia Due to a 90.7 kb Deletion (– –NFLD) Journal Articles