Benjamin Raby, MD, MPH
Chief, Division of Pulmonary Medicine
Leila and Irving Perlmutter Professor of Pediatrics, Harvard Medical School
Image
Benjamin Raby, MD, MPH
Chief, Division of Pulmonary Medicine
Leila and Irving Perlmutter Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
French
Education
Medical School
McGill University
1995
Montreal, Quebec
Canada
Residency
McGill University
1998
Montreal, Quebec
Canada
Fellowship
Clinical Fellow, Pulmonary Medicine
Sir Mortimer B. Davis - Jewish General Hospital/McGill University
2000
Montreal, Quebec
Canada
Fellowship
Research Fellow, Genomics
Genome Center/McGill University
2001
Montreal, Quebec
Canada
Certifications
American Board of Internal Medicine (Pulmonary Disease)
Professional History
Dr. Benjamin Raby serves as the Director of the BWH Pulmonary Genetics Center, where he and his clinical team evaluate and care for patients with genetic forms of lung disease and provide counseling and diagnostic services to their at-risk relatives. He is an executive member of the BWH Center for Clinical Investigation and is Course Director of the Translational Genetics and Omics course of the Harvard Clinical and Translational Research Academy. In addition to seeing patients in the Pulmonary Genetics Center, Dr. Raby also attends on the inpatient Pulmonary Consult Service in the Division of Pulmonary and Critical Care Medicine at BWH.
In 2012, Dr. Raby established the BWH Pulmonary Genetics Center - a first-of-its kind unit, which serves patients with suspected genetic pulmonary disorders by providing specialized diagnostic and genetic counseling services and coordinates translational research initiatives to evaluate the role of genetic information in clinical practice. These include the Pulmonary Precision Medicine Initiative, which studies the utility of genetic testing in two clinical contexts (the evaluation of lung transplant candidates and in the evaluation of patients with idiopathic bronchiectasis), and another study evaluating the merits of screening at-risk relatives of patients with idiopathic pulmonary fibrosis. His work has been described in more than 170 published articles. In 2015 he was elected to the American Society of Clinical Investigation, and he is a standing member of the NIH NHLBI Mentored Clinical and Basic Science Review Committee. Dr. Raby also serves as Genetics Section Editor for UpToDate, where he oversees the development of genetics and genomics content across sub-specialties.
Publications
Smooth muscle Cxcl12 contributions to vascular remodeling in flow and hypoxia-induced pulmonary hypertension. View Abstract
Revisiting Infant Pulmonary Function Testing: The Role of Passive Expiration From Total Lung Capacity. View Abstract
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-a biologic therapy. View Abstract
Protein biomarkers of interstitial lung abnormalities in relatives of patients with pulmonary fibrosis. View Abstract
Specialized pericyte subtypes in the pulmonary capillaries. View Abstract
Development, Progression, and Mortality of Suspected Interstitial Lung Disease in COPDGene. View Abstract
Smooth muscle Cxcl12 activation is associated with vascular remodeling in flow-induced pulmonary hypertension. View Abstract
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. View Abstract
Sleeve Gastrectomy is Associated with Longitudinal Improvements in Lung Function and Patient-Reported Respiratory Outcomes. View Abstract
Gasdermin B, an asthma-susceptibility gene, promotes MAVS-TBK1 signalling and airway inflammation. View Abstract
Biomarker-Based Risk Stratification Tool in Pediatric Acute Respiratory Distress Syndrome: Single-Center, Longitudinal Validation in a 2014-2019 Cohort. View Abstract
The Asthma Risk Gene, GSDMB, Promotes Mitochondrial DNA-induced ISGs Expression. View Abstract
GSDMB/ORMDL3 Rare/Common Variants Are Associated with Inhaled Corticosteroid Response among Children with Asthma. View Abstract
Pericytes contribute to pulmonary vascular remodeling via HIF2a signaling. View Abstract
Detecting and dissecting signaling crosstalk via the multilayer network integration of signaling and regulatory interactions. View Abstract
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. View Abstract
A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities. View Abstract
Pericytes Contribute to Flow-induced Pulmonary Hypertension. View Abstract
ACDC: a general approach for detecting phenotype or exposure associated co-expression. View Abstract
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. View Abstract
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies. View Abstract
Progressive Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis. View Abstract
Suspected Interstitial Lung Disease in COPDGene Study. View Abstract
Interstitial lung abnormalities are associated with decreased mean telomere length. View Abstract
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. View Abstract
Single Cell Transcriptomic Analysis Reveals Organ Specific Pericyte Markers and Identities. View Abstract
Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium. View Abstract
Progenitor potential of lung epithelial organoid cells in a transplantation model. View Abstract
Inflammasome activation in neutrophils of patients with severe COVID-19. View Abstract
Early Changes in Immune Cell Count, Metabolism, and Function Following Sleeve Gastrectomy: A Prospective Human Study. View Abstract
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. View Abstract
Interferon-alpha or -beta facilitates SARS-CoV-2 pulmonary vascular infection by inducing ACE2. View Abstract
Regulated on Activation, NormalT cell Expressed and Secreted (RANTES) drives the resolution of allergic asthma. View Abstract
Interleukin-6 Receptor Antagonists in Critically Ill Patients with Covid-19. Reply. View Abstract
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. View Abstract
Author Correction: Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome. View Abstract
Diversity and the Splice of Life: Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African American Individuals. View Abstract
A novel locus for exertional dyspnoea in childhood asthma. View Abstract
Roles of Postdiagnosis Accumulation of Morbidities and Lifestyle Changes in Excess Total and Cause-Specific Mortality Risk in Rheumatoid Arthritis. View Abstract
Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals. View Abstract
Effect of Intrauterine Smoke Exposure on microRNA-15a Expression in Human Lung Development and Subsequent Asthma Risk. View Abstract
Early changes in immune cell metabolism and function are a hallmark of sleeve gastrectomy: a prospective human study. View Abstract
Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum? View Abstract
Role of nuclear factor of activated T cells 2 (NFATc2) in allergic asthma. View Abstract
Network study of nasal transcriptome profiles reveals master regulator genes of asthma. View Abstract
From 2D to 3D: Promising Advances in Imaging Lung Structure. View Abstract
Single-cell RNA-seq reveals ectopic and aberrant lung-resident cell populations in idiopathic pulmonary fibrosis. View Abstract
Shorter telomere length following lung transplantation is associated with clinically significant leukopenia and decreased chronic lung allograft dysfunction-free survival. View Abstract
Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis. View Abstract
Involvement of fine particulate matter exposure with gene expression pathways in breast tumor and adjacent-normal breast tissue. View Abstract
Pulmonary Eosinophilic Granulomatosis with Polyangiitis Has IgG4 Plasma Cells and Immunoregulatory Features. View Abstract
Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome. View Abstract
Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis. View Abstract
Expression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy. View Abstract
Biobanking and cryopreservation of human lung explants for omic analysis. View Abstract
An RNA-seq primer for pulmonologists. View Abstract
Targeted deletion of NFAT-Interacting-Protein-(NIP) 45 resolves experimental asthma by inhibiting Innate Lymphoid Cells group 2 (ILC2). View Abstract
The role of the 17q21 genotype in the prevention of early childhood asthma and recurrent wheeze by vitamin D. View Abstract
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. View Abstract
Unique Effect of Aspirin Therapy on Biomarkers in Aspirin-exacerbated Respiratory Disease. A Prospective Trial. View Abstract
DNA methylation is associated with inhaled corticosteroid response in persistent childhood asthmatics. View Abstract
Asthma severity, nature or nurture: genetic determinants. View Abstract
The Genetics of Pneumothorax. View Abstract
Sex differences in gene expression in response to ischemia in the human left ventricular myocardium. View Abstract
A bronchial-airway gene-expression classifier to improve the diagnosis of lung cancer: Clinical outcomes and cost-effectiveness analysis. View Abstract
DNA methylation is associated with improvement in lung function on inhaled corticosteroids in pediatric asthmatics. View Abstract
Asthma severity, nature or nurture: genetic determinants. View Abstract
TFutils: Data structures for transcription factor bioinformatics. View Abstract
Genetic-Epigenetic Interactions in Asthma Revealed by a Genome-Wide Gene-Centric Search. View Abstract
Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing. View Abstract
Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement. View Abstract
Novel eosinophilic gene expression networks associated with IgE in two distinct asthma populations. View Abstract
Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study. View Abstract
Gene Coexpression Networks in Whole Blood Implicate Multiple Interrelated Molecular Pathways in Obesity in People with Asthma. View Abstract
An admixture mapping meta-analysis implicates genetic variation at 18q21 with asthma susceptibility in Latinos. View Abstract
Integrative epigenomic analysis in differentiated human primary bronchial epithelial cells exposed to cigarette smoke. View Abstract
TREM-1 Response Signatures Common to Expression Profiles of Both Asthma Affection and Asthma Control. View Abstract
A Nasal Brush-based Classifier of Asthma Identified by Machine Learning Analysis of Nasal RNA Sequence Data. View Abstract
A trial of type 12 purinergic (P2Y12) receptor inhibition with prasugrel identifies a potentially distinct endotype of patients with aspirin-exacerbated respiratory disease. View Abstract
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. View Abstract
Role of local CpG DNA methylation in mediating the 17q21 asthma susceptibility gasdermin B (GSDMB)/ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3) expression quantitative trait locus. View Abstract
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. View Abstract
Familial pneumothorax: towards precision medicine. View Abstract
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. View Abstract
Rheumatoid arthritis and risk of chronic obstructive pulmonary disease or asthma among women: A marginal structural model analysis in the Nurses' Health Study. View Abstract
The MUC5B promoter polymorphism is associated with specific interstitial lung abnormality subtypes. View Abstract
Cover Image, Volume 173A, Number 8, August 2017. View Abstract
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. View Abstract
MUC1 inhibition leads to decrease in PD-L1 levels via upregulation of miRNAs. View Abstract
A meta-analysis of genome-wide association studies of asthma in Puerto Ricans. View Abstract
Detecting disease-associated genomic outcomes using constrained mixture of Bayesian hierarchical models for paired data. View Abstract
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types. View Abstract
Gene Expression Profiling in Blood Provides Reproducible Molecular Insights into Asthma Control. View Abstract
Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma. View Abstract
Whole genome prediction and heritability of childhood asthma phenotypes. View Abstract
Gene expression network analyses in response to air pollution exposures in the trucking industry. View Abstract
Lung Metabolic Activation as an Early Biomarker of Acute Respiratory Distress Syndrome and Local Gene Expression Heterogeneity. View Abstract
Association of Donor and Recipient Telomere Length with Clinical Outcomes following Lung Transplantation. View Abstract
A Chronic Obstructive Pulmonary Disease Susceptibility Gene, FAM13A, Regulates Protein Stability of ß-Catenin. View Abstract
Patterns of Growth and Decline in Lung Function in Persistent Childhood Asthma. View Abstract
Increased expression of nuclear factor of activated T cells 1 drives IL-9-mediated allergic asthma. View Abstract
Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma. View Abstract
Cigarette Smoking Induces Changes in Airway Epithelial Expression of Genes Associated with Monogenic Lung Disorders. View Abstract
Gene expression profiling of asthma phenotypes demonstrates molecular signatures of atopy and asthma control. View Abstract
Impaired E Prostanoid2 Expression and Resistance to Prostaglandin E2 in Nasal Polyp Fibroblasts from Subjects with Aspirin-Exacerbated Respiratory Disease. View Abstract
Anticholinergic vs Long-Acting ß-Agonist in Combination With Inhaled Corticosteroids in Black Adults With Asthma: The BELT Randomized Clinical Trial. View Abstract
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. View Abstract
Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation. View Abstract
A prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics. View Abstract
A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. View Abstract
Nuclear bioavailability of the glucocorticoid receptor in a pediatric asthma cohort with variable corticosteroid responsiveness. View Abstract
Integrated microRNA and mRNA responses to acute human left ventricular ischemia. View Abstract
Stress and Bronchodilator Response in Children with Asthma. View Abstract
CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies. View Abstract
Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease. View Abstract
Noninvasive analysis of the sputum transcriptome discriminates clinical phenotypes of asthma. View Abstract
The metabolomics of asthma control: a promising link between genetics and disease. View Abstract
Glucocorticoid genes and the developmental origins of asthma susceptibility and treatment response. View Abstract
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma. View Abstract
A disease module in the interactome explains disease heterogeneity, drug response and captures novel pathways and genes in asthma. View Abstract
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. View Abstract
Joint GWAS Analysis: Comparing similar GWAS at different genomic resolutions identifies novel pathway associations with six complex diseases. View Abstract
Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci. View Abstract
Circadian rhythm reprogramming during lung inflammation. View Abstract
Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. View Abstract
Prenatal tobacco smoke exposure is associated with childhood DNA CpG methylation. View Abstract
Analyzing networks of phenotypes in complex diseases: methodology and applications in COPD. View Abstract
A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes. View Abstract
Genome-wide interaction studies reveal sex-specific asthma risk alleles. View Abstract
Classification of childhood asthma phenotypes and long-term clinical responses to inhaled anti-inflammatory medications. View Abstract
Pharmacogenomics: novel loci identification via integrating gene differential analysis and eQTL analysis. View Abstract
Metabolomic derangements are associated with mortality in critically ill adult patients. View Abstract
ß-2 adrenergic receptor gene methylation is associated with decreased asthma severity in inner-city schoolchildren: asthma and rhinitis. View Abstract
Gene expression profiling in asthma. View Abstract
ITGB5 and AGFG1 variants are associated with severity of airway responsiveness. View Abstract
Copy number variation genotyping using family information. View Abstract
Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility. View Abstract
Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells. View Abstract
Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene. View Abstract
HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults. View Abstract
A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations. View Abstract
Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans. View Abstract
Very important pharmacogene summary for VDR. View Abstract
Salt sensitivity of blood pressure is associated with polymorphisms in the sodium-bicarbonate cotransporter. View Abstract
Maternal allergen exposure reprograms the developmental lung transcriptome in atopic and normoresponsive rat pups. View Abstract
Different polymorphisms of the mineralocorticoid receptor gene are associated with either glucocorticoid or mineralocorticoid levels in hypertension. View Abstract
Genome-wide association study of the age of onset of childhood asthma. View Abstract
On your marks, get set, go! View Abstract
Lysine-specific demethylase 1: an epigenetic regulator of salt-sensitive hypertension. View Abstract
A database of annotated promoters of genes associated with common respiratory and related diseases. View Abstract
Resequencing candidate genes implicates rare variants in asthma susceptibility. View Abstract
Gene-by-environment effect of house dust mite on purinergic receptor P2Y12 (P2RY12) and lung function in children with asthma. View Abstract
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. View Abstract
Finding disease variants in Mendelian disorders by using sequence data: methods and applications. View Abstract
Identifying causal rare variants of disease through family-based analysis of Genetics Analysis Workshop 17 data set. View Abstract
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. View Abstract
Replication and meta-analysis of the gene-environment interaction between body mass index and the interleukin-6 promoter polymorphism with higher insulin resistance. View Abstract
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. View Abstract
Quantifying differential gene connectivity between disease states for objective identification of disease-relevant genes. View Abstract
Variants of the caveolin-1 gene: a translational investigation linking insulin resistance and hypertension. View Abstract
Renin gene polymorphism: its relationship to hypertension, renin levels and vascular responses. View Abstract
The CD4+ T-cell transcriptome and serum IgE in asthma: IL17RB and the role of sex. View Abstract
Association of SERPINE2 with asthma. View Abstract
Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes. View Abstract
The association of the angiotensinogen gene with insulin sensitivity in humans: a tagging single nucleotide polymorphism and haplotype approach. View Abstract
The impact of self-identified race on epidemiologic studies of gene expression. View Abstract
Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. View Abstract
TSLP polymorphisms are associated with asthma in a sex-specific fashion. View Abstract
Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. View Abstract
On the genome-wide analysis of copy number variants in family-based designs: methods for combining family-based and population-based information for testing dichotomous or quantitative traits, or completely ascertained samples. View Abstract
Asthma-susceptibility variants identified using probands in case-control and family-based analyses. View Abstract
In utero smoke exposure and impaired response to inhaled corticosteroids in children with asthma. View Abstract
The relationship between peroxisome proliferator-activated receptor-gamma and renin: a human genetics study. View Abstract
Risk factors and predictive clinical scores for asthma exacerbations in childhood. View Abstract
Using canonical correlation analysis to discover genetic regulatory variants. View Abstract
Pulmonary function and emphysema in Williams-Beuren syndrome. View Abstract
Genetic influences on asthma susceptibility in the developing lung. View Abstract
Stronger evidence for replication of NPPA using genome-wide genotyping data. View Abstract
MMP12, lung function, and COPD in high-risk populations. View Abstract
Parsing the effects of individual SNPs in candidate genes with family data. View Abstract
A role for Wnt signaling genes in the pathogenesis of impaired lung function in asthma. View Abstract
A genome-wide association study on African-ancestry populations for asthma. View Abstract
The interaction of glutathione S-transferase M1-null variants with tobacco smoke exposure and the development of childhood asthma. View Abstract
Asthma and genes encoding components of the vitamin D pathway. View Abstract
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. View Abstract
Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children. View Abstract
Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma. View Abstract
Asthma genetics and genomics 2009. View Abstract
A graphical model approach for inferring large-scale networks integrating gene expression and genetic polymorphism. View Abstract
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. View Abstract
Data structures and algorithms for analysis of genetics of gene expression with Bioconductor: GGtools 3.x. View Abstract
Assessing the reproducibility of asthma candidate gene associations, using genome-wide data. View Abstract
Impact of population stratification on family-based association tests with longitudinal measurements. View Abstract
Association of VEGF polymorphisms with childhood asthma, lung function and airway responsiveness. View Abstract
Genetic mapping of pharmacogenetic regulatory variation. View Abstract
Folliculin mutations are not associated with severe COPD. View Abstract
Variants in TGFB1, dust mite exposure, and disease severity in children with asthma. View Abstract
High-resolution melting curve analysis of genomic and whole-genome amplified DNA. View Abstract
Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease. View Abstract
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. View Abstract
On the frequency of copy number variants. View Abstract
Genes to diseases (G2D) computational method to identify asthma candidate genes. View Abstract
Polymorphisms in IL12A and cockroach allergy in children with asthma. View Abstract
Genomics and genome-wide association studies: an integrative approach to expression QTL mapping. View Abstract
Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations. View Abstract
On the replication of genetic associations: timing can be everything! View Abstract
On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test. View Abstract
Sex-stratified linkage analysis identifies a female-specific locus for IgE to cockroach in Costa Ricans. View Abstract
Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. View Abstract
Paternal asthma, mold exposure, and increased airway responsiveness among children with asthma in Costa Rica. View Abstract
Comprehensive testing of positionally cloned asthma genes in two populations. View Abstract
A common mitochondrial haplogroup is associated with elevated total serum IgE levels. View Abstract
On dichotomizing phenotypes in family-based association tests: quantitative phenotypes are not always the optimal choice. View Abstract
Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood. View Abstract
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. View Abstract
Ala92 type 2 deiodinase allele increases risk for the development of hypertension. View Abstract
Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica. View Abstract
Genetic linkage and association analysis of COPD-related traits on chromosome 8p. View Abstract
Beta-2 adrenergic receptor diplotype defines a subset of salt-sensitive hypertension. View Abstract
Genetic determinants of functional impairment in chronic obstructive pulmonary disease. View Abstract
Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. View Abstract
Eotaxin polymorphisms and serum total IgE levels in children with asthma. View Abstract
Family-based association test for time-to-onset data with time-dependent differences between the hazard functions. View Abstract
T-bet polymorphisms are associated with asthma and airway hyperresponsiveness. View Abstract
A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. View Abstract
Genomic screening and replication using the same data set in family-based association testing. View Abstract
Paternal history of asthma and airway responsiveness in children with asthma. View Abstract
Association of defensin beta-1 gene polymorphisms with asthma. View Abstract
TBX21: a functional variant predicts improvement in asthma with the use of inhaled corticosteroids. View Abstract
Low-normal gestational age as a predictor of asthma at 6 years of age. View Abstract
The IL12B gene is associated with asthma. View Abstract
A family-based association test for repeatedly measured quantitative traits adjusting for unknown environmental and/or polygenic effects. View Abstract
Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. View Abstract
Association of vitamin D receptor gene polymorphisms with childhood and adult asthma. View Abstract
ADAM33: where are we now? View Abstract
Endotoxin exposure and eczema in the first year of life. View Abstract
TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples. View Abstract
The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). View Abstract
ADAM33 polymorphisms and phenotype associations in childhood asthma. View Abstract
Asthma genetics 2003. View Abstract
IL10 gene polymorphisms are associated with asthma phenotypes in children. View Abstract
Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma. View Abstract
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. View Abstract
The molecular basis of glutamate formiminotransferase deficiency. View Abstract
A new powerful non-parametric two-stage approach for testing multiple phenotypes in family-based association studies. View Abstract
Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies. View Abstract
Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes. View Abstract
Beta2-adrenergic receptor genetics. View Abstract
Motogenic effect of recombinant HGF on airway epithelial cells during the in vitro wound repair of the respiratory epithelium. View Abstract
Does knowledge guide practice? Another look at the management of non-small-cell lung cancer. View Abstract