MEDICAL SERVICES

Departments

Programs

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

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

Publications powered by Harvard Catalyst Profiles

  1. Diversity and the Splice of Life: Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African American Individuals. Am J Respir Crit Care Med. 2021 02 15; 203(4):401-403. View abstract
  2. A novel locus for exertional dyspnoea in childhood asthma. Eur Respir J. 2021 Feb; 57(2). View abstract
  3. Roles of Postdiagnosis Accumulation of Morbidities and Lifestyle Changes in Excess Total and Cause-Specific Mortality Risk in Rheumatoid Arthritis. Arthritis Care Res (Hoboken). 2021 02; 73(2):188-198. View abstract
  4. Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals. Thorax. 2021 Jan 22. View abstract
  5. Effect of Intrauterine Smoke Exposure on microRNA-15a Expression in Human Lung Development and Subsequent Asthma Risk. Healthcare (Basel). 2020 Dec 04; 8(4). View abstract
  6. Early changes in immune cell metabolism and function are a hallmark of sleeve gastrectomy: a prospective human study. medRxiv. 2020 Nov 03. View abstract
  7. Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum? Clin Med (Lond). 2020 Nov; 20(6):e264-e266. View abstract
  8. Role of nuclear factor of activated T cells 2 (NFATc2) in allergic asthma. Immun Inflamm Dis. 2020 12; 8(4):704-712. View abstract
  9. Network study of nasal transcriptome profiles reveals master regulator genes of asthma. J Allergy Clin Immunol. 2021 Mar; 147(3):879-893. View abstract
  10. From 2D to 3D: Promising Advances in Imaging Lung Structure. Front Med (Lausanne). 2020; 7:343. View abstract
  11. Single-cell RNA-seq reveals ectopic and aberrant lung-resident cell populations in idiopathic pulmonary fibrosis. Sci Adv. 2020 Jul; 6(28):eaba1983. View abstract
  12. Shorter telomere length following lung transplantation is associated with clinically significant leukopenia and decreased chronic lung allograft dysfunction-free survival. ERJ Open Res. 2020 Apr; 6(2). View abstract
  13. Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis. Am J Respir Crit Care Med. 2020 05 15; 201(10):1240-1248. View abstract
  14. Involvement of fine particulate matter exposure with gene expression pathways in breast tumor and adjacent-normal breast tissue. Environ Res. 2020 07; 186:109535. View abstract
  15. Pulmonary Eosinophilic Granulomatosis with Polyangiitis Has IgG4 Plasma Cells and Immunoregulatory Features. Am J Pathol. 2020 07; 190(7):1438-1448. View abstract
  16. Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome. Nat Commun. 2020 02 10; 11(1):811. View abstract
  17. Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis. Rheumatol Int. 2020 Aug; 40(8):1301-1307. View abstract
  18. Expression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy. Respir Res. 2020 Jan 28; 21(1):31. View abstract
  19. An RNA-seq primer for pulmonologists. Eur Respir J. 2020 01; 55(1). View abstract
  20. Biobanking and cryopreservation of human lung explants for omic analysis. Eur Respir J. 2020 01; 55(1). View abstract
  21. Targeted deletion of NFAT-Interacting-Protein-(NIP) 45 resolves experimental asthma by inhibiting Innate Lymphoid Cells group 2 (ILC2). Sci Rep. 2019 10 30; 9(1):15695. View abstract
  22. The role of the 17q21 genotype in the prevention of early childhood asthma and recurrent wheeze by vitamin D. Eur Respir J. 2019 10; 54(4). View abstract
  23. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. Chest. 2019 12; 156(6):1068-1079. View abstract
  24. Unique Effect of Aspirin Therapy on Biomarkers in Aspirin-exacerbated Respiratory Disease. A Prospective Trial. Am J Respir Crit Care Med. 2019 09 15; 200(6):704-711. View abstract
  25. DNA methylation is associated with inhaled corticosteroid response in persistent childhood asthmatics. Clin Exp Allergy. 2019 09; 49(9):1225-1234. View abstract
  26. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 06 01; 199(11):1344-1357. View abstract
  27. Asthma severity, nature or nurture: genetic determinants. Curr Opin Pediatr. 2019 06; 31(3):340-348. View abstract
  28. Sex differences in gene expression in response to ischemia in the human left ventricular myocardium. Hum Mol Genet. 2019 05 15; 28(10):1682-1693. View abstract
  29. A bronchial-airway gene-expression classifier to improve the diagnosis of lung cancer: Clinical outcomes and cost-effectiveness analysis. Int J Cancer. 2020 02 01; 146(3):781-790. View abstract
  30. DNA methylation is associated with improvement in lung function on inhaled corticosteroids in pediatric asthmatics. Pharmacogenet Genomics. 2019 04; 29(3):65-68. View abstract
  31. Asthma severity, nature or nurture: genetic determinants. Curr Opin Pediatr. 2019 Mar 20. View abstract
  32. TFutils: Data structures for transcription factor bioinformatics. F1000Res. 2019; 8:152. View abstract
  33. Genetic-Epigenetic Interactions in Asthma Revealed by a Genome-Wide Gene-Centric Search. Hum Hered. 2018; 83(3):130-152. View abstract
  34. Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing. Am J Respir Crit Care Med. 2019 01 15; 199(2):246-248. View abstract
  35. 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. Am J Respir Crit Care Med. 2018 12 15; 198(12):e116-e136. View abstract
  36. Novel eosinophilic gene expression networks associated with IgE in two distinct asthma populations. Clin Exp Allergy. 2018 12; 48(12):1654-1664. View abstract
  37. Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study. Respir Res. 2018 Oct 29; 19(1):209. View abstract
  38. Gene Coexpression Networks in Whole Blood Implicate Multiple Interrelated Molecular Pathways in Obesity in People with Asthma. Obesity (Silver Spring). 2018 12; 26(12):1938-1948. View abstract
  39. An admixture mapping meta-analysis implicates genetic variation at 18q21 with asthma susceptibility in Latinos. J Allergy Clin Immunol. 2019 03; 143(3):957-969. View abstract
  40. Integrative epigenomic analysis in differentiated human primary bronchial epithelial cells exposed to cigarette smoke. Sci Rep. 2018 08 24; 8(1):12750. View abstract
  41. TREM-1 Response Signatures Common to Expression Profiles of Both Asthma Affection and Asthma Control. Am J Respir Crit Care Med. 2018 08 01; 198(3):401-404. View abstract
  42. A Nasal Brush-based Classifier of Asthma Identified by Machine Learning Analysis of Nasal RNA Sequence Data. Sci Rep. 2018 06 11; 8(1):8826. View abstract
  43. A trial of type 12 purinergic (P2Y12) receptor inhibition with prasugrel identifies a potentially distinct endotype of patients with aspirin-exacerbated respiratory disease. J Allergy Clin Immunol. 2019 01; 143(1):316-324.e7. View abstract
  44. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 02 02; 9(1):554. View abstract
  45. 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. J Allergy Clin Immunol. 2018 06; 141(6):2282-2286.e6. View abstract
  46. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 01 04; 9(1):67. View abstract
  47. Familial pneumothorax: towards precision medicine. Thorax. 2018 03; 73(3):270-276. View abstract
  48. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nat Genet. 2018 01; 50(1):42-53. View abstract
  49. Rheumatoid arthritis and risk of chronic obstructive pulmonary disease or asthma among women: A marginal structural model analysis in the Nurses' Health Study. Semin Arthritis Rheum. 2018 04; 47(5):639-648. View abstract
  50. The MUC5B promoter polymorphism is associated with specific interstitial lung abnormality subtypes. Eur Respir J. 2017 09; 50(3). View abstract
  51. Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. View abstract
  52. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. . 2017 Aug; 173(8):2235-2239. View abstract
  53. MUC1 inhibition leads to decrease in PD-L1 levels via upregulation of miRNAs. Leukemia. 2017 12; 31(12):2780-2790. View abstract
  54. A meta-analysis of genome-wide association studies of asthma in Puerto Ricans. Eur Respir J. 2017 05; 49(5). View abstract
  55. Detecting disease-associated genomic outcomes using constrained mixture of Bayesian hierarchical models for paired data. PLoS One. 2017; 12(3):e0174602. View abstract
  56. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types. Nat Genet. 2017 Apr; 49(4):600-605. View abstract
  57. Gene Expression Profiling in Blood Provides Reproducible Molecular Insights into Asthma Control. Am J Respir Crit Care Med. 2017 01 15; 195(2):179-188. View abstract
  58. Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma. Am J Respir Crit Care Med. 2016 12 15; 194(12):1465-1474. View abstract
  59. Whole genome prediction and heritability of childhood asthma phenotypes. Immun Inflamm Dis. 2016 12; 4(4):487-496. View abstract
  60. Gene expression network analyses in response to air pollution exposures in the trucking industry. Environ Health. 2016 11 03; 15(1):101. View abstract
  61. Lung Metabolic Activation as an Early Biomarker of Acute Respiratory Distress Syndrome and Local Gene Expression Heterogeneity. Anesthesiology. 2016 11; 125(5):992-1004. View abstract
  62. Association of Donor and Recipient Telomere Length with Clinical Outcomes following Lung Transplantation. PLoS One. 2016; 11(9):e0162409. View abstract
  63. A Chronic Obstructive Pulmonary Disease Susceptibility Gene, FAM13A, Regulates Protein Stability of ß-Catenin. Am J Respir Crit Care Med. 2016 07 15; 194(2):185-97. View abstract
  64. Patterns of Growth and Decline in Lung Function in Persistent Childhood Asthma. N Engl J Med. 2016 May 12; 374(19):1842-1852. View abstract
  65. Increased expression of nuclear factor of activated T cells 1 drives IL-9-mediated allergic asthma. J Allergy Clin Immunol. 2016 06; 137(6):1898-1902.e7. View abstract
  66. Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma. Ann Am Thorac Soc. 2016 Mar; 13 Suppl 1:S104-5. View abstract
  67. Cigarette Smoking Induces Changes in Airway Epithelial Expression of Genes Associated with Monogenic Lung Disorders. Am J Respir Crit Care Med. 2016 Jan 15; 193(2):215-7. View abstract
  68. Gene expression profiling of asthma phenotypes demonstrates molecular signatures of atopy and asthma control. J Allergy Clin Immunol. 2016 05; 137(5):1390-1397.e6. View abstract
  69. Impaired E Prostanoid2 Expression and Resistance to Prostaglandin E2 in Nasal Polyp Fibroblasts from Subjects with Aspirin-Exacerbated Respiratory Disease. Am J Respir Cell Mol Biol. 2016 Jan; 54(1):34-40. View abstract
  70. Anticholinergic vs Long-Acting ß-Agonist in Combination With Inhaled Corticosteroids in Black Adults With Asthma: The BELT Randomized Clinical Trial. JAMA. 2015 Oct 27; 314(16):1720-30. View abstract
  71. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nat Genet. 2015 Dec; 47(12):1449-1456. View abstract
  72. Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation. PLoS One. 2015; 10(10):e0140758. View abstract
  73. A prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics. Metabolism. 2015 Dec; 64(12):1674-81. View abstract
  74. A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. Am J Respir Crit Care Med. 2015 Sep 01; 192(5):634-7. View abstract
  75. Nuclear bioavailability of the glucocorticoid receptor in a pediatric asthma cohort with variable corticosteroid responsiveness. Pediatr Res. 2015 Nov; 78(5):505-12. View abstract
  76. Integrated microRNA and mRNA responses to acute human left ventricular ischemia. Physiol Genomics. 2015 Oct; 47(10):455-62. View abstract
  77. Stress and Bronchodilator Response in Children with Asthma. Am J Respir Crit Care Med. 2015 Jul 01; 192(1):47-56. View abstract
  78. CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies. J Allergy Clin Immunol. 2015 Dec; 136(6):1503-1510. View abstract
  79. Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease. Chest. 2015 Jun; 147(6):1549-1557. View abstract
  80. Noninvasive analysis of the sputum transcriptome discriminates clinical phenotypes of asthma. Am J Respir Crit Care Med. 2015 May 15; 191(10):1116-25. View abstract
  81. The metabolomics of asthma control: a promising link between genetics and disease. Immun Inflamm Dis. 2015 Sep; 3(3):224-38. View abstract
  82. Glucocorticoid genes and the developmental origins of asthma susceptibility and treatment response. Am J Respir Cell Mol Biol. 2015 May; 52(5):543-53. View abstract
  83. Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma. Nat Commun. 2015 Jan 16; 6:5965. View abstract
  84. A disease module in the interactome explains disease heterogeneity, drug response and captures novel pathways and genes in asthma. Hum Mol Genet. 2015 Jun 01; 24(11):3005-20. View abstract
  85. Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. J Allergy Clin Immunol. 2015 Jun; 135(6):1502-10. View abstract
  86. Joint GWAS Analysis: Comparing similar GWAS at different genomic resolutions identifies novel pathway associations with six complex diseases. Genom Data. 2014 Dec 01; 2:202-211. View abstract
  87. Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci. Hum Mol Genet. 2015 Feb 15; 24(4):1200-10. View abstract
  88. Circadian rhythm reprogramming during lung inflammation. Nat Commun. 2014 Sep 11; 5:4753. View abstract
  89. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. BMC Med Genomics. 2014 Aug 02; 7:48. View abstract
  90. Analyzing networks of phenotypes in complex diseases: methodology and applications in COPD. BMC Syst Biol. 2014 Jun 25; 8:78. View abstract
  91. Prenatal tobacco smoke exposure is associated with childhood DNA CpG methylation. PLoS One. 2014; 9(6):e99716. View abstract
  92. A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes. J Allergy Clin Immunol. 2014 Nov; 134(5):1153-62. View abstract
  93. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Hum Mol Genet. 2014 Oct 01; 23(19):5251-9. View abstract
  94. Classification of childhood asthma phenotypes and long-term clinical responses to inhaled anti-inflammatory medications. J Allergy Clin Immunol. 2014 May; 133(5):1289-300, 1300.e1-12. View abstract
  95. Pharmacogenomics: novel loci identification via integrating gene differential analysis and eQTL analysis. Hum Mol Genet. 2014 Sep 15; 23(18):5017-24. View abstract
  96. Metabolomic derangements are associated with mortality in critically ill adult patients. PLoS One. 2014; 9(1):e87538. View abstract
  97. Gene expression profiling in asthma. Adv Exp Med Biol. 2014; 795:157-81. View abstract
  98. ß-2 adrenergic receptor gene methylation is associated with decreased asthma severity in inner-city schoolchildren: asthma and rhinitis. Clin Exp Allergy. 2014; 44(5):681-9. View abstract
  99. ITGB5 and AGFG1 variants are associated with severity of airway responsiveness. BMC Med Genet. 2013 Aug 28; 14:86. View abstract
  100. Copy number variation genotyping using family information. BMC Bioinformatics. 2013 May 09; 14:157. View abstract
  101. Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility. Clin Exp Allergy. 2013 Apr; 43(4):455-62. View abstract
  102. Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells. Genomics. 2013 May; 101(5):263-72. View abstract
  103. Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene. PLoS One. 2013; 8(2):e56179. View abstract
  104. HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults. Clin Exp Allergy. 2012 Dec; 42(12):1724-33. View abstract
  105. A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations. J Allergy Clin Immunol. 2013 Apr; 131(4):1176-84. View abstract
  106. Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans. J Allergy Clin Immunol. 2012 Dec; 130(6):1294-301. View abstract
  107. Very important pharmacogene summary for VDR. Pharmacogenet Genomics. 2012 Oct; 22(10):758-63. View abstract
  108. Salt sensitivity of blood pressure is associated with polymorphisms in the sodium-bicarbonate cotransporter. Hypertension. 2012 Nov; 60(5):1359-66. View abstract
  109. Maternal allergen exposure reprograms the developmental lung transcriptome in atopic and normoresponsive rat pups. . 2012 Nov 15; 303(10):L899-911. View abstract
  110. Different polymorphisms of the mineralocorticoid receptor gene are associated with either glucocorticoid or mineralocorticoid levels in hypertension. J Clin Endocrinol Metab. 2012 Sep; 97(9):E1825-9. View abstract
  111. Genome-wide association study of the age of onset of childhood asthma. J Allergy Clin Immunol. 2012 Jul; 130(1):83-90.e4. View abstract
  112. On your marks, get set, go! Am J Respir Crit Care Med. 2012 May 01; 185(9):904-6. View abstract
  113. Lysine-specific demethylase 1: an epigenetic regulator of salt-sensitive hypertension. Am J Hypertens. 2012 Jul; 25(7):812-7. View abstract
  114. A database of annotated promoters of genes associated with common respiratory and related diseases. Am J Respir Cell Mol Biol. 2012 Jul; 47(1):112-9. View abstract
  115. Resequencing candidate genes implicates rare variants in asthma susceptibility. Am J Hum Genet. 2012 Feb 10; 90(2):273-81. View abstract
  116. Gene-by-environment effect of house dust mite on purinergic receptor P2Y12 (P2RY12) and lung function in children with asthma. Clin Exp Allergy. 2012 Feb; 42(2):229-37. View abstract
  117. Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. Hum Mol Genet. 2012 Mar 15; 21(6):1325-35. View abstract
  118. Finding disease variants in Mendelian disorders by using sequence data: methods and applications. Am J Hum Genet. 2011 Dec 09; 89(6):701-12. View abstract
  119. Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet. 2012 Dec; 82(6):546-51. View abstract
  120. Identifying causal rare variants of disease through family-based analysis of Genetics Analysis Workshop 17 data set. BMC Proc. 2011 Nov 29; 5 Suppl 9:S21. View abstract
  121. Replication and meta-analysis of the gene-environment interaction between body mass index and the interleukin-6 promoter polymorphism with higher insulin resistance. Metabolism. 2012 May; 61(5):667-71. View abstract
  122. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet. 2011 Jul 31; 43(9):887-92. View abstract
  123. Quantifying differential gene connectivity between disease states for objective identification of disease-relevant genes. BMC Syst Biol. 2011 May 31; 5:89. View abstract
  124. Variants of the caveolin-1 gene: a translational investigation linking insulin resistance and hypertension. J Clin Endocrinol Metab. 2011 Aug; 96(8):E1288-92. View abstract
  125. Renin gene polymorphism: its relationship to hypertension, renin levels and vascular responses. J Renin Angiotensin Aldosterone Syst. 2011 Dec; 12(4):564-71. View abstract
  126. The CD4+ T-cell transcriptome and serum IgE in asthma: IL17RB and the role of sex. BMC Pulm Med. 2011 Apr 07; 11:17. View abstract
  127. Association of SERPINE2 with asthma. Chest. 2011 Sep; 140(3):667-674. View abstract
  128. Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes. BMC Med Genet. 2011 Feb 15; 12:26. View abstract
  129. The association of the angiotensinogen gene with insulin sensitivity in humans: a tagging single nucleotide polymorphism and haplotype approach. Metabolism. 2011 Aug; 60(8):1150-7. View abstract
  130. The impact of self-identified race on epidemiologic studies of gene expression. Genet Epidemiol. 2011 Feb; 35(2):93-101. View abstract
  131. Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet. 2011 Jan 20; 7(1):e1001279. View abstract
  132. TSLP polymorphisms are associated with asthma in a sex-specific fashion. Allergy. 2010 Dec; 65(12):1566-75. View abstract
  133. Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. Hum Mol Genet. 2010 Dec 01; 19(23):4745-57. View abstract
  134. 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. Genet Epidemiol. 2010 Sep; 34(6):582-90. View abstract
  135. Asthma-susceptibility variants identified using probands in case-control and family-based analyses. BMC Med Genet. 2010 Aug 10; 11:122. View abstract
  136. In utero smoke exposure and impaired response to inhaled corticosteroids in children with asthma. J Allergy Clin Immunol. 2010 Sep; 126(3):491-7. View abstract
  137. The relationship between peroxisome proliferator-activated receptor-gamma and renin: a human genetics study. J Clin Endocrinol Metab. 2010 Sep; 95(9):E75-9. View abstract
  138. Risk factors and predictive clinical scores for asthma exacerbations in childhood. Chest. 2010 Nov; 138(5):1156-65. View abstract
  139. Using canonical correlation analysis to discover genetic regulatory variants. PLoS One. 2010 May 13; 5(5):e10395. View abstract
  140. Pulmonary function and emphysema in Williams-Beuren syndrome. . 2010 Mar; 152A(3):653-6. View abstract
  141. Genetic influences on asthma susceptibility in the developing lung. Am J Respir Cell Mol Biol. 2010 Dec; 43(6):720-30. View abstract
  142. Stronger evidence for replication of NPPA using genome-wide genotyping data. Am J Respir Crit Care Med. 2010 Jan 01; 181(1):96. View abstract
  143. MMP12, lung function, and COPD in high-risk populations. N Engl J Med. 2009 Dec 31; 361(27):2599-608. View abstract
  144. Parsing the effects of individual SNPs in candidate genes with family data. Hum Hered. 2010; 69(2):91-103. View abstract
  145. A role for Wnt signaling genes in the pathogenesis of impaired lung function in asthma. Am J Respir Crit Care Med. 2010 Feb 15; 181(4):328-36. View abstract
  146. A genome-wide association study on African-ancestry populations for asthma. J Allergy Clin Immunol. 2010 Feb; 125(2):336-346.e4. View abstract
  147. The interaction of glutathione S-transferase M1-null variants with tobacco smoke exposure and the development of childhood asthma. Clin Exp Allergy. 2009 Nov; 39(11):1721-9. View abstract
  148. Asthma and genes encoding components of the vitamin D pathway. Respir Res. 2009 Oct 24; 10:98. View abstract
  149. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet. 2009 Sep; 85(3):377-93. View abstract
  150. Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children. PLoS Genet. 2009 Aug; 5(8):e1000623. View abstract
  151. Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma. Respir Res. 2009 Jul 20; 10:67. View abstract
  152. Asthma genetics and genomics 2009. Curr Opin Genet Dev. 2009 Jun; 19(3):279-82. View abstract
  153. A graphical model approach for inferring large-scale networks integrating gene expression and genetic polymorphism. BMC Syst Biol. 2009 May 27; 3:55. View abstract
  154. Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet. 2009 May; 84(5):581-93. View abstract
  155. Data structures and algorithms for analysis of genetics of gene expression with Bioconductor: GGtools 3.x. Bioinformatics. 2009 Jun 01; 25(11):1447-8. View abstract
  156. Assessing the reproducibility of asthma candidate gene associations, using genome-wide data. Am J Respir Crit Care Med. 2009 Jun 15; 179(12):1084-90. View abstract
  157. Impact of population stratification on family-based association tests with longitudinal measurements. Stat Appl Genet Mol Biol. 2009; 8:Article 17. View abstract
  158. Association of VEGF polymorphisms with childhood asthma, lung function and airway responsiveness. Eur Respir J. 2009 Jun; 33(6):1287-94. View abstract
  159. Genetic mapping of pharmacogenetic regulatory variation. Curr Pharm Des. 2009; 15(32):3773-81. View abstract
  160. Folliculin mutations are not associated with severe COPD. BMC Med Genet. 2008 Dec 30; 9:120. View abstract
  161. Variants in TGFB1, dust mite exposure, and disease severity in children with asthma. Am J Respir Crit Care Med. 2009 Mar 01; 179(5):356-62. View abstract
  162. High-resolution melting curve analysis of genomic and whole-genome amplified DNA. Clin Chem. 2008 Dec; 54(12):2055-8. View abstract
  163. Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2009 Jun; 40(6):751-5. View abstract
  164. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics. 2009 Jan; 93(1):22-6. View abstract
  165. On the frequency of copy number variants. Bioinformatics. 2008 Oct 15; 24(20):2350-5. View abstract
  166. Genes to diseases (G2D) computational method to identify asthma candidate genes. PLoS One. 2008 Aug 06; 3(8):e2907. View abstract
  167. Polymorphisms in IL12A and cockroach allergy in children with asthma. Clin Mol Allergy. 2008 Jul 31; 6:6. View abstract
  168. Genomics and genome-wide association studies: an integrative approach to expression QTL mapping. Genomics. 2008 Sep; 92(3):129-33. View abstract
  169. Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations. J Allergy Clin Immunol. 2008 Jul; 122(1):93-8, 98.e1-5. View abstract
  170. On the replication of genetic associations: timing can be everything! Am J Hum Genet. 2008 Apr; 82(4):849-58. View abstract
  171. On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test. Genet Epidemiol. 2008 Apr; 32(3):273-84. View abstract
  172. Sex-stratified linkage analysis identifies a female-specific locus for IgE to cockroach in Costa Ricans. Am J Respir Crit Care Med. 2008 Apr 15; 177(8):830-6. View abstract
  173. Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. J Allergy Clin Immunol. 2007 Dec; 120(6):1332-7. View abstract
  174. Paternal asthma, mold exposure, and increased airway responsiveness among children with asthma in Costa Rica. Chest. 2008 Jan; 133(1):107-14. View abstract
  175. Comprehensive testing of positionally cloned asthma genes in two populations. Am J Respir Crit Care Med. 2007 Nov 01; 176(9):849-57. View abstract
  176. A common mitochondrial haplogroup is associated with elevated total serum IgE levels. J Allergy Clin Immunol. 2007 Aug; 120(2):351-8. View abstract
  177. On dichotomizing phenotypes in family-based association tests: quantitative phenotypes are not always the optimal choice. Genet Epidemiol. 2007 Jul; 31(5):376-82. View abstract
  178. Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood. J Allergy Clin Immunol. 2007 Jul; 120(1):84-90. View abstract
  179. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. PLoS Genet. 2007 Apr 27; 3(4):e61. View abstract
  180. Ala92 type 2 deiodinase allele increases risk for the development of hypertension. Hypertension. 2007 Mar; 49(3):461-6. View abstract
  181. Genetic linkage and association analysis of COPD-related traits on chromosome 8p. COPD. 2006 Dec; 3(4):189-94. View abstract
  182. Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica. Hum Mol Genet. 2007 Feb 01; 16(3):243-53. View abstract
  183. Beta-2 adrenergic receptor diplotype defines a subset of salt-sensitive hypertension. Hypertension. 2006 Nov; 48(5):892-900. View abstract
  184. Genetic determinants of functional impairment in chronic obstructive pulmonary disease. Proc Am Thorac Soc. 2006 Aug; 3(6):476. View abstract
  185. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2006 May 01; 173(9):977-84. View abstract
  186. Family-based association test for time-to-onset data with time-dependent differences between the hazard functions. Genet Epidemiol. 2006 Feb; 30(2):124-32. View abstract
  187. Eotaxin polymorphisms and serum total IgE levels in children with asthma. J Allergy Clin Immunol. 2006 Feb; 117(2):298-305. View abstract
  188. T-bet polymorphisms are associated with asthma and airway hyperresponsiveness. Am J Respir Crit Care Med. 2006 Jan 01; 173(1):64-70. View abstract
  189. A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2005 Oct; 33(4):355-62. View abstract
  190. Genomic screening and replication using the same data set in family-based association testing. Nat Genet. 2005 Jul; 37(7):683-91. View abstract
  191. Paternal history of asthma and airway responsiveness in children with asthma. Am J Respir Crit Care Med. 2005 Sep 01; 172(5):552-8. View abstract
  192. Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol. 2005 Feb; 115(2):252-8. View abstract
  193. TBX21: a functional variant predicts improvement in asthma with the use of inhaled corticosteroids. Proc Natl Acad Sci U S A. 2004 Dec 28; 101(52):18099-104. View abstract
  194. Low-normal gestational age as a predictor of asthma at 6 years of age. Pediatrics. 2004 Sep; 114(3):e327-32. View abstract
  195. The IL12B gene is associated with asthma. Am J Hum Genet. 2004 Oct; 75(4):709-15. View abstract
  196. A family-based association test for repeatedly measured quantitative traits adjusting for unknown environmental and/or polygenic effects. Stat Appl Genet Mol Biol. 2004; 3:Article17. View abstract
  197. Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun. 2004 Aug; 5(5):343-6. View abstract
  198. Association of vitamin D receptor gene polymorphisms with childhood and adult asthma. Am J Respir Crit Care Med. 2004 Nov 15; 170(10):1057-65. View abstract
  199. ADAM33: where are we now? Am J Respir Cell Mol Biol. 2004 Jul; 31(1):1-2. View abstract
  200. Endotoxin exposure and eczema in the first year of life. Pediatrics. 2004 Jul; 114(1):13-8. View abstract
  201. TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples. Am J Respir Crit Care Med. 2004 Sep 15; 170(6):594-600. View abstract
  202. The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet. 2004 Aug 01; 13(15):1649-56. View abstract
  203. ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol. 2004 Jun; 113(6):1071-8. View abstract
  204. Asthma genetics 2003. Hum Mol Genet. 2004 Apr 01; 13 Spec No 1:R83-9. View abstract
  205. IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol. 2004 Feb; 26(2):155-65. View abstract
  206. Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma. Am J Respir Crit Care Med. 2004 Jan 15; 169(2):214-9. View abstract
  207. Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. Hum Mol Genet. 2003 Aug 15; 12(16):1973-9. View abstract
  208. The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul; 22(1):67-73. View abstract
  209. A new powerful non-parametric two-stage approach for testing multiple phenotypes in family-based association studies. Hum Hered. 2003; 56(1-3):10-7. View abstract
  210. 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. Genomics. 2003 Jan; 81(1):85-91. View abstract
  211. Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes. Am J Respir Crit Care Med. 2002 Dec 01; 166(11):1449-56. View abstract
  212. Beta2-adrenergic receptor genetics. Curr Opin Mol Ther. 2001 Dec; 3(6):554-66. View abstract
  213. Motogenic effect of recombinant HGF on airway epithelial cells during the in vitro wound repair of the respiratory epithelium. J Cell Physiol. 2000 Dec; 185(3):447-53. View abstract
  214. Does knowledge guide practice? Another look at the management of non-small-cell lung cancer. J Clin Oncol. 1995 Aug; 13(8):1904-11. View abstract