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
Publications
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-a biologic therapy. Med. 2025 Feb 25; 100607. View Abstract
Protein biomarkers of interstitial lung abnormalities in relatives of patients with pulmonary fibrosis. Eur Respir J. 2025 Jan 30. View Abstract
Specialized pericyte subtypes in the pulmonary capillaries. EMBO J. 2025 Feb; 44(4):1074-1106. View Abstract
Development, Progression, and Mortality of Suspected Interstitial Lung Disease in COPDGene. Am J Respir Crit Care Med. 2024 Dec 15; 210(12):1453-1460. View Abstract
Smooth muscle Cxcl12 activation is associated with vascular remodeling in flow-induced pulmonary hypertension. bioRxiv. 2024 Sep 10. View Abstract
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nat Commun. 2024 May 24; 15(1):4417. View Abstract
Sleeve Gastrectomy is Associated with Longitudinal Improvements in Lung Function and Patient-Reported Respiratory Outcomes. Obes Surg. 2024 Jul; 34(7):2467-2474. View Abstract
Gasdermin B, an asthma-susceptibility gene, promotes MAVS-TBK1 signalling and airway inflammation. Eur Respir J. 2024 May; 63(5). View Abstract
Biomarker-Based Risk Stratification Tool in Pediatric Acute Respiratory Distress Syndrome: Single-Center, Longitudinal Validation in a 2014-2019 Cohort. Pediatr Crit Care Med. 2024 Jul 01; 25(7):599-608. View Abstract
GSDMB/ORMDL3 Rare/Common Variants Are Associated with Inhaled Corticosteroid Response among Children with Asthma. Genes (Basel). 2024 03 28; 15(4). View Abstract
Pericytes contribute to pulmonary vascular remodeling via HIF2a signaling. EMBO Rep. 2024 Feb; 25(2):616-645. View Abstract
Detecting and dissecting signaling crosstalk via the multilayer network integration of signaling and regulatory interactions. Nucleic Acids Res. 2024 Jan 11; 52(1):e5. View Abstract
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. Nat Commun. 2023 10 04; 14(1):6172. View Abstract
A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities. Am J Respir Crit Care Med. 2023 10 01; 208(7):791-801. View Abstract
Pericytes Contribute to Flow-induced Pulmonary Hypertension. Am J Respir Cell Mol Biol. 2023 06; 68(6):705-708. View Abstract
ACDC: a general approach for detecting phenotype or exposure associated co-expression. Front Med (Lausanne). 2023; 10:1118824. View Abstract
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genom Med. 2023 Mar 06; 8(1):7. View Abstract
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies. Hum Mol Genet. 2023 01 27; 32(4):696-707. View Abstract
Progressive Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis. Am J Respir Crit Care Med. 2023 01 15; 207(2):211-214. View Abstract
Suspected Interstitial Lung Disease in COPDGene Study. Am J Respir Crit Care Med. 2023 01 01; 207(1):60-68. View Abstract
Interstitial lung abnormalities are associated with decreased mean telomere length. Eur Respir J. 2022 08; 60(2). View Abstract
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 10; 24(10):2065-2078. View Abstract
Single Cell Transcriptomic Analysis Reveals Organ Specific Pericyte Markers and Identities. Front Cardiovasc Med. 2022; 9:876591. View Abstract
Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium. Am J Respir Cell Mol Biol. 2022 06; 66(6):661-670. View Abstract
Progenitor potential of lung epithelial organoid cells in a transplantation model. Cell Rep. 2022 04 12; 39(2):110662. View Abstract
Inflammasome activation in neutrophils of patients with severe COVID-19. Blood Adv. 2022 04 12; 6(7):2001-2013. View Abstract
Early Changes in Immune Cell Count, Metabolism, and Function Following Sleeve Gastrectomy: A Prospective Human Study. J Clin Endocrinol Metab. 2022 01 18; 107(2):e619-e630. View Abstract
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genom. 2022 Jan 12; 2(1). View Abstract
Interferon-alpha or -beta facilitates SARS-CoV-2 pulmonary vascular infection by inducing ACE2. Angiogenesis. 2022 05; 25(2):225-240. View Abstract
Regulated on Activation, NormalT cell Expressed and Secreted (RANTES) drives the resolution of allergic asthma. iScience. 2021 Oct 22; 24(10):103163. View Abstract
Interleukin-6 Receptor Antagonists in Critically Ill Patients with Covid-19. Reply. N Engl J Med. 2021 09 16; 385(12):1149. View Abstract
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021 07; 17(7):e1009639. View Abstract
Author Correction: Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome. Nat Commun. 2021 Apr 19; 12(1):2434. 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. Am J Respir Crit Care Med. 2021 02 15; 203(4):401-403. View Abstract
A novel locus for exertional dyspnoea in childhood asthma. Eur Respir J. 2021 02; 57(2). View Abstract
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
Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals. Thorax. 2021 06; 76(6):621-623. View Abstract
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
Early changes in immune cell metabolism and function are a hallmark of sleeve gastrectomy: a prospective human study. medRxiv. 2020 Nov 03. View Abstract
Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum? Clin Med (Lond). 2020 11; 20(6):e264-e266. View Abstract
Role of nuclear factor of activated T cells 2 (NFATc2) in allergic asthma. Immun Inflamm Dis. 2020 12; 8(4):704-712. View Abstract
Network study of nasal transcriptome profiles reveals master regulator genes of asthma. J Allergy Clin Immunol. 2021 03; 147(3):879-893. View Abstract
From 2D to 3D: Promising Advances in Imaging Lung Structure. Front Med (Lausanne). 2020; 7:343. View Abstract
Single-cell RNA-seq reveals ectopic and aberrant lung-resident cell populations in idiopathic pulmonary fibrosis. Sci Adv. 2020 07; 6(28):eaba1983. View Abstract
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
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
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
Pulmonary Eosinophilic Granulomatosis with Polyangiitis Has IgG4 Plasma Cells and Immunoregulatory Features. Am J Pathol. 2020 07; 190(7):1438-1448. View Abstract
Discovering the genes mediating the interactions between chronic respiratory diseases in the human interactome. Nat Commun. 2020 02 10; 11(1):811. View Abstract
Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis. Rheumatol Int. 2020 Aug; 40(8):1301-1307. View Abstract
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
Biobanking and cryopreservation of human lung explants for omic analysis. Eur Respir J. 2020 01; 55(1). View Abstract
An RNA-seq primer for pulmonologists. Eur Respir J. 2020 01; 55(1). View Abstract
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
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
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. Chest. 2019 12; 156(6):1068-1079. View Abstract
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
DNA methylation is associated with inhaled corticosteroid response in persistent childhood asthmatics. Clin Exp Allergy. 2019 09; 49(9):1225-1234. View Abstract
The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 06 01; 199(11):1344-1357. View Abstract
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
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
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
Asthma severity, nature or nurture: genetic determinants. Curr Opin Pediatr. 2019 Mar 20. View Abstract
TFutils: Data structures for transcription factor bioinformatics. F1000Res. 2019; 8:152. View Abstract
Genetic-Epigenetic Interactions in Asthma Revealed by a Genome-Wide Gene-Centric Search. Hum Hered. 2018; 83(3):130-152. View Abstract
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
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
Novel eosinophilic gene expression networks associated with IgE in two distinct asthma populations. Clin Exp Allergy. 2018 12; 48(12):1654-1664. View Abstract
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
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
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
Integrative epigenomic analysis in differentiated human primary bronchial epithelial cells exposed to cigarette smoke. Sci Rep. 2018 08 24; 8(1):12750. View Abstract
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
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
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
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 02 02; 9(1):554. 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. J Allergy Clin Immunol. 2018 06; 141(6):2282-2286.e6. View Abstract
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 01 04; 9(1):67. View Abstract
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
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
The MUC5B promoter polymorphism is associated with specific interstitial lung abnormality subtypes. Eur Respir J. 2017 09; 50(3). View Abstract
Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. View Abstract
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. Am J Med Genet A. 2017 Aug; 173(8):2235-2239. View Abstract
MUC1 inhibition leads to decrease in PD-L1 levels via upregulation of miRNAs. Leukemia. 2017 12; 31(12):2780-2790. View Abstract
A meta-analysis of genome-wide association studies of asthma in Puerto Ricans. Eur Respir J. 2017 05; 49(5). View Abstract
Detecting disease-associated genomic outcomes using constrained mixture of Bayesian hierarchical models for paired data. PLoS One. 2017; 12(3):e0174602. View Abstract
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
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
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
Whole genome prediction and heritability of childhood asthma phenotypes. Immun Inflamm Dis. 2016 12; 4(4):487-496. View Abstract
Gene expression network analyses in response to air pollution exposures in the trucking industry. Environ Health. 2016 11 03; 15(1):101. View Abstract
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
Association of Donor and Recipient Telomere Length with Clinical Outcomes following Lung Transplantation. PLoS One. 2016; 11(9):e0162409. View Abstract
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
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
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
Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma. Ann Am Thorac Soc. 2016 Mar; 13 Suppl 1:S104-5. View Abstract
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
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
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
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
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
Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation. PLoS One. 2015; 10(10):e0140758. View Abstract
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
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
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
Integrated microRNA and mRNA responses to acute human left ventricular ischemia. Physiol Genomics. 2015 Oct; 47(10):455-62. View Abstract
Stress and Bronchodilator Response in Children with Asthma. Am J Respir Crit Care Med. 2015 Jul 01; 192(1):47-56. View Abstract
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
Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease. Chest. 2015 Jun; 147(6):1549-1557. View Abstract
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
The metabolomics of asthma control: a promising link between genetics and disease. Immun Inflamm Dis. 2015 Sep; 3(3):224-38. View Abstract
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
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma. Nat Commun. 2015 Jan 16; 6:5965. View Abstract
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
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
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
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
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
Pharmacogenomics: novel loci identification via integrating gene differential analysis and eQTL analysis. Hum Mol Genet. 2014 Sep 15; 23(18):5017-24. View Abstract
Metabolomic derangements are associated with mortality in critically ill adult patients. PLoS One. 2014; 9(1):e87538. View Abstract
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
Gene expression profiling in asthma. Adv Exp Med Biol. 2014; 795:157-81. View Abstract
ITGB5 and AGFG1 variants are associated with severity of airway responsiveness. BMC Med Genet. 2013 Aug 28; 14:86. View Abstract
Copy number variation genotyping using family information. BMC Bioinformatics. 2013 May 09; 14:157. View Abstract
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
Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells. Genomics. 2013 May; 101(5):263-72. View Abstract
Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene. PLoS One. 2013; 8(2):e56179. View Abstract
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
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
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
Very important pharmacogene summary for VDR. Pharmacogenet Genomics. 2012 Oct; 22(10):758-63. View Abstract
Salt sensitivity of blood pressure is associated with polymorphisms in the sodium-bicarbonate cotransporter. Hypertension. 2012 Nov; 60(5):1359-66. View Abstract
Maternal allergen exposure reprograms the developmental lung transcriptome in atopic and normoresponsive rat pups. Am J Physiol Lung Cell Mol Physiol. 2012 Nov 15; 303(10):L899-911. View Abstract
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
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
On your marks, get set, go! Am J Respir Crit Care Med. 2012 May 01; 185(9):904-6. View Abstract
Lysine-specific demethylase 1: an epigenetic regulator of salt-sensitive hypertension. Am J Hypertens. 2012 Jul; 25(7):812-7. View Abstract
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
Resequencing candidate genes implicates rare variants in asthma susceptibility. Am J Hum Genet. 2012 Feb 10; 90(2):273-81. View Abstract
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
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. Hum Mol Genet. 2012 Mar 15; 21(6):1325-35. View Abstract
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
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
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
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
Quantifying differential gene connectivity between disease states for objective identification of disease-relevant genes. BMC Syst Biol. 2011 May 31; 5:89. View Abstract
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
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
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
Association of SERPINE2 with asthma. Chest. 2011 Sep; 140(3):667-674. View Abstract
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
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
The impact of self-identified race on epidemiologic studies of gene expression. Genet Epidemiol. 2011 Feb; 35(2):93-101. View Abstract
Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet. 2011 Jan 20; 7(1):e1001279. View Abstract
TSLP polymorphisms are associated with asthma in a sex-specific fashion. Allergy. 2010 Dec; 65(12):1566-75. View Abstract
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
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
Asthma-susceptibility variants identified using probands in case-control and family-based analyses. BMC Med Genet. 2010 Aug 10; 11:122. View Abstract
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
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
Risk factors and predictive clinical scores for asthma exacerbations in childhood. Chest. 2010 Nov; 138(5):1156-65. View Abstract
Using canonical correlation analysis to discover genetic regulatory variants. PLoS One. 2010 May 13; 5(5):e10395. View Abstract
Pulmonary function and emphysema in Williams-Beuren syndrome. Am J Med Genet A. 2010 Mar; 152A(3):653-6. View Abstract
Genetic influences on asthma susceptibility in the developing lung. Am J Respir Cell Mol Biol. 2010 Dec; 43(6):720-30. View Abstract
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
MMP12, lung function, and COPD in high-risk populations. N Engl J Med. 2009 Dec 31; 361(27):2599-608. View Abstract
Parsing the effects of individual SNPs in candidate genes with family data. Hum Hered. 2010; 69(2):91-103. View Abstract
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
A genome-wide association study on African-ancestry populations for asthma. J Allergy Clin Immunol. 2010 Feb; 125(2):336-346.e4. View Abstract
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
Asthma and genes encoding components of the vitamin D pathway. Respir Res. 2009 Oct 24; 10:98. View Abstract
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
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
Importin-13 genetic variation is associated with improved airway responsiveness in childhood asthma. Respir Res. 2009 Jul 20; 10:67. View Abstract
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
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet. 2009 May; 84(5):581-93. View Abstract
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
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
Impact of population stratification on family-based association tests with longitudinal measurements. Stat Appl Genet Mol Biol. 2009; 8:Article 17. View Abstract
Association of VEGF polymorphisms with childhood asthma, lung function and airway responsiveness. Eur Respir J. 2009 Jun; 33(6):1287-94. View Abstract
Folliculin mutations are not associated with severe COPD. BMC Med Genet. 2008 Dec 30; 9:120. View Abstract
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
High-resolution melting curve analysis of genomic and whole-genome amplified DNA. Clin Chem. 2008 Dec; 54(12):2055-8. View Abstract
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
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics. 2009 Jan; 93(1):22-6. View Abstract
On the frequency of copy number variants. Bioinformatics. 2008 Oct 15; 24(20):2350-5. View Abstract
Genes to diseases (G2D) computational method to identify asthma candidate genes. PLoS One. 2008 Aug 06; 3(8):e2907. View Abstract
Polymorphisms in IL12A and cockroach allergy in children with asthma. Clin Mol Allergy. 2008 Jul 31; 6:6. View Abstract
Genomics and genome-wide association studies: an integrative approach to expression QTL mapping. Genomics. 2008 Sep; 92(3):129-33. View Abstract
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
On the replication of genetic associations: timing can be everything! Am J Hum Genet. 2008 Apr; 82(4):849-58. View Abstract
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
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
Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. J Allergy Clin Immunol. 2007 Dec; 120(6):1332-7. View Abstract
Paternal asthma, mold exposure, and increased airway responsiveness among children with asthma in Costa Rica. Chest. 2008 Jan; 133(1):107-14. View Abstract
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
A common mitochondrial haplogroup is associated with elevated total serum IgE levels. J Allergy Clin Immunol. 2007 Aug; 120(2):351-8. View Abstract
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
Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood. J Allergy Clin Immunol. 2007 Jul; 120(1):84-90. View Abstract
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
Ala92 type 2 deiodinase allele increases risk for the development of hypertension. Hypertension. 2007 Mar; 49(3):461-6. View Abstract
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
Genetic linkage and association analysis of COPD-related traits on chromosome 8p. COPD. 2006 Dec; 3(4):189-94. View Abstract
Beta-2 adrenergic receptor diplotype defines a subset of salt-sensitive hypertension. Hypertension. 2006 Nov; 48(5):892-900. View Abstract
Genetic determinants of functional impairment in chronic obstructive pulmonary disease. Proc Am Thorac Soc. 2006 Aug; 3(6):476. View Abstract
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
Eotaxin polymorphisms and serum total IgE levels in children with asthma. J Allergy Clin Immunol. 2006 Feb; 117(2):298-305. View Abstract
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
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
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
Genomic screening and replication using the same data set in family-based association testing. Nat Genet. 2005 Jul; 37(7):683-91. View Abstract
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
Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol. 2005 Feb; 115(2):252-8. View Abstract
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
Low-normal gestational age as a predictor of asthma at 6 years of age. Pediatrics. 2004 Sep; 114(3):e327-32. View Abstract
The IL12B gene is associated with asthma. Am J Hum Genet. 2004 Oct; 75(4):709-15. View Abstract
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
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
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
ADAM33: where are we now? Am J Respir Cell Mol Biol. 2004 Jul; 31(1):1-2. View Abstract
Endotoxin exposure and eczema in the first year of life. Pediatrics. 2004 Jul; 114(1):13-8. View Abstract
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
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
ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol. 2004 Jun; 113(6):1071-8. View Abstract
IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol. 2004 Feb; 26(2):155-65. View Abstract
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
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
The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat. 2003 Jul; 22(1):67-73. View Abstract
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
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
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
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
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