selected scholarly activity
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chapters
- TRPV1 Genetics. 134-149. 2010
- The Role of TRPV1 in Diabetes. 423-448. 2010
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conferences
- DEFINING CF BASED ON GENOTYPE: A WORLDWIDE PERSPECTIVE. Pediatric Pulmonology. 211-211. 2012
- MECONIUM ILEUS PREVALENCE SCORE AS NEW PHENOTYPIC MARKER FOR THE SEVERITY OF CFTR MUTATIONS. Pediatric Pulmonology. 386-386. 2012
- SPINK1 MUTATION N34S INCREASES RISK OF PANCREATITIS IN PATIENTS WITH CF AND CFTR-RELATED DISORDERS. Pediatric Pulmonology. 390-390. 2011
- ASSESSING DISEASE LIABILITY OF MISSENSE CFTR MUTATIONS USING DIFFERING PERCENTAGES OF WILD-TYPE FUNCTION. Pediatric Pulmonology. 283-283. 2010
- CONSTITUENTS OF THE APICAL PLASMA MEMBRANE MAY CONTRIBUTE TO MECONIUM ILEUS. Pediatric Pulmonology. 284-284. 2010
- HIGH PREVALENCE OF CYSTIC FIBROSIS IN PATIENTS WITH IDIOPATHIC CHRONIC SINOPULMONARY DISEASE. Pediatric Pulmonology. 378-378. 2010
- TOLL-LIKE RECEPTOR 5 AS AN ANTI-INFLAMMATORY TARGET AND MODIFIER GENE IN CYSTIC FIBROSIS. Pediatric Pulmonology. 285-285. 2010
- INCREASED RISK OF PANCREATITIS ASSOCIATED WITH MILD CFTR MUTATIONS. Pediatric Pulmonology. 403-404. 2009
- Survival adjusted lung function severity score in Cystic Fibrosis modifier gene studies. Genetic Epidemiology. 716-716. 2008
- Age specific effect of TGF beta 1 variants on pulmonary function in cystic fibrosis patients. Genetic Epidemiology. 631-631. 2007
- The effect of MBL2 gene variants on the age of first infection in Cystic Fibrosis (CF) patients is modified by TGF beta 1 gene variants. Genetic Epidemiology. 646-646. 2007
- A 6 megabase region on the long arm of chromosome 5 displays linkage to cross-sectional and longitudinal measures of cystic fibrosis lung disease severity. Pediatric Pulmonology. 265-265. 2007
- Genetic modifiers of severe liver disease in cystic fibrosis: A replication study. Pediatric Pulmonology. 381-381. 2007
- Phenotype Definition for the Analysis of Modifier Genes in Cystic Fibrosis. American Journal of Epidemiology. S128-S128. 2006
- Anticoagulant modulation of proinflammatory mediators involved in LPS-induced preterm delivery.. Reproductive Sciences. 138A-138A. 2006
- Effect of functional Heparin-PF4 antibodies from patients with heparin-induced thrombocytopenia on blood coagulation assessed by thrombelastography.. Blood. 115B-115B. 2003
- Functional heparin-PF4 antibodies from patients with heparin-induced thrombocytopenia (HIT) cause platelet-monocyte aggregation: Implications for the pathogenesis of HIT.. Blood. 536A-536A. 2003
- Reducing postoperative agitation in pediatric patients: Oral transmucosal fentanyl citrate with without ondansetron. Anesthesia and Analgesia. 1999
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journal articles
- Encountering Pharmacogenetic Test Results in the Psychiatric Clinic. Canadian Journal of Psychiatry. 67:95-100. 2022
- Individualized Medication Management in Ontario Long-Term Care Clinical Impact on Management of Depression, Pain, and Dementia. Journal of the American Medical Directors Association. 21:823-829.e5. 2020
- User considerations in assessing pharmacogenomic tests and their clinical support tools. npj Genomic Medicine. 3:26. 2018
- Disease Risk Assessment Using a Voronoi-Based Network Analysis of Genes and Variants Scores. Frontiers in Genetics. 8:29. 2017
- Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Genetics in Medicine. 18:333-340. 2016
- Proposed Regulatory Framework for Direct-to-Consumer Genetic Testing: Diagnostics vs Genetic Screening. Clinical Chemistry. 60:1455-1456. 2014
- Does Integration of Various Ion Channel Measurements Improve Diagnostic Performance in Cystic Fibrosis?. Annals of the American Thoracic Society. 11:562-570. 2014
- Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?. Thorax. 69:254-260. 2014
- Genetic Dissection of Photoreceptor Subtype Specification by the Drosophila melanogaster Zinc Finger Proteins Elbow and No ocelli. PLoS Genetics. 10:e1004210-e1004210. 2014
- Application of personalized medicine to chronic disease: a feasibility assessment. Clinical and Translational Medicine. 2:16. 2013
- Reply to Just the facts, please. Nature Biotechnology. 31:1076-1077. 2013
- Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics. 45:1160-1167. 2013
- Falling prices and unfair competition in consumer genomics. Nature Biotechnology. 31:785-786. 2013
- Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nature Genetics. 45:670-675. 2013
- CFTR2: How will it help care?. Paediatric Respiratory Reviews. 14:2-5. 2013
- The Cystic Fibrosis Gene: A Molecular Genetic Perspective. Cold Spring Harbor Perspectives in Medicine. 3:a009472-a009472. 2013
- The cystic fibrosis gene: A molecular genetic perspective. Cold Spring Harbor Perspectives in Biology. 5. 2013
- Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease. Chest. 142:996-1004. 2012
- Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?. Thorax. 67:618-624. 2012
- Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nature Genetics. 44:562-569. 2012
- Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity. Nature Medicine. 18:595-599. 2012
- Modifier Gene Studies to Identify New Therapeutic Targets in Cystic Fibrosis. Current Pharmaceutical Design. 18:674-682. 2012
- ‘Sensing’ the link between type 1 and type 2 diabetes. Diabetes/Metabolism Research and Reviews. 27:913-918. 2011
- A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies. Pediatric Pulmonology. 46:857-869. 2011
- Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection. Genes and Immunity. 12:370-377. 2011
- Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nature Genetics. 43:539-546. 2011
- Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis. Pediatric Pulmonology. 46:385-392. 2011
- Understanding the population structure of North American patients with cystic fibrosis. Clinical Genetics. 79:136-146. 2011
- Evaluation of the Disease Liability of CFTR Variants. Methods in molecular biology (Clifton, N.J.). 742:355-372. 2011
- Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis. Gastroenterology. 140:153-161. 2011
- TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis. Journal of Immunology. 185:7731-7738. 2010
- Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2. Genome Research. 20:1180-1190. 2010
- Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?. Clinical Genetics. 77:464-473. 2010
- Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. Human Genetics. 126:763-778. 2009
- Genetic Modifiers of Liver Disease in Cystic Fibrosis. Journal of the American Medical Association (JAMA). 302:1076-1076. 2009
- Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). European Journal of Human Genetics. 17:1171-1181. 2009
- Normalization of obesity-associated insulin resistance through immunotherapy. Nature Medicine. 15:921-929. 2009
- Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening (vol 10, pg 201, 2008). Genetics in Medicine. 11:78-78. 2009
- Erratum. Genetics in Medicine. 11:78-78. 2009
- Complex two-gene modulation of lung disease severity in children with cystic fibrosis. Journal of Clinical Investigation. 118:1040-1049. 2008
- Complex two-gene modulation of lung disease severity in children with cystic fibrosis. Journal of Clinical Investigation. 118:1040-1049. 2008
- Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening. Genetics in Medicine. 10:201-206. 2008
- Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening. Genetics in Medicine. 10:201-206. 2008
- Genetic Modifiers of Lung Disease in Cystic Fibrosis. New England Journal of Medicine. 353:1443-1453. 2005
- Proximodistal subdivision ofDrosophilalegs and wings: theelbow-no ocelligene complex. Development. 131:767-774. 2004
- Identifying genetic and environmental risk factors for chronic orofacial pain syndromes: human models.. Journal of Oral and Facial Pain and Headache. 18:311-317. 2004
- Stripe Provides Cues Synergizing with Branchless to Direct Tracheal Cell Migration. Developmental Biology. 252:119-126. 2002
- Robustness of the BMP morphogen gradient in Drosophila embryonic patterning. Nature. 419:304-308. 2002
- Elbow and Noc define a family of zinc finger proteins controlling morphogenesis of specific tracheal branches. Development. 129:3585-3596. 2002
- Biphasic activation of the BMP pathway patterns the Drosophila embryonic dorsal region. Development. 128:965-972. 2001