selected scholarly activity
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academic article
- Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies. Clinical journal of the American Society of Nephrology : CJASN. 16:790-799. 2021
- Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD. Clinical journal of the American Society of Nephrology : CJASN. 16:374-383. 2021
- Preprint Servers in Kidney Disease Research. Clinical journal of the American Society of Nephrology : CJASN. 16:479-486. 2021
- The Impact of COVID-19 on Patients With ADPKD. Canadian Journal of Kidney Health and Disease. 8:205435812110564-205435812110564. 2021
- Quality Appraisal and Assurance Techniques for Free Open Access Medical Education (FOAM) Resources: A Rapid Review. Seminars in Nephrology. 40:309-319. 2020
- Microscopic hematuria. CMAJ. 192:E370-E370. 2020
- Improving Sexual Function in People With Chronic Kidney Disease: A Narrative Review of an Unmet Need in Nephrology Research. Canadian Journal of Kidney Health and Disease. 7:205435812095220-205435812095220. 2020
- Proceedings From a Canadian Nephrology Forum: Nephrology Is Back. Canadian Journal of Kidney Health and Disease. 7:205435812096500-205435812096500. 2020
- Does elevated urinary Dkkopf-3 level predict vulnerability to kidney injury during cardiac surgery?. Annals of Translational Medicine. 7:S296-S296. 2019
- Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation. 34:1453-1460. 2019
- Intrafamilial Variability of ADPKD. Kidney International Reports. 4:995-1003. 2019
- Exome sequencing of Saudi Arabian patients with ADPKD. Renal Failure. 41:842-849. 2019
- Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN). Frontiers in Genetics. 10:1084. 2019
- Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations. BMC Nephrology. 19:88. 2018
- Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. Journal of the American Society of Nephrology : JASN. 29:2593-2600. 2018
- HDL Cholesterol, LDL Cholesterol, and Triglycerides as Risk Factors for CKD: A Mendelian Randomization Study. AMERICAN JOURNAL OF KIDNEY DISEASES. 71:166-172. 2018
- Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in Canada. Canadian Journal of Kidney Health and Disease. 5:205435811878936-205435811878936. 2018
- Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Mining. 10:25. 2017
- New treatment paradigms for ADPKD: moving towards precision medicine. Nature Reviews Nephrology. 13:750-768. 2017
- Autosomal dominant polycystic kidney disease. CMAJ. 189:E1396-E1396. 2017
- Clinical evaluation of a hemochromatosis next-generation sequencing gene panel. European Journal of Haematology. 98:228-234. 2017
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts. Human Genetics. 136:165-178. 2017
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Medicine. 7:90. 2015
- Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration. Journal of Lipid Research. 56:1781-1786. 2015
- A 42-year-old man with elevated ferritin. CMAJ. 187:820-821. 2015
- Mendelian randomization of blood lipids for coronary heart disease. European Heart Journal. 36:539-550. 2015
- Examining the Clinical Use of Hemochromatosis Genetic Testing. Canadian Journal of Gastroenterology and Hepatology. 29:41-45. 2015
- Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. British Medical Journal BMJ (Clinical research ed.). 349:g4164-g4164. 2014
- Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Human Molecular Genetics. 23:2498-2510. 2014
- Positive perception of pharmacogenetic testing for psychotropic medications. Human Psychopharmacology. 29:287-291. 2014
- Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci. American Journal of Human Genetics. 94:349-360. 2014
- Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. American Journal of Human Genetics. 94:198-208. 2014
- Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. American Journal of Human Genetics. 94:312-312. 2014
- Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations. American Journal of Human Genetics. 93:545-554. 2013
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics. 22:3394-3395. 2013
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics. 22:1663-1678. 2013
- Causal Relationship between Adiponectin and Metabolic Traits: A Mendelian Randomization Study in a Multiethnic Population. PLoS ONE. 8:e66808-e66808. 2013
- Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. Human Molecular Genetics. 22:184-201. 2013
- BRCA2 Variants and cardiovascular disease in a multi-ethnic study. BMC Medical Genetics. 13:56. 2012
- Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci. American Journal of Human Genetics. 91:823-838. 2012
- Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics. 90:1116-1117. 2012
- Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. American Journal of Human Genetics. 90:753-753. 2012
- Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. American Journal of Human Genetics. 90:410-425. 2012
- Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia. Circulation: Cardiovascular Genetics. 5:66-72. 2012
- Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations. PLoS ONE. 7:e50198-e50198. 2012
- An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia. Arteriosclerosis, Thrombosis, and Vascular Biology. 31:1916-1926. 2011
- Genetic risk factors for stroke in the genome-wide association era. Expert Opinion on Medical Diagnostics. 5:75-84. 2011
- Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics. 88:6-18. 2011
- Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. American Journal of Human Genetics. 87:757-767. 2010
- Genetic variation in hyaluronan metabolism loci is associated with plasma plasminogen activator inhibitor-1 concentration. Blood. 116:2160-2163. 2010
- Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nature Genetics. 42:684-687. 2010
- Translating genomic analyses into improved management of coronary artery disease. Future Cardiology. 6:507-521. 2010
- Phenomics: expanding the role of clinical evaluation in genomic studies.. Journal of Investigative Medicine. 58:700-706. 2010
- Advances in Genomic Analysis of Stroke. Stroke. 41:825-832. 2010
- Extremes of Unexplained Variation as a Phenotype. Circulation: Cardiovascular Genetics. 3:215-221. 2010
- Comprehensive Analysis of Genomic Variation in the LPA Locus and Its Relationship to Plasma Lipoprotein(a) in South Asians, Chinese, and European Caucasians. Circulation: Cardiovascular Genetics. 3:39-46. 2010
- Multi-Ethnic Genetic Association Study of Carotid Intima-Media Thickness Using a Targeted Cardiovascular SNP Microarray. Stroke. 40:3173-3179. 2009
- Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. Journal of Lipid Research. 50:1487-1496. 2009
- A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems. American Journal of Human Genetics. 84:822-822. 2009
- Determination of lipoprotein(a) kringle repeat number from genomic DNA: copy number variation genotyping using qPCR. Journal of Lipid Research. 50:768-772. 2009
- A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems. American Journal of Human Genetics. 84:134-147. 2009
- Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease. Genome Medicine. 1:28-28. 2009
- Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. Journal of Medical Case Reports. 3:8867-8867. 2009
- Genetic testing for atherosclerosis risk: Inevitability or pipe dream?. Canadian Journal of Cardiology. 24:851-854. 2008
- Association study of brain-derived neurotrophic factor (BDNF) and LIN-7 homolog (LIN-7) genes with adult attention-deficit/hyperactivity disorder. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 147B:945-951. 2008
- Investigation of the dopamine D5 receptor gene (DRD5) in adult attention deficit hyperactivity disorder. Neuroscience Letters. 432:50-53. 2008
- Copy number variation in metabolic phenotypes. Cytogenetic and Genome Research Cytogenetics and Cell Genetics. 123:169-175. 2008
- Association analyses of the DAOA/G30 and d-amino-acid oxidase genes in schizophrenia: Further evidence for a role in schizophrenia. NeuroMolecular Medicine. 9:169-177. 2007
- Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). Clinical Genetics. 71:183-186. 2007
- Brain-derived neurotrophic factor variants are associated with childhood-onset mood disorder: confirmation in a Hungarian sample. Molecular Psychiatry. 10:861-867. 2005
- Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia. International Journal of Neuropsychopharmacology. 8:245-253. 2005
- PedSplit: pedigree management for stratified analysis. Bioinformatics Computer Applications in the Biosciences. 20:2315-2316. 2004
- Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 127B:65-67. 2004
- Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24. Molecular Psychiatry. 8:488-498. 2003
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chapter
- Metabolic Syndrome. 47-63. 2018
- Metabolic Syndrome. 283-299. 2017
- Stroke. 655-665. 2013
- The Metabolic Syndrome. 1006-1016. 2013
- A translational view of the genetics of lipodystrophy and ectopic fat deposition.. Progress in Molecular Biology and Translational Science. 159-196. 2010
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conference paper
- Retrospective Evaluation of Patients Referred for Hemochromatosis Genetic Testing. Blood. 4035-4035. 2014
- Extremes of Atherosclerosis Unexplained by Traditional Risk Factors: An Efficient Approach for Genome-Wide Association Studies of Cardiovascular Disease. Arteriosclerosis, Thrombosis, and Vascular Biology. E184-E184. 2010
- Genetic Variation in Hyaluronan Metabolism Genes (HYAL1, HABP2) Is Associated with Plasma Plasminogen Activator Inhibitor-1 Concentration. Arteriosclerosis, Thrombosis, and Vascular Biology. E220-E220. 2010
- Genome-Wide Association Study of Patients with Severe Hypertriglyceridemia. Arteriosclerosis, Thrombosis, and Vascular Biology. E208-E208. 2010
- ISSUES REGARDING GENETIC TESTING FOR SCHIZOPHRENIA RISK AND FOR ANTIPSYCHOTIC DRUG EFFECTS. Schizophrenia Research. 129-129. 2010
- Replication of Loci Affecting Plasma Lipoproteins and Triglycerides Using a Targeted Cardiovascular SNP Microarray in a Multiethnic Sample. Arteriosclerosis, Thrombosis, and Vascular Biology. E59-E59. 2009
- A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy of childhood. Hormone Research Hormone Research in Paediatrics. 187-187. 2008
- Dr Paul Janssen research award winner presentation: Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia. International Clinical Psychopharmacology. A28-A28. 2007
- "Rapid cycling" mainly determines significant findings between the BDNF gene and bipolar disorder. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 45-46. 2004
- A potential role for brain derived neurotrophic factor (BDNF) in adult ADHD. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 96-97. 2004
- An integrative database for genetic epidemiological studies. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 153-154. 2004
- Association study of the G72 and D-amino-acid oxidase (DAAO) genes in schizophrenia. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 135-135. 2004